Familial Cancer (2013) 12:S1–S22 DOI 10.1007/s10689-013-9605-3
ABSTRACTS
13th International Meeting on Psychosocial Aspects of Hereditary Cancer (IMPAHC) 7–8 March 2013, Sydney, Australia
Springer Science+Business Media Dordrecht 2013
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Word of Welcome Dear IMPAHC participant, On behalf of the organising committee, I would like to welcome you to Sydney. We are delighted to host the 13th International Meeting of Psychosocial Aspects of Hereditary Cancer (IMPAHC). The conference will be of interest to genetic health professionals, social workers, psychologists and medical specialists and provide an opportunity to meet and network with clinicians and researchers from around the world with shared research interests in the rapidly growing field of the psychosocial implications of cancer genetics. Excellent keynote speakers will speak about their areas of expertise, including the psychosocial implications of genomic testing, prevention and treatment of hereditary cancers, implications of Australian life insurance and genetic testing policies for hereditary cancer and research, and psychosocial aspects of hereditary melanoma. In addition, several invited presenters will deliver workshops on psycho-educational interventions in the hereditary cancer setting. Finally researchers and clinicians from around the world will deliver oral and poster presentations on decision-making about genetic testing, psychosocial aspects of rapid genetic testing and genomic testing, communication of genetic risk information, novel genetic counselling interventions, and psychosocial impact of risk-reducing surgery, amongst other topics. We are looking forward to meeting you in Sydney!
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Abstract On behalf of the Organising Committee
Bettina Meiser Chair, Organising Committee IMPAHC 2013
Social Events The Welcome Reception will be held at the ECQ Bar, overlooking Sydney Harbour. It will provide the opportunity to meet up with old friends and colleagues in a relaxed atmosphere. The conference dinner on Friday night will be held at the Deck restaurant at Luna Park, which is an elegant harbour side restaurant that embraces uninterrupted views of Sydney’s most iconic landmarks spanning from the Opera House, Harbour Bridge, Botanical Gardens and Finger Wharf. Ferries regularly service to Milsons Point (Luna Park) from Circular Quay and Darling Harbour. Please check at the registration desk if tickets are still available. If you plan to stay for the weekend, you should explore the historic Rocks, hit the world famous harbour, visit Manly on the ferry and walk from Bondi to Coogee beach. However, do not go sightseeing during the conference, because the program is very exciting!
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Program Timing 18.00–20.00 Timing 8.00–8.30 8.30–8.45
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9.30–10.15
10.15–10.45
10.45–11.15 11.15–11.45
11:45–12:15
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13.00–14.00 14.00–15.30
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15.30–16.00 16.00–17.00
Wednesday, 6 March Pre-conference ECG Bar, Circular Quay Thursday, 7 March Registration & Coffee Welcome and Chair: A/Prof Bettina Meiser Theme: Genomic testing in the context of cancer genetics—Chair: Kristine Barlow-Stewart Dr. Paul James Genomic Technologies and their impact on Cancer Genetics Dr. Colleen McBride Psychosocial implications of genomic testing in the context of cancer genetics TBC Professor Gareth Evans Impact of single nucleotide polymorphism (SNPs) testing in BRCA2 and in the general population COFFEE BREAK Chair: A/Prof Judy Kirk Dr. Jemma Gilchrist A clinical psychologist’s role in managing patients from hereditary cancer families A/Professor Kristine Barlow-Stewart Life insurance and genetic testing policies 2013: implications for hereditary cancer and research Theme: Rapid genetic testing Evaluation of the efficacy of two models of delivering information about treatment-focused genetic testing among young women newly diagnosed with breast cancer B. Meiser (01) Rapid genetic counselling and testing offered right after breast cancer diagnosis: First data on professional psychosocial care D. Hahn (02) The experience of Treatment Focused Genetic Testing (TFGT) on genetic counselling practice in a major cancer hospital L. Cicciarelli (03) LUNCH & Poster viewing PARALLEL WORKSHOPS (1) Dr Kerry Sherman Psycho-educational interventions for women at high risk for breast/ovarian cancer (2) Professor Mary-Jane Esplen Planning Psychosocial Care: What are the relevant areas of assessment? Using a Risk Factor Tool to guide and plan personalized psychosocial interventions (3) Vincent Fogliati Mindfulness based interventions Discussion Chair: Dr Elvira Zilliacus TEA BREAK Theme: Psycho-social implications of risk-reducing surgery Chair: Prof Mary Jane Esplen Underestimated intimate issues after bilateral prophylactic mastectomy and immediate breast reconstruction in healthy mutation carriers A. Tibben (04) Experiences of CHD1 carriers with prophylactic gastrectomy: The need for multi-disciplinary care E. Bleiker (05)
19.30–21.30 Timing 8.00–8.30 8.30–10.00 8.30–9.15 9:15–10:00 10:00–10:30
10.30–11.00 11.00–13.00
13.00–14.00 13.00–15:15
Involvement of unaffected BRCA1/2 carriers in prophylactic surgery decision-making and related factors J. Mancini (06) Changes in unaffected female BRCA1/2 mutation carriers’ body image: what is the impact of prophylactic surgery (mastectomy and salpingo-oophorectomy) J. Mancini (07) Conference Dinner at Luna Park Friday, 8 March Registration & Coffee Theme: Hereditary melanoma Chair: June Peters Professor Graham Mann Genetic aspects of hereditary melanoma Dr Nadine Kasparian Psychosocial aspects of hereditary melanoma Theme: Genomic testing Chair: Dr Eveline Bleiker Attitudes and Information Needs regarding Next Generation Genetic Testing through a Hereditary Cancer Clinic L. Andrews (08) Men’s interpretations of undergoing genetic profiling to determine future risk of prostate cancer A. Ardern-Jones (09) COFFEE BREAK Theme: Novel genetic counselling intervention Chairs: Prof Aad Tibben and Margaret Gleeson Development of genetic counselling skills and strategies through a peer observation and feedback model A. Sexton (10) Family matters: Additional telephonic counselling to support counsellees in disclosing hereditary cancer information to at-risk relatives: A pilot study E. de Geus (11) Developing a youth friendly model of genetic counselling L. Holland (12) Participation in a telephone based peer support program for BRCA1/2 mutation carriers V. White (13) The Signal Trial: Screening for psychosocial problems in cancer genetic counselling E. Bleiker (14) Li-Fraumeni Syndrome: Case Study in a New Clinical Epidemiology Cohort J. Peters (15) Communication about oncogenetic information: do gastroenterologists and surgeons discuss heredity with their patients and, if so, what and how? K. Douma (16) A study on the impact of pre-test genetic counselling and genetic testing towards the psychological distress and cancer worry in unaffected relatives S. Yoon (17) LUNCH & Poster viewing & Meeting of Scientific Committee Theme: Decision-making about and impact of genetic testing Chair: Dr Andrea Patenaude Factors which influence participants to follow up genetic test results as a result of taking part in a population based ovarian cancer research study? M.-A. Young (18)
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Abstract Why some individuals in mutation carrying families choose not to undergo predictive testing: a qualitative investigation L. Keogh (19) Next Generation Education: Daughters of BRCA1/2 Mutation Carriers Report Preferences for Receipt of Genetic Information and Support A. Patenaude (20) Identifying cognitive and affective profiles of women undergoing BRCA1/2 genetic testing using cluster analytic techniques K. Sherman (21) 5-year parenthood rates after BRCA1/2 genetic testing in the GENEPSO-Psy cohort J. Mancini (22) TEA BREAK Theme: Prevention and treatment of hereditary cancers Chair: Dr Kathy Tucker
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15.45–16.15
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16:45– 17:00
Dr. Gillian Mitchell Risk-reducing surgery and medical prevention strategies in breast, ovarian, colorectal and endometrial cancers Professor Gareth Evans Novel targeted treatments for neurofibromatosis 2 (NF2) and Von Hippel Lindau Disease (VHL) CLOSING Ceremony & Presentations of Research Award and Poster Award & Announcement of IMPAHC 2015 Location—A/Prof Bettina Meiser
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Members of the Organising Committee Assoc Prof Bettina Meiser Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales, Randwick, NSW, Australia Dr Kathy Tucker Prince of Wales Hereditary Cancer Clinic, Randwick, NSW, Australia Assoc Prof Judy Kirk Familial Cancer Service, Westmead Hospital, Westmead, NSW, Australia Dr Gillian Mitchell Peter MacCallum Cancer Centre, Melbourne, VIC, Australia Margaret Gleeson Hunter Family Cancer Service, Hunter Genetics, Newcastle, Australia Mary-Anne Young Peter MacCallum Cancer Centre, Melbourne, VIC, Australia Assoc Prof Kris Barlow-Stewart Centre for Genetics Education, Royal North Shore Hospital, St Leonards, NSW, Australia Dr Melanie Price Centre for Medical Psychology & Evidence-based Decision-making Dr Elvira Zilliacus Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales, Randwick NSW
S5 Prof Rosalind Eeles Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, UK Dr Mary-Jane Esplen de Souza Institute, University Health Network, Toronto, Ontario, Canada Prof Gareth Evans Manchester Academic Health Science Centre, University of Manchester, Manchester, UK Dr Claire Julian-Reynier INSERM, University Aix-Marseille, Marseille, France Dr Kathryn Kash Health Policy, Psychiatry & Human Behaviour, Thomas Jefferson University, Philadelphia, USA Assoc Prof Bettina Meiser Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales, Randwick, NSW, Australia Dr Francisco Luis Gil Moncayo Catalan Institute of Oncology, Barcelona, Spain Dr Andrea Patenaude Dana-Farber Cancer Institute, Boston, Massachusetts, USA June Peters Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute, Bethesda, Maryland, USA Prof Aad Tibben Leiden University Medical Centre, Leiden, Netherlands
Members of the Scientific Committee Dr Eveline Bleiker Psychosocial Research and Epidemiology, Netherlands Cancer Institute, Amsterdam, Netherlands
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Sponsors
National Breast Cancer Foundation
Cancer Institute NSW
BioMed Central
Hereditary Cancer
The University of New South Wales
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Abstract The recipients of the 2013 IMPAHC Scholarships are:
Scholarships • IMPAHC Scholarships have been established to assist psychooncology professionals from emerging and developing countries to attend the Meeting so that they may explore the latest research and advances in clinical practice. It also offers successful applicants the opportunity to network and collaborate with other colleagues from around the world. Preference is given to applicants from low to middle income countries and/or those who demonstrate a need for financial support.
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Dr Vijay Prasad, Department of Clinical Psychology, Dimhans, India Kate Mahendran, kConfab, Westmead, Australia Sook Yee Yoon, Cancer Research Initiatives Foundation, Selangor, Malaysia
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Invited Speakers Dr Colleen McBride
Dr McBride is the Head of the Public Health Genomics Section, National Human Genome Research Institute. Her research focuses on developing innovative public health interventions to promote riskreducing behaviours. Building on her behavioural epidemiology and genetics experience, she is investigating how genetic information can best be used to motivate people to behave in more healthful ways. In 2005, Dr McBride and colleagues launched the Multiplex Initiative, a large pilot study to explore healthy young adults’ interest in ‘multiplex testing’. In two other studies, Dr McBride is evaluating the potential of genetic risk information to motivate parents to positively influence their children’s health behaviours. Dr McBride is also evaluating public health models for using genetic information to categorize populations according to risk.
S9 which is nationally regarded. He is an important opinion leader nationally through membership of committees and was chairman of the NICE Familial Breast Cancer Guideline Development Group (2002–2010) and is now clinical lead (2011–). He lectures throughout the UK and internationally on hereditary breast cancer and cancer syndromes. He has given plenary lectures at many international meetings including the International Congress of Human Genetics and two invited lecture tours across Australia (1995, 2001). He has developed a national training program for clinicians, nurses and genetic counsellors in breast cancer genetics and established a system for risk assessment and counselling for breast cancer in Calman breast units implemented through a training course (1998–2011). He has published 470 peer reviewed research publications; 180 as first or senior author. He has published over 75 reviews and chapters and has had a book published by Oxford University Press on familial cancer. He has an ISI web of knowledge H-index of 67 having only published his first article in 1990. In the last 5 years he has raised over £10 million in grants for multicentre and local studies—approximately £5 million to Manchester. He is Chief Investigator on a £1.59 million NIHR program grant (2009–2014) on breast cancer risk prediction and also has an NIHR RfPB grant as CI (2011). He has lead a successful bid for a Nationally funded NF2 service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service.
A/Professor Kristine Barlow-Stewart
Prof Gareth Evans
Professor Evans has established a national and international reputation in clinical and research aspects of cancer genetics, particularly in neurofibromatosis and breast cancer. He has developed a clinical service for cancer genetics in the North West Region of England,
Associate Professor Kristine Barlow-Stewart, BSc (U.Syd), Ph.D. (U.NSW), Genetic Counsellor (FHGSA), is the Foundation Director of NSW Health’s Centre for Genetics Education based at Royal North Shore Hospital and is also a Clinical Associate Professor with Sydney University’s Medical School and Director of the Master Degree in Genetic Counselling program. Her career has focussed on addressing the information and support needs of the community, education and training needs of professionals and the impact of the rapidly developing field of genetic technology. She is an invited speaker nationally and internationally on the impact of genetics technologies in many disciplines including education, law, business and the humanities. Kristine has contributed widely to development of policies in this area and was the first in Australia to be certified as a genetic counsellor by the Human Genetics Society of Australasia in 1991.
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Vincent Fogliati
Abstract Melbourne. Jemma is employed at the Crown Princess Mary Cancer Centre Westmead and has private practices at Norwest and Macquarie University Hospitals
Dr Paul James
Vincent Fogliati holds an Honours degree in Psychology from Macquarie University. He is currently completing a combined Ph.D./ Masters degree in Clinical Psychology at Macquarie University. He has experience working with children, adolescents and adults, individually and in groups. He specialises in the clinical assessment and treatment of anxiety, depression and self-esteem issues. Vincent also has considerable experience working with children and adults who have experienced trauma. He has also facilitated group treatment for children and adolescents with anxiety, older adults with depression and anxiety, and individuals living with cancer. Vincent has conducted research on anxiety’s effect on performance, and has been involved in research projects that examined the effects of bullying on psychological outcomes and the effect of cognitive-behavioural treatments on anxiety and depression. Vincent has experience in the use of a range of therapy approaches, including cognitive Behaviour Therapy, Schema Therapy, mindfulness-based approaches, Narrative Therapy and Systems Therapy. Vincent is also a trained Mindfulness-based Cognitive Therapy facilitator.
Paul is the head of the Genetic Health Unit at Monash Medical Centre, a consultant geneticist at the Peter MacCallum Cancer Centre’s Familial Cancer Centre and at the Murdoch Children’s Research Institute. He is a past recipient of the Nuffield Scholarship and completed a doctorate in neurogenetics at St John’s College in Oxford, working at the newly formed Oxford Centre for Gene Function. He returned to Melbourne in 2007 and as well as his clinical role, has developed research programs in cardiac genetics and familial cancer that focus on translating molecular advances into clinical practice—this includes a role as Chief Investigator for the NHMRC funded ‘Breast Cancer: Variants in Practice Study’. He is an adjunct Clinical Associate Professor in the Department of Medicine at Monash University.
Dr Nadine Kasparian Dr Jemma Gilchrist
Dr. Jemma Gilchrist is a senior clinical psychologist who specialises in the psychological care of individuals and families coping with cancer. Jemma completed her Ph.D. in 1995 and has worked in cancer services since 1999. She has experience in educating other health professionals on psychological needs and interventions in cancer care and is actively involved in research to develop new ways of treating common fears and concerns. Jemma has co-edited a book for health professionals; Hodgkinson, K and Gilchrist J 2008 (Eds.), Psycho-social Care of Cancer Patients: A Health Professional’s Guide to What to Say and Do, Ausmed Publications.
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Dr Nadine Kasparian is Head of Psychological Research and Supportive Care at the Heart Centre for Children, The Children’s Hospital at Westmead. She is also a Clinical Research Fellow in Medicine at the University of NSW and Conjoint Senior Lecturer in Paediatrics and Child Health at the University of Sydney. Over the past 10 years, Nadine’s research has focused on better understanding and addressing the emotional needs of children and adults affected by medical illness. She has worked closely with people affected by melanoma, breast cancer, and ovarian cancer, with a particular focus on better understanding the experiences of families undergoing genetic testing for cancer risk.
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Professor Graham Mann
S11 people at high familial risk of developing cancer, with a particular focus on women with breast and ovarian cancer who are using the family risk information to help them choose the most appropriate cancer prevention, screening and treatment. This complements her breast cancer clinical oncology role. Dr Mitchell’s primary research focus is to find better ways of identifying people at familial risk of cancer and to target cancer prevention, screening and cancer treatments more effectively using the genetic information.
Dr Kerry Sherman
Graham Mann is a Professor in Medicine at the University of Sydney a the Westmead Millennium Institute, Australia. He helps lead a multidisciplinary melanoma research program funded by the National Health and Medical Research Council and Cancer Institute NSW. These programs are engaged in all aspects of melanoma control, from populationbased studies of genetic and environmental susceptibility to melanoma, and psychosocial aspects of melanoma risk, to molecular markers of diagnosis, prognosis and response to treatment. Recent successes have included the discovery of novel genetic risk factors in the Australian population, and of novel biomarkers of prognosis in melanoma. He is the founding member and principal investigator of the International Melanoma Genetics Consortium (GenoMEL). Graham’s research interests are about the genetic and environmental causes of melanoma, breast cancer, non-melanoma skin cancer, and prostate cancer.
Dr Gillian Mitchell
Dr Sherman’s research interests broadly encompass a social-cognitive view of coping with illness and threat of illness. Specifically, her research interests lie primarily within psycho-oncology, which looks at the role of psychosocial factors in cancer, particularly breast cancer and psychosocial factors associated with at-risk and affected populations for this disease. She has also been involved with research on at-risk populations for prostate cancer and colorectal cancer.
Dr Gillian Mitchell is the Director of the Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne and has both clinical and research commitments. In her clinical role in familial cancer Dr Mitchell’s focus is on identification and cancer risk management of
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Abstracts of Invited Speakers
Genomic technologies and their impact on cancer genetics Dr Paul James The last 5 years have seen a rapid transformation in the technologies underpinning our understanding of genetics in both research and clinical practice. The combination of advanced computing power, miniaturisation, and massively parallel approaches has heralded a period of change in the biological sciences that bears comparison to the impact of the personal computer. Cancer genetics has been at the forefront of these developments and this talk will consider two technologies in particular that are contributing to a new understanding of the genetic causes of cancer predisposition—Genome-wide Association Studies (GWAS) and Exome/Genome sequencing. GWAS typically employ microarray platforms to genotype large cohorts of cases and controls for extended panels of single nucleotide polymorphisms (SNPs). They have been used to describe thousands of the common variants in the genome that affect the incidence and some of the clinical features of cancer in the population. For some common solid tumours, such as breast and prostate cancer, the collective contribution of described SNP associations now represent a significant element that needs to be considered when trying to understand an individual’s cancer risk. For many other cancers, however, clinical applications arising from GWAS remain a distant prospect. At the opposite end of the spectrum deep sequencing based on massively parallel techniques search an individuals whole exome or genome for genetic variants that are rare or unique in the population but which potentially convey a high risk for those few carriers. This has led to the rapid description of large numbers of new disease genes, very few of which have accounted for as much as 1 % of the familial cases of the cancer involved. For both GWAS and MPS the challenges that face both clinicians and patients in the process of trying to translate these novel research outputs into clinical practice remain extensive. Psychosocial implications of genomic testing in the context of cancer genetics Dr Colleen McBride TBA.
Abstract for the 18 (validated for breast cancer), 3 (BRCA1 associated) and 9 (BRCA2 associated) SNPs was 0.54, 0.51 and 0.48, respectively. BRCA2 carriers had significant association between overall breast cancer risk and age at cancer development, but the Harrell’s C statistic (0.59) suggested only modest predictive ability. The 18 validated breast cancer SNPs differentiate breast cancer risks between women with BRCA2 mutations, but not BRCA1. In a general population study of 50,000 women we have so far obtained DNA from over 5,000. SNP testing has now been carried out on these samples with Relative risks varying from 0.19 to 7.3 and a median of 0.92. We are currently validating these results in the first screening round. It may now be appropriate to use these SNPs to help women with BRCA2 mutations make maximally informed decisions about management options.
Novel targeted treatments for neurofibromatosis 2 (NF@) and Von Hippel Lindau Disease (VHL) Prof Gareth Evans TBA.
A clinical psychologist’s role in managing patients from hereditary cancer families Dr Jemma Gilchrist The comprehensive multidisciplinary management of patients with a suspected or identified cancer susceptibility has not routinely included a clinical psychologist. As a consequence, guidelines for the role of a clinical psychologist in this setting are not yet firmly established. Genetic investigations and cancer screening, prevention and treatment are often complicated and emotionally intense. This intensity exists not only for the patients and families, but for the team managing them. This presentation will outline the key aspects of the emerging clinical psychologist’s role at a tertiary service in a large metropolitan hospital. Common challenges such as decision-making and problemsolving, compliance, contrasting coping styles, grief and loss, confusion about medical information and non-constructive communication between family members will be addressed. Patient-centred team management is imperative and finally, the presentation will outline strategies used to ensure that all involved in care have a thorough understanding of any unique factors affecting a patient’s interactions, understanding or decisions so that excellent care is delivered and distress is minimised for all involved.
Impact of single nucleotide polymorphism (SNPs) testing in BRCA2 and in the general population Sarah L Ingham, Jane Warwick, Helen Byers, Fiona Lalloo, William G Newman, D Gareth R Evans BRCA1 and BRCA2 have been identified as major breast cancer susceptibility genes. Nineteen single nucleotide polymorphisms (SNPs) at 18 loci have been associated with breast cancer until the Summer of 2012. Our aim was to determine whether validated susceptibility SNPs were good predictors of breast cancer incidence in women in the general population and with BRCA1/BRCA2 mutations. BRCA1/2 mutation carriers identified through the Manchester genetics centre between 1996 and 2011 were included. Using published SNP odds ratios (OR) and risk allele frequencies, we calculated overall breast cancer risk for each woman. Age at breast cancer onset was assessed using cumulative risk analysis. Predictive ability of the SNPs was analysed using Harrell’s C concordance statistic. In BRCA1 mutation carriers, there was no association between overall breast cancer risk SNP score and age at breast cancer development. Harrell’s C statistic
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Life insurance and genetic testing policies 2013: implications for hereditary cancer and research A/Prof Kristine Barlow-Stewart The Life Insurance industry in Australia’s genetic testing policy became a standard (#11) in 2005 making it mandatory practice. The standard states that genetic testing would not be requested for applicants for new life insurance products or when applying for increases to existing policies. Such products include income protection, trauma and permanent and total disability insurance. If however an applicant knew their genetic test result, or their blood relative’s test result, they must disclose it in the application as the contract is one of good faith: the insurer needs to know what the applicant knows. In this context, family health history also needed to be disclosed. In 2011 (but only recently publicised), the Financial Services Council that represents all Life Insurance companies in Australia, introduced several changes to how applications were underwritten. Amendments
Abstract to standard #16 (Family Medical History) were instituted whereby requirements for disclosure of family history was limited to only first degree relatives in recognition of the difficulties some applicants were experiencing. This has significant implications for those with a family history of, for example, breast and ovarian cancer and may enable in some cases policies to be assessed at average risk on the basis of family history alone. A further change that however balances this benefit relates to research. An important interpretation of the genetic testing policy (2005) was that if the genetic test was undertaken as part of a research project where the result was not to be returned to the participant, the applicant did not have to disclose ever having had the test. Now applicants must disclose that they have had a genetic test, even if it was in a research project where they would not receive a personal result. While the insurers undertake that their participation in such research will not be into account when underwriting a policy, there is the potential that the requirement will impact on willingness to take part in research projects given issues of public trust and perception regarding life insurance companies. Information about the life insurance requirements for research participants will have to be included in the consent forms. Implications of these changes to policy will be discussed.
Psycho-educational interventions for women at high risk for breast/ovarian cancer Dr Kerry Sherman Participation in genetic risk assessment and genetic testing can be a stressful and challenging time for the individual concerned and the immediate family members. We particularly need to consider how best to provide support to minimise distress, and to facilitate communication and decision making. This workshop will provide examples of different psycho-educational intervention approaches that have been used successfully in the genetic testing context. In particular, focus will be given to the steps required to develop theoryguided web-based interventions addressing the informational and psychosocial support needs of this population.
S13 and methods of their assessment during genetic consultations Discussion and presentations using role play and case scenarios will be used to apply the risk factor in guiding assessment and the follow up care.
Mindfulness-based interventions Vincent Fogliati An increasing body of research has demonstrated the efficacy of mindfulness- and acceptance-based approaches in the treatment of a range of psychological and physiological problems, including depression, anxiety and chronic pain (Craigie, Rees, Marsh, & Nathan, 2008; Kabat-Zinn, Lipworth, & Burney, 1985; Ma & Teasdale, 2004; Segal, Williams, & Teasdale, 2002; Toneatto & Nguyen, 2007). Mindfulness has also been shown to reduce mood disturbances and stress for individuals living with cancer (Foley, Baillie, Huxter, Price, & Sinclair, 2010), as well as carers of patients with cancer (Foley, Baillie, & Fogliati, in preparation). This presentation will provide an outline of the definitions and theoretical principles of mindfulness, particularly within a clinical setting. A rationale for the use of mindfulness for a range of disorders will be provided, before a discussion of the similarities and differences between mindfulness-based approaches and other forms of therapy. The empirical literature on mindfulness will then be reviewed. Following the theoretical discussion, the practical application of mindfulness-based therapies in a psycho-oncological context will be considered. A particular emphasis will be placed on the fostering of moment-to-moment awareness without judgement, and the potential benefits for people with cancer and their families. Brief examples of mindfulness-based exercises and interventions will be provided, with a consideration of various modes of delivery.
Genetic aspects of hereditary melanoma Prof Graham Mann TBA.
Planning psychosocial care: what are the relevant areas of assessment? Using a risk factor tool to guide and plan personalized psychosocial interventions
Psychosocial aspects of hereditary melanoma
Prof Mary-Jane Esplen
Dr Nadine Kasparian
Objectives:
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To increase knowledge on specific psychosocial markers relevant to adjustment to genetic counseling and testing. To familiarize oneself with an evidence-based psychosocial risk factor tool to guide assessment and plan of follow up care. To gain increased knowledge of specific psychosocial interventions for care planning that can be tailored to patient and family need.
A significant proportion of individuals undergoing genetic testing experience psychological distress. In addition to the common psychological risk factors associated with having a serious medical illness, there are additional ‘‘markers’’ that are specific to genetic testing such as anticipated impacts of a genetic testing results and the perception of the disease. A brief self-administered psychosocial screening instrument specific for the genetic testing context was developed—GPRI—and can be used to guide counseling, identify individuals for further psychosocial assessment and follow up care. The workshop will provide an overview of psychological risk factors
Risk reducing surgery and medical prevention strategies in breast, ovarian, colorectal and endometiral cancer Dr Gillian Mitchell Many families have been identified as being at risk of a variety of cancers and require effective strategies to manage these risks. Risk management options range from early detection methods (screening) to strategies that actually reduce the risk of cancer developing. Riskreducing strategies encompass surgical approaches, such as removal of at-risk organs which will almost completely remove the risk of developing cancer, but also medical approaches to prevention through regular use of medications over a period of years. The medical prevention approach aims to reduce risk to a level that the at-risk person can choose to avoid the surgical prevention approach and feel confident to rely on screening instead.
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S14 The choice of cancer risk management strategies is a highly personal one with the final decision being an integration of many factors including personal experiences of cancer and use of risk management strategies (of self and family), age, personal cancer risks (a factor of age, family history, genotype) and personality/psychology. It is essential that medical professionals provide accurate information describing their personal cancer risks, expected benefit of the range of approaches as well as their limitations both in terms of their expected cancer risk reduction and the long-term consequences of the specific strategy. These discussions require time, often over a series of appointments with a number of medical professionals addressing the
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Abstract technical as well as psychological considerations of the various strategies. Once a strategy has been chosen ongoing follow up is desirable to help support that person through their recovery and to address any expected or unexpected consequences of the intervention. Local circumstances will dictate the form of that follow up. Long-term, prospective, data is still required for a more detailed understanding of the efficacy and toxicity of these prevention approaches. Local follow-up programs are ideally placed to collect and report on these outcomes, ideally in collaboration with other groups to generate results with sufficient statistical power to inform future clinical practice.
Abstract
Abstracts of Oral Presentations 01 Evaluation of the efficacy of two models of delivering information about treatment-focused genetic testing among young women newly diagnosed with breast cancer Bettina Meiser (Psychosocial Research Group, AU), Belinda Rahman (Psychosocial Research Group, AU), Kaaren Watts (Psychosocial Research Group, AU), Margaret Gleeson (Hunter Genetics, AU), Christobel Saunders (University of Western Australia, AU), Gillian Mitchell (Peter MacCallum Cancer Centre, AU), Kristine Barlow-Stewart (Centre for Genetics Education, AU), Judy Kirk (Westmead Institute for Cancer Research, AU), Kathy Tucker (Prince of Wales Hospital, AU) Background: Increasingly, women newly diagnosed with breast cancer with a relevant cancer family history or other high risk features are being offered genetic testing to guide their treatment (TreatmentFocused Genetic Testing). In this randomised controlled non-inferiority trial, we evaluate two ways of offering information about genetic testing to women at diagnosis. Methods: Women (\50 years) at diagnosis before definitive breast cancer surgery, with either a suggestive cancer family history or other high risk features, are invited to participate by their surgeon. Participants are randomised to receive information about TFGT either: (a) as educational materials (Intervention) or (b) at a genetics service (Control). Free rapid genetic testing is offered; results are disclosed at a genetics service. Self-report questionnaires assess decisional conflict about TFGT and other surgical and psychosocial outcomes at baseline, after receipt of education, and 2 weeks and 12 months after results disclosure. Results: 128 women completed questionnaires at baseline and post-education, all of whom opted for TFGT. Following receipt of information about TFGT, decisional conflict decreased with no difference in mean change between the two groups (95 % CI 3.2, 7.5, p = .43); general distress and cancer-related distress also decreased, with no difference in mean change between the two groups (95 % CI 0.4, 2.1, p = .18; 95 % CI 1.9, 4.8, p = .38); knowledge regarding TFGT increased, with no difference in mean change between the two groups (95 % CI 0.6, 0.3, p = .48). Conclusions: These data show that decisional conflict about genetic testing, general distress, cancer-related distress and knowledge is not inferior for participants in the intervention group compared to the control group. Brief written materials may be a safe and effective way of informing women newly diagnosed with breast cancer about TFGT. 02 Rapid genetic counselling and testing offered right after breast cancer diagnosis: first data on professional psychosocial care Daniela Hahn (The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, NL), Eveline Bleiker (Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, NL), Marijke Wevers (The Netherlands Cancer Institute/University Medical Center, NL), Titia Brouwer (University Medical Center Utrecht, NL), Senno Verhoef (Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, NL), Marianne Kuenen (Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, NL), Elly Kaats (Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, NL), Sanne Steenhouwer (University Medical Center Utrecht, NL), Margreet Ausems (University Medical Center Utrecht, NL), Neil Aaronson (Netherlands Cancer InstituteAntoni van Leeuwenhoek Hospital, NL) Introduction: Offering rapid genetic counselling and testing (RGCT) directly after the diagnosis of breast cancer and before surgery has
S15 been considered ‘‘too much, too soon’’. This has not, however, been tested empirically. We report here on the use and nature of professional psychosocial services in the RGCT setting. Methods: Data were collected as part of a multi-center randomized controlled trial comparing RGCT versus usual care in newly diagnosed breast cancer patients with a suspected hereditary form of the disease. The frequency of use of such services was determined by the actual use. Psychosocial caregivers completed a checklist summarizing the frequency and content of the psychosocial counselling sessions. Results: In total, 265 women were randomized directly after their breast cancer diagnosis to either rapid genetic counselling (n = 178) or usual care (n = 87). Thirty percent of the women in the RGCT intervention group received additional psychosocial care (personal, telephone). Of these 53 women, the majority (62 %) had only one psychosocial counselling session, 19 % had two, and 19 % had three or more sessions. The most common presenting problems were coping with breast cancer (45 %), followed by genetic counselling and testing (20 %), family communication and support (15 %), personal functioning (8 %), and strengthening the social system (4 %). Issues related directly to genetics were significantly more frequently discussed by the 26 women who opted, after their rapid counselling session, for rapid genetic testing (i.e., receiving DNA test results within 3 weeks) as compared to 11 women who opted for routine testing (i.e., DNA test results within 3 months). Conclusions: Approximately one-third of women who undergo RGCT seek additional psychosocial support. The large majority of these women require only one session. In general, coping with breast cancer was the most prominent topic discussed, although women who opted for the rapid track were more focused on issues surrounding genetics.
03 The experience of treatment focused genetic testing (TFGT) on genetic counselling practice in a major cancer hospital Linda Cicciarelli (Peter MacCallum Familial Cancer Centre, AU) Historically, genetic testing for BRCA1/2 mutations is offered to people with a personal and family history of cancer after they complete treatment. Molecular results were used primarily to help inform their future (metachronous) cancer risks and to provide a pre-symptomatic test for other family members. The test could take many months to yield a result. Advances in testing technology now allow newly diagnosed breast cancer patients and their treating specialists to receive results in a time frame that allows this information to influence treatment options. These options include the choice of surgical management and tailored adjuvant therapy. This new model of BRCA-related genetic testing has been termed treatment focused genetic testing (TFGT). The introduction of TFGT has required a shift in clinical practice within Familial Cancer Centres to incorporate requests for expedited genetic testing. As more health professionals become aware of TFGT, these requests continue to increase and it is predicted that in the future genetic testing may become routine for all newly diagnosed breast cancer patients irrespective of family history. In order to meet this demand, new models of clinical service provision will need to be developed. In our clinic, we have had to address counselling issues such as how patients may process genetic information in this acute setting in contrast to the conventional setting post treatment. This has necessitated modification of counselling techniques using a crisis counselling model more commonly used in pre-natal genetic counselling practice. For our genetic counsellors, the challenge has been to provide the relevant, family-specific genetic counselling and support, whilst allowing patients to maintain a sense of self autonomy in a highly stressful time in their life, with major competing information loads.
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S16 We will present our experience providing genetic counselling to women with a new breast cancer diagnosis and discuss the essential elements of counselling that are required in this acute setting.
04 Underestimated intimate issues after bilateral prophylactic mastectomy and immediate breast reconstruction in healthy mutation carriers Aad Tibben (Leiden University Medical Centre, NL), Jessica Gopie (Leiden University Medical Centre, NL), Caroline Saynaeve (Erasmus Medical Centre Rotterdam, NL), Moniek ter Kuile (Leiden University Medical Center, NL), Marian Menke-Pluymers (Erasmus Medical Center Rotterdam, NL), Reinier Timman (Erasmus Medical Center Rotterdam, NL), Marc Mureau (Erasmus Medical Center Rotterdam, NL) Introduction: Decision-making regarding bilateral prophylactic mastectomy and breast reconstruction (BPM-IBR) for healthy BRCA1/2 mutation carriers is not easy and the outcome can be potentially burdensome for the intimate relationship. Therefore, in the current analysis, the impact on body image, sexual and partner relationship satisfaction was prospectively investigated in women opting for BPM-IBR. Methods: Healthy women undergoing BPM-IBR completed questionnaires at baseline (T0, n = 48), and were followed-up 6 months (T1, n = 44) and after finalized breast reconstruction (median 21 months, range 12–35) (T2, n = 37). Multi-level regression analysis was applied to analyse the course of outcome variables. Results: Sexual and partner relationship satisfaction did not significantly change in time. Body image was significantly less positive at T1. After the breast reconstruction process, 37 % of the women reported that their breasts felt not pleasantly, 29 % was not satisfied with their breast appearance and 21 % felt embarrassed for their naked body. Both before and after BPM-IBR, about 35 % of the women indicated they felt uncomfortable when touched by their partner. A negative body image was predicted by high preoperative cancer distress. Conclusion: BPM-IBR was associated with adverse impact on body image, although satisfaction with the overall sexual and partner relationship did not significantly change in time. The psychosocial impact of BPM-IBR in unaffected women should not be underestimated. Therefore, psychological support should ideally be integrated both before and after BPM-IBR for respective women.
05 Experiences of CDH1 carriers with prophylactic gastrectomy: the need for multi-disciplinary care Eveline Bleiker (The Netherlands Cancer Institute, Amsterdam, NL), Maurits de Boer (The Netherlands Cancer Institute, Amsterdam, NL), Irma Kluijt (The Netherlands Cancer Institute, Amsterdam, NL), Alex Hartig (The Netherlands Cancer Institute, Amsterdam, NL), Daniela Hahn (The Netherlands Cancer Institute, Amsterdam, NL), John Plukker (University Medical Center Groningen, NL), Rolf Sijmons (University Medical Center Groningen, NL), Richard van Hillegersberg (University Medical Center Utrecht, NL), Annemieke Cats (The Netherlands Cancer Institute, Amsterdam, NL), Margreet Ausems (University Medical Center Utrecht, NL) Introduction: Carriers of a CDH1 mutation have an estimated lifetime risk of over 80 % to develop diffuse gastric cancer (mean age 40 years). As periodic surveillance has limited value, guidelines advise CDH1 mutation carriers to undergo prophylactic gastrectomy
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Abstract to eliminate their gastric cancer risk. However, it is unclear (1) what the impact is of this preventive surgical procedure on physical and psychosocial functioning, and (2) what the current experiences are with care provided to those undergoing this preventive surgery. Methods: In this population-based, cross-sectional study, all known Dutch CDH1 mutation carriers who had undergone prophylactic gastrectomy were invited to complete questionnaires and to participate in a semi-structured interview. Questions were posed on physical and psychosocial issues and the experiences with the care offered by the health professionals. Results: Twenty CDH1 mutation carriers (95 %) (M = 41 years, SD = 13; range 20–63) completed the questionnaire and 18 (86 %) participated in the interview, between 2 months and 5 years (M = 31 months) after gastrectomy. Respondents reported a wide variety of complaints (e.g., early satiety, extreme weight loss, fatigue, a negative impact on daily functioning), which decreased over time. Although the respondents were generally satisfied with the information and the medical care provided to them before and during their hospital stay, 44 % was not satisfied with the dietary care. In addition the follow-up after surgery was by 51 % of the respondents experienced as suboptimal. They expressed a need for more individual monitoring from a well-educated dietician, a surgeon or other clinician. Conclusions: Prophylactic gastrectomy in CDH1-carriers led to a number of long-lasting physical and psychosocial complaints. To optimize health care for CDH1-carriers undergoing total gastrectomy, dietary care should be offered by dieticians with specific knowledge of nutrition after (total) gastrectomy. We also suggest appointing a case-manager, which can be easily contacted also many years after gastrectomy.
06 Involvement of unaffected BRCA1/2 carriers in prophylactic surgery decision-making and related factors Julien Mancini (Aix-Marseille Univ, FR), Anne-Deborah Bouhnik (Inserm, FR), Emmanuelle Mouret-Fourme (Institut Curie, FR), Noe´mie Resseguier (Inserm, FR), Christel Protie`re (Inserm, FR), Catherine Nogue`s (Institut Curie, FR), Claire Julian-Reynier (Institut Paoli-Calmettes, FR) Introduction: To assess unaffected BRCA1/2 carriers’ perceived involvement in decision-making (DM) about prophylactic surgery. Methods: A French national cohort of unaffected BRCA1/2 carriers (Genepso study, 22 centers) were questioned 5 years after test result disclosure, using self-administered questionnaires including items about their involvement in DM (General preferences, perceived involvement in risk reducing surgery DM, Llewellyn-Thomas HA et al., 1991). Results: Among the 165 women who answered the 5-year questionnaire, 72 (43.6 %) had opted for Risk Reducing SalpingoOophorectomy (RRSO), 12 (7.3 %) had opted for Risk Reducing Mastectomy (RRM), and 7 of the latter (4.2 %) had opted for both interventions. Respondents who underwent RRM more frequently expressed a preference for playing an active role in the DM than those who did not (50.0 versus 19.6 %, p = 0.037), while no differences were observed between those who had RRSO and those who did not. Among the 12 women who opted for RRM, 10 perceived a patientdriven DM process and 1 perceived joint DM. Ten of them had immediate reconstruction with prostheses: 4 women felt they had played a passive role in the DM, 3 said it was a joint process and 2 felt they had played an active role in the DM. Among the 72 women who underwent RRSO, 47.2 % reported that the DM was a joint process, 37.5 % said they had played an active role and only 9.7 % a passive role. Perceived involvement in DM was therefore significantly lower among RRSO than RRM patients (p \ 0.01).
Abstract None of the women who underwent RRM/RRSO reported that they had been less involved than they would have liked. Conclusion: RRM was undergone by a very small number of women, most of whom expressed strong preferences for personal involvement in DM; whereas RRSO was undergone more frequently and appeared to be the result of a joint decision making process.
07 Changes in unaffected female BRCA1/2 mutation carriers’ body image: what is the impact of prophylactic surgery (mastectomy and salpingo-oophorectomy) Julien Mancini (Aix-Marseille Univ, FR), Noe´mie Resseguier (Inserm, FR), Anne-Deborah Bouhnik (Inserm, FR), Emmanuelle Mouret-Fourme (Institut Curie, FR), Catherine Nogue`s (Institut Curie, FR), Claire Julian-Reynier (Institut Paoli-Calmettes, FR) Introduction: The impact of various types of curative surgery on patients’ body image (BI) has been thoroughly documented. But very few studies have been conducted so far on this topic in the context of prophylactic surgery. The aim of the present study was therefore to assess the changes in unaffected female BRCA1/2 carriers’ body image, depending on the types of prophylactic surgery undergone. Methods: The study population consisted of unaffected female BRCA1/2 carriers who participated in the French national GENEPSO cohort study (involving 22 centers) and were followed for 5 years after disclosure of their test results, using self-administered questionnaires including repeated BI measurements (from baseline to 5 years). BI was assessed using a 12-item scale (Lodder, 2002) corresponding to three dimensions: ‘‘Values attached to BI’’, ‘‘Satisfaction with BI and perceived attractiveness’’, and ‘‘Satisfaction with breasts’’. Matched analyses between those who had undergone surgery and those who had not undergone surgery were carried out on the three dimensions of the scale. Results: Among the 165 women who completed the 5-year questionnaire, 10 had undergone risk-reducing mastectomy (RRM) and 72 had undergone risk-reducing salpingo-oophorectomy (RRSO) during the 5-year follow-up period. When considering RRM and the breast-related dimension of the scale, results showed that women who had undergone RMM had (1) lower ‘‘pre-surgery’’ scores (a poorer BI) than the control subjects (p \ .01); (2) and lower ‘‘post-surgery’’ scores than the control subjects (p \ .01). No effects of RRSO were observed on any of the three dimensions of the scale. Conclusion: Prophylactic mastectomy could affect BI, both before and after surgery. Studies on larger populations would help to confirm these results. Attention should be paid to the pre-surgery measures used as baseline measures, as they might anticipate the effects of future interventions.
08 Attitudes and information needs regarding next generation genetic testing through a Hereditary Cancer Clinic Lesley Andrews (Prince of Wales Hospital, AU), Ben Storey (UNSW, AU), Bettina Meiser (UNSW, AU) Background: Next Generation Sequencing for patients at risk of hereditary cancer syndromes has the capacity to identify genetic susceptibility to non-cancer related conditions, as well as variants of unknown significance. This study aimed to determine what benefits and shortcomings patients perceive in relation to panel and genomic testing; patients’ level of interest; what incidental results do patients wish to learn; patients’ feedback on a model of ‘‘bins’’ proposed by
S17 Berg et al., dividing genetic results into those with clinical validity, clinical utility or neither; and what additional educational materials to supplement genetic counselling prior to genomic testing are preferred. Methods: Eligible subjects had previously undergone inconclusive germline mutation testing for cancer susceptibility. A qualitative study framework was used through a semi-structured telephone interview which was recorded, transcribed and coded for analysis. Results: 15 of 56 invited patients were interviewed. The majority of patients perceived genomic testing to have advantages, and would have panel testing or genomic testing if offered. All said they would want all results from panel testing, not just those related to their previous diagnosis. Half indicated that patient preference should be taken into consideration regarding what results should be returned. The majority of participants (n = 13) thought that Berg’s model of ‘‘bins’’ was an effective model to aid clinicians and patients decide which type of results should be returned. The disadvantages that worried the participants the most about genomic testing included the potential psychological trauma of discovering an increased risk of untreatable diseases, the impact of having too much information to process, the impact on the family and the risk of discrimination with regard to insurance and employability. In order to give informed consent participants felt that a face-to-face discussion followed by an information booklet would be the best way to convey the information. All participants would want their information stored and reviewed periodically and informed if there had been any new developments.
09 Men’s interpretations of undergoing genetic profiling to determine future risk of prostate cancer Audrey Ardern-Jones (Royal Marsden NHS Foundation Trust, GB), Elizabeth Bancroft (Royal Marsden NHS Foundation Trust & Institute of Cancer Research, GB), Elizabeth Bancroft (Royal Marsden NHS Foundation Trust, GB), Elena Castro (Institute of Cancer Research, GB), Natalie Taylor (Royal Marsden NHS Foundation Trust, GB), Rosalind Eeles (Institute of Cancer Research & Royal Marsden NHS Foundation Trust, GB), Emma Rowley (University of Nottingham, GB), Karen Cox (University of Nottingham, GB) Introduction: A family history of prostate cancer (PC) is one of the main risk factors for the disease, suggesting the importance of genetics in PC development. Genome Wide Association studies have identified a number of common single nucleotide polymorphisms (SNPs) that confer small but cumulatively substantial risks of PC. These findings open the possibility for exploring the use of SNPs in PC risk stratification for targeted screening. It is anticipated that genetic profiling will soon become a routine part of clinical care yet little research to date has focussed on how this information will be used and interpreted, or how it will be managed within healthcare. The research presented aims to explore the psychosocial experience of men with a family history of PC undergoing genetic profiling to establish their risk of developing PC. Methods: A combination of quantitative questionnaires and indepth interviews were used. Questionnaires were completed by men at two time-points: both before and after going through the genetic profiling process. Data from 56 men completing both questionnaires and from 26 men who were interviewed are presented. Results: No measurable psychological distress was detectable in the cohort as they moved through the testing process. Three main themes were identified from the qualitative data analysis: feeling at risk, living with risk, and knowing one’s risk. The results identified a number of issues facing men at risk of PC that affect their health behaviours and engagement with preventative health strategies. The
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S18 strength of the men’s innate beliefs about their risk, shaped by genetic and environmental assumptions, outweigh the information provided by research genetic testing. Conclusions: The findings highlight the importance of providing contextual information alongside research genetic test results. Some key issues are highlighted to facilitate clinical practice and future research related to the use of genetic profiling to determine risk of PC and other diseases.
10 Development of genetic counselling skills and strategies through a peer observation and feedback model Adrienne Sexton (Royal Melbourne Familial Cancer Centre, AU), Lindy Hodgkin (Royal Melbourne Familial Cancer Centre, AU), Michael Bogwitz (Royal Melbourne Familial Cancer Centre, AU), Yasmin Bylstra (Royal Melbourne Familial Cancer Centre, AU), Kirsty Mann (Royal Melbourne Familial Cancer Centre, AU), Jessica Taylor (Royal Melbourne Familial Cancer Centre, AU), Brenda Greyling (Royal Melbourne Familial Cancer Centre, AU), Jan Hodgson (Murdoch Children’s Research Institute, AU), Margaret Sahhar (Genetic Health Services Victoria/University of Melbourne, AU), Maira Kentwell (Royal Melbourne Familial Cancer Centre, AU) Introduction: Observational feedback is a valuable learning tool for practising genetic counselling. In the Peer Experiential and Reciprocal Supervision (PEERS) model of mutual peer supervision that we developed, the aim was to provide learning opportunities for both observing and observed counsellors in a two-way process. Preliminary analysis of genetic counsellors’ experiences with this model indicate that the model facilitates learning about counselling skills/ strategies development in a familial cancer clinic. Methods: The aims for development of the model were reached by consensus (genetic counsellor team discussions) and these were to facilitate learning new approaches and skills, revitalise ways of practicing, and enhance supervision skills, in a two-way process, where the observing counsellor learnt from the observed counsellor, and vice versa. The model and analysis were based a social constructivism framework and involved a process of paired observation and feedback, where both counsellors observed each other and discussed each other’s session within 24 h of the session. These feedback sessions were audiorecorded and transcripts underwent thematic analysis. Results: Analysis of the feedback discussions revealed four main themes (Sexton et al. 2012, J Genet Couns): (1) ‘‘I wasn’t sure if I…’’ opportunity taken to voice doubts or internal questions that occurred during session for the observed counsellor conducting the session, (2) ‘‘I really liked that’’ positive feedback and validation from the observer, (3) ‘‘I wonder whether-’’offering of alternative views, insights and strategies by observer, and (4) ‘‘That’s a real thing for me to take away and think about’’ learning for both observing and observed counsellors. Conclusions: Here we focus on the learning outcomes for genetic counsellors using the PEERS model and potential benefits of the model as relevant to psychosocial aspects in a familial cancer setting.
11 Family matters: Additional telephonic counselling to support counsellees in disclosing hereditary cancer information to at-risk relatives: a pilot study Eveline de Geus (Academic Medical Center/University of Amsterdam, NL), Cora Aalfs (Academic Medical Center
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Abstract Amsterdam, NL), Fred Menko (VU University Medical Center, NL), Rolf Siimons (University Medical Center Groningen, NL), Hanneke de Haes (Academic Medical Center/University of Amsterdam, NL), Ellen Smets (Academic Medical Center/ University of Amsterdam, NL) Introduction: Despite the use of genetic services, counsellees do not always share hereditary cancer information with their at-risk relatives. This project aimed to develop and assess the feasibility of an intervention which supports counsellees in disclosing hereditary risk information to relatives. Methods: Intervention The intervention consists of a telephonic counselling session, delivered by five trained psychosocial workers, after counsellees received a summary letter from the department of clinical genetics. In cooperation with two experienced psychologists, an intervention protocol was developed based on Motivational Interviewing techniques, aiming to improve counsellees’ knowledge, motivation and self-efficacy with regard to informing relatives. Evaluation Consecutive counsellees visiting the clinical genetic department for possible hereditary breast/ovarian or colon cancer received additional counselling and completed a pre- and post counselling questionnaire. Feasibility of the intervention was based on (1) patients’ evaluation of the telephonic counselling; (2) analysis of audio recorded telephonic counselling sessions to assess whether the counselling was delivered according to protocol; (3) pre- and post counselling differences of the primary outcomes (knowledge, motivation and self-efficacy) and (4) recruitment potential. Results: Of all 358 counsellees who were invited between February and September 2012, 231 responded (65 %); 21 % declined participation and 43 % gave their consent to participate. 144 counsellees completed the pre-counselling questionnaire; 136 telephonic counselling sessions were recorded and 123 counsellees completed the post-counselling questionnaire (drop-out: 15 %). Preliminary results show that counsellees evaluated the intervention as positive. The psychosocial workers performed the counselling largely according to the protocol. Pre- and post counselling differences were found for knowledge: M1 = 7.23, M2 = 9.10, p = 0.025; motivation: M1 = 50.61, M2 = 47.70, p = 0.01 and self-efficacy: M = 23.80, M2 = 25.01, p = 0.021. Conclusion: The intervention, comprising an additional telephonic counselling session to support counsellees informing relatives about hereditary cancer, was found to be feasible. The effectiveness of the additional counselling will be investigated in a randomized clinical trial.
12 Developing a youth friendly model of genetic counselling Lucy Holland (ONTrac at Peter Mac Victorian AYA Cancer Service, AU), Mary-Anne Young (Peter MacCallum Cancer Centre, AU), Kate Thompson (ONTrac at Peter Mac Victorian AYA Cancer Service, AU), Ann-Maree Duncan (Peter MacCallum Cancer Centre, AU) Introduction: The period of adolescence and young adulthood (AYA) is characterised by rapid physiological and psychological change and the accomplishment of key tasks required for a successful transition into adulthood. Evidence suggests that healthcare professionals trained in adult or paediatric models of care find it difficult to provide adolescents and young adults (AYAs) with services which meet their developmental and healthcare needs. Genetic counselling is no exception and anecdotal evidence suggests that it is particularly difficult for these professionals to provide AYA which meets the expectations of clients and the
Abstract counsellor. AYAs present for genetic counselling at a time when they are already grappling with a multitude of developmental challenges. Additional anxiety due to the potential risk of a genetic disease during this life-stage may overwhelm the coping resources of young people. In this manner, a lack of specific models of genetic counselling and strategies for working with young people who are psychosocially vulnerable may compromise the quality of care for AYAs. Methods: A reference group was formed in 2012 to develop a model of AYA specific genetic counselling, comprising experts in adolescent health and genetic counselling. A literature review was undertaken following which a youth friendly model of genetic counselling was developed. Results: The model is based on principles of AYA development and care, in combination with principles of genetic counselling. It has been endorsed by the reference group and is being prepared for publication. Conclusion: This model will be presented with particular emphasis on the AYA development, principles of care and the application of these to genetic counselling practice. It is hoped that the implementation of this model will both support genetic counsellors in their practice and improve the situation for vulnerable young people who are faced with the uncertainty surrounding genetic testing.
13 Participation in a telephone based peer support program for BRCA1/2 mutation carriers. Victoria White (The Cancer Council Victoria, AU), Ashley Farrelly (The Cancer Council Victoria, AU), Michael Jefford (The Peter MacCallum Cancer Centre, Victoria, AU), Bettina Meiser (Prince of Wales Hospital, NSW, AU), Ingrid Winship (The Royal Melbourne Hospital, Victoria, AU), Mary-Anne Young (The Peter MacCallum Cancer Centre, Victoria, AU), Jessica Duffy (Prince of Wales Hospital, NSW, AU) Introduction: While community-based support programs exist for people with cancer, few such services exist for those with a cancerpredisposing gene mutation. We are testing the impact of a telephonebased peer support program (TPSP) for female BRCA1/2 mutation carriers (MC) in a randomised control trial. Aims: to (1) describe participation in the TPSP among peers and support recipients, (2) describe the topics discussed during peer contact. Method: Female BRCA1/2 MC were identified through Familial Cancer Centres in three Australian states. 279 women (response rate 46 %) indicated interest in the project and completed surveys assessing availability of support, interest in talking to similar others, unmet information/support needs, cancer experience and demographics. Women indicating interest in peer support at baseline were randomised to the TPSP intervention (receive support) or not. Volunteer peer-support providers underwent a 3-day training program and contacted women four to six times over a 4-month period. After each call, peers recorded: topics discussed, feelings during/after the call and call length. Results: 32 women have participated as peer-support providers. Of women completing the baseline survey, 73 % reported some interest in talking to similar others, and 63 % indicated some need to talk to other MC. Younger age (OR = 0.94 95 % CI 0.94–0.98) and higher levels of unmet needs (OR = 1.17 95 % CI 1.11–1.24) were associated with peer support interest. Eighty-seven women have been randomised to receive peer support. Of these, 92 % accepted their first call and on average received 3.6 calls (range 0–9). 15 % of women had one call. Call length, common topics discussed and how these changed over the course of contact will be presented.
S19 Conclusion: Many women with a BRCA1/2 mutation are interested in peer support and will participate in a TPSP. The variability in the number of peer contacts indicates that peer support programs should be flexible in the number of contacts offered.
14 The signal trial: screening for psychosocial problems in cancer genetic counselling Eveline Bleiker (The Netherlands Cancer Institute, Amsterdam, NL), Willem Eijzenga (The Netherlands Cancer Institute, Amsterdam, NL), Neil Aaronson (The Netherlands Cancer Institute, Amsterdam, NL), Daniela Hahn (The Netherlands Cancer Institute, Amsterdam, NL), Grace Sidharta (The Netherlands Cancer Institute, Amsterdam, NL), Irma Kluijt (The Netherlands Cancer Institute, NL), Margreet Ausems (University Medical Center Utrecht, NL) Introduction: Approximately 20 % of individuals who request genetic counselling and testing for cancer experience clinical relevant levels of general distress. Specific problems related to cancer genetic counselling often remain undetected. To increase the detection of problems, the Psycho-Onco-Genetics-Signal checklist (POGS), including the Distress Thermometer and a specific cancer-genetics problem checklist, has been developed and tested. The purpose of the Signal-trial is to evaluate the usefulness of the POGS-checklist for: (1) facilitating counsellee–counsellor communication about psychosocial issues; (2) increasing counsellors’ awareness of the problems experienced by the counsellees; and (3) facilitating optimal management of and referral for psychosocial problems. Methods: Individuals who request cancer genetic counselling are invited to participate in this multi-center randomized trial. All participants complete the POGS-checklist before their first counselling session. Counsellors receive a summary of the results of the completed POGS-checklist of participants from the Intervention group, but not from participants of the Control group. All counselling sessions are audio-taped for content analyses. Results: Preliminary data from the first 184 participants indicate that 78 % experienced psychosocial problems related to living with cancer, 36 % related to children, 37 % to genetics, 25 % to family and social issues, 17 % to general emotions, and 14 % to practical problems. In total, 20 % (n = 36), of the participants expressed a need for additional psychosocial services. Whether the specific problems are more frequently communicated in the Intervention group as compared to the Control group is currently being evaluated and will be presented. Conclusions: In line with previous studies on general distress, about 17 % of the counsellees report emotional problems. Interestingly, far more counsellees experienced problems related to ‘living with cancer’. If proven effective, the POGS-checklist can aid in facilitating communication about psychosocial problems, increasing counsellors’ awareness, and improving the management of these problems within cancer genetic counselling.
15 Li-Fraumeni syndrome: case study in a new clinical epidemiology cohort June Peters (National Cancer Institute, US National Institutes of Health, US), Phuong Mai (National Cancer Institute, US National Institutes of Health, US), Lindsey Hoskins (National Cancer Institute, US National Institutes of Health, US), Farzana Walcott (National Cancer Institute, US National Institutes of Health, US), Renee Bremer (National Cancer Institute, US National Institutes of Health, US), Mark Greene (National Cancer
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S20 Institute, US National Institutes of Health, US), Sharon Savage (National Cancer Institute, US National Institutes of Health, US) Introduction: Li-Fraumeni Syndrome (LFS) is a highly penetrant, autosomal dominant cancer predisposition syndrome which causes a wide range of cancers in children, adolescents and adults. About 70 % of families meeting classical LFS criteria have detectable germline mutations in the TP53 gene, versus 40 % of those classified as LiFraumeni-like (LFL). Methods: We are presenting the first description of our IRBapproved natural history study of LFS. Study eligibility criteria include individuals with classic LFS; LFL; a known germline TP53 mutation; individuals with choroid plexus carcinoma (CPC) or adrenocortical carcinoma (ACC); and individuals with 3 or more primary cancers. Participants provide medical records, biospecimens, and detailed epidemiology and lifestyle questionnaires. Eligible TP53mutation positive individuals are invited to participate in our comprehensive, protocol-defined cancer screening program at the NIH Clinical Center. Genetic education, counselling and testing is being offered to families and to individuals with unknown mutation status. We also have a pilot study assessing energy balance and physical activity. Finally, we are conducting family interviews for qualitative analysis as well as assessing family communication and social supports through an individualized Colored Eco-Genetic Relationship Map (CEGRM). Results: To date, 115 eligible unrelated families have been identified. A TP53 mutation has been identified in 36/38 (97 %) families with classic LFS, 30/51 (60 %) families with LFL, and 8/15 (53 %) individuals with multiple primaries, ACC or CPC. Mutation positive families and close relatives are invited to the Clinical Centre for screening and evaluation; a number of which families presented challenging psychosocial issues. We will present an illustrative family with two adolescents affected with osteosarcoma. Conclusions: Through our study and in collaboration with the newly-organized international LFS Exploration (LiFE) Consortium, we contribute to research on clinical management, genotype-phenotype correlations, gene discovery, and psychosocial issues in LFS families in order to improve LFS-related survival and quality of life.
16 Communication about oncogenetic information: do gastroenterologists and surgeons discuss heredity with their patients and, if so, what and how? Kirsten Douma (Academic Medical Center, NL), Evelien Dekker (Academic Medical Center, NL), Ellen Smets (Academic Medical Center, NL), Cora Aalfs (Academic Medical Center, NL) Introduction: Physicians not specifically trained in oncogenetics are often the first who need to recognise an indication for DNA-testing and provide patients with information. Insight into their performance in this regard is important to improve referral and optimize patient understanding. We aim to gain insight in the discussion of cancer genetic topics by gastroenterologists and surgeons as part of an intervention study which intends to optimize referral to genetic counselling of patients visiting the Gastro-Intestinal Oncology Centre Amsterdam (GIOCA). The intervention exists of a checklist for doctors to determine if patients need to be referred for genetic counselling. Methods: Following a pre-post design, before introduction of the checklist, 40 consecutive, new patients completed a short questionnaire which assesses their perception of the discussion of cancer genetic topics during the initial consultation. After introduction of the checklist, another 40 patients will complete a similar questionnaire. Additionally, initial consultations will be audiotaped until data
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Abstract saturation has been reached for a qualitative analysis of the discussion of cancer genetic topics. Results: Analyses of the pre-intervention questionnaires shows that doctors ask about cancer in the family in 80 % of consultations. In 95 % of these consultations, the doctor asked specifically about first-degree family members; in only 50 % about second-degree family members. Also, type of cancer and age at which family members had cancer was often not asked for, respectively in 70 and 50 % of consultations. Post-intervention data will also be presented. Conclusion: Contrary to our expectations, in most intake consultations physicians discussed cancer in patients’ family members. However, the amount of detail of the discussions was not enough to guarantee adequate identification of patients who need to be referred for genetic counselling. With the help of audiotapes and post-intervention questionnaires we can determine if doctors use the checklist appropriately and if referral is optimized.
17 A study on the impact of pre-test genetic counselling and genetic testing towards the psychological distress and cancer worry in unaffected relatives Sook Yee Yoon (Cancer Research Initiatives Foundation, MY), Meow Keong Thong (University Malaya Medical Centre, MY), Juliana Lee (University Malaya Medical Centre, MY), Aishah Mohd Taib (University Malaya Medical Centre, MY), Cheng Har Yip (University Malaya Medical Centre, MY), Soo Hwang Teo (Cancer Research Initiatives Foundation, MY) Introduction: To date, there are no formal familial cancer services in Malaysia, however, since August 2007, we have provided genetic testing and counselling services as part of the research collaboration between University of Malaya and CARIF. This project aims to study the impact of genetic counselling and testing on the anxiety, distress and cancer worry for individuals from BRCA families. Method: 75 relatives from 23 BRCA carriers’ extended families were keen for pre-test genetic counselling. The median age of these 75 relatives at the point of pre test counselling was 45 years (range age 24–64). The relatives seen comprised 7 Malays, 18 Indians and 50 Chinese. Questionnaires were administered at three separate occasions. Firstly, before pre-test genetic counselling session and if clients chose to proceed with BRCA predictive testing, the questionnaires are completed again after results disclosure, followed by a telephone survey after 1 year. The questionnaires was developed based on the HADS (Hospital, Anxiety and Depression Score) and CWS (Cancer Worry Scale). Results: We report that of the 70 relatives who responded, 32 tested positive and 38 tested negative for BRCA mutation. Of those who tested positive, only 9 had an increase in anxiety levels from normal/mild to moderate. No one reported severe anxiety levels before or after genetic counselling and testing. For relatives with negative results, none had an increase in anxiety levels. As for cancer specific worry, of those who tested positive, 3 reported an increase in cancer worry to high level and none who tested negative reported an increase. Conclusion: Based on the preliminary report of the 70 respondents, there has not been a significant increase in cancer specific distress or anxiety up to at least a 1 year follow up. This outcome showed good uptake of genetic counselling and testing among relatives from high risk families. Information provided by proband to their relatives may have prepared them psychologically prior by the time they come forward for genetic counselling and testing. Genetic counselling is an important process that has to be provided before and after genetic testing to reduce the potential
Abstract anxiety and distress that may have been experienced by affected individuals.
18 Factors which influence participants to follow up genetic test results as a result of taking part in a population based ovarian cancer research study? Mary-Anne Young (Peter MacCallum Cancer Centre, AU), Kathryn Alsop (Peter MacCallum Cancer Centre, AU), David Bowtell (Peter MacCallum Cancer Centre, AU), Gillian Mitchell (Peter MacCallum Cancer Centre, AU), The Australian Ovarian Cancer Study Group (The Australian Ovarian Cancer Study Group, AU), Nina Hallowell (Foundation for Genomics and Population Health, GB) Background: The Australian Ovarian Cancer Study (AOCS), a population based study, recruited women with invasive ovarian cancer between 2002 and 2006. BRCA1 or BRCA2 mutation testing has been undertaken. Women in whom a mutation has been identified, or their next of kin in the case where the women is deceased, have been told of a mutation in writing and the availability of obtaining mutation results through a family cancer clinic. The AOCS Psychosocial project has interviewed individuals who received these letters. Aims of AOCS Psychosocial study: 1. explore individuals’ understanding of information contained in the letter they received from the researchers 2. determine factors that inform individuals’ decisions about whether or not to contact a Familial Cancer clinic and take up genetic testing information Results: a total of 25 in depth interviews have been undertaken. Factors influencing follow up acted as both barriers and enablers. Personal Emotions, lived experience of cancer and readiness Social Familial obligations and genetic responsibility External Life demands and clinic processes Conclusions: Although AOCS participants were not primarily recruited to a familial cancer study as such, uptake rates were similar to previously reported familial cancer genetics studies. The results from AOCS provide a new insight into some of the barriers which prevent research participants, and their next of kin, accessing clinical genetic services and assist in understanding why there are low numbers of individuals who make contact with a clinical genetics service following participation in a genetic research project.
19 Why some individuals in mutation carrying families choose not to undergo predictive testing: a qualitative investigation Louise Keogh (University of Melbourne, AU), Heather Niven (University of Melbourne, AU), Alison Rutstein (University of Melbourne, AU), Louisa Flander (University of Melbourne, AU), Clara Gaff (University of Melbourne, AU), Mark Jenkins (University of Melbourne, AU) Introduction: The Australasian Colorectal Cancer Family Registry has generated genetic test results [mismatch repair (MMR) and biallelic mutYH mutations] on 1,234 participants. Participants could choose whether or not to receive these results through undertaking genetic counselling and confirmatory testing. Between 2003 and 2011 only 51 % of individuals opted to receive their genetic test results. Methods: Unaffected individuals under 70 years of age in MMR and mutYH mutation families who declined the offer of genetic testing were invited to take part in a qualitative interview about their
S21 reasons for declining. Semi-structured interviews were conducted on their understanding of genetic testing and their decision-making about genetic testing and screening. Interviews were digitally recorded, transcribed verbatim, and analysed thematically. Results: Interviews were conducted with 14 males and 19 females who had declined the offer. Participants comprised four stages of declining genetic testing. Stage 1 ‘Uninformed’: Five individuals were not informed enough about genetic testing to be able to make a decision. Stage 2 ‘Weak intention’: Six individuals intended to undergo genetic testing, but had not yet done so. Stage 3 ‘Conditional decliners’: eleven individuals declined at time of interview, but did not rule out genetic testing at some future point. Stage 4 ‘Unconditional decliners’: Eleven participants were strongly opposed to genetic testing both now and into the future. The reasons for declining varied. Those in Stages 1–3 were more likely to cite a perceived lack of benefit or priority of testing, while those in Stage 4 were more likely to identify perceived negative impact of genetic testing (worry or life insurance implications). Conclusion: In order to increase the proportion of individuals who choose to undergo predictive testing, levels of knowledge in the community about the purpose of predictive testing and barriers to uptake such as concerns about life insurance implications must be addressed.
20 Next generation education: daughters of BRCA1/2 mutation carriers report preferences for receipt of genetic information and support Andrea Patenaude (Dana-Farber Cancer Institute, Harvard Medical School, Boston MA, US), Nadine Tung M.D. (Beth Israel Deaconness Hospital, US), Paula D. Ryan M.D., Ph.D. (Fox Chase Cancer Center, US), Leif W. Ellisen M.D., Ph.D. (Massachusetts General Hospital Cancer Center, US), Larissa Hewett M.S.W. (Dana-Farber Cancer Institute, US), Katherine A. Schneider M.P.H. (Dana-Farber Cancer Institute, US), Kristen Shannon M.S. (Massachusetts General Hospital Cancer Center, US), Kenneth P. Tercyak Ph.D. (Georgetown University Medical Center, US), Aldridge M.S. Julie (Dana-Farber Cancer Institute, US), Judy E. Garber M.D., M.P.H. (Dana-Farber Cancer Institute, US) Introduction: Daughters of BRCA1/2 mutation carriers (DMC) aged 18–24 years have a 50 % chance of having inherited their parent’s deleterious mutation, placing them at elevated breast/ovarian cancer risk. Daughters have important, near-term decisions to make about genetic testing and cancer screening, but typically receive little professional attention. Data on their interest in education about BRCA1/2 and preferences for receipt of genetic information are lacking. Methods: Funded by a DOD Breast Cancer Research Program grant, 40 DMC, ages 18–24 years, were assessed by various methods including in-depth interviews. Based on subjects’ self-report of gaps in BRCA1/2 knowledge and cancer-related distress, researchers planned a psycho-educational intervention. Nine additional DMC evaluated pilot intervention pages, detailing preferences for BRCA1/ 2-related content and format. Results: Interest in education about heritability of BRCA1/2 mutations, associated cancer risks and screening/risk-reduction options from credible, professional sources was high. Web-based intervention was strongly preferred; potential utility of social media was described. Different online ‘voices of authority’ (physician, genetic counsellor, psychologist, peer) were preferred by women for learning about medical risks versus psychosocial implications of living with BRCA1/2. Women wanted definitions of basic genetic concepts, information about locating genetics professionals,
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S22 discussion of myths and misconceptions about BRCA1/2, peer stories, and the opportunity to plot a personal timeline for counselling, testing and screening. Subjects varied in their desire for medical statistics, suggesting a need for various ports of entry into the intervention depending on individual information style and level of BRCA1/2related fear. Conclusion: 18–24 year old DMCs were eager to receive targeted, credible genetic information, peer and professional support, and personalized health planning to guide decision-making about their BRCA1/2 cancer risks. Findings suggest age-targeted, psycho-educational intervention from professional sources geared to young adults’ information styles would be well-received. Improving knowledge and confidence regarding BRCA1/2 may encourage screening uptake at age 25.
21 Identifying cognitive and affective profiles of women undergoing BRCA1/2 genetic testing using cluster analytic techniques Kerry Sherman (Macquarie University, AU), Pagona Roussi (Aristotle University of Thessaloniki, GR), Suzanne Miller (Fox Chase Cancer Centre, US), Karen Hurley (Memorial Sloan Kettering Cancer Centre, US), Mary Daly (Fox Chase Cancer Centre, US), Andrew Godwin (Fox Chase Cancer Centre, US), Joanne Buzaglo (The Wellness Community, US) Introduction: Psychological distress impacts on genetic testing-related decision making and screening adherence. In order to facilitate quality decision making regarding genetic testing and risk management, it may be important to assess prior to testing which women are vulnerable to distress. Based on the cognitive-social health information processing model, we identified cognitive profiles of women at risk for breast and ovarian cancer. We predicted that women would form relatively homogenous cognitive profiles constituting psychological subtypes, based on their personal and familial breast and ovarian cancer experiences. Method: Prior to genetic counselling participants (N = 171) completed a study questionnaire concerning their demographics and cancer history, cognitive and affective responses to being at genetic risk, including measures of perceived risk, beliefs and expectancies, perceived value of screening and genetic testing, self-regulatory skills and cancer-specific (Impact of Event scale) and general distress. Results: Using cluster analysis, four cognitive profiles were generated: (1) high perceived risk/low coping; (2) low value of screening/high expectancy of cancer; (3) moderate perceived risk/ moderate efficacy of prevention/low informativeness of test result; and (4) high efficacy of prevention/high coping. The majority of women in Clusters 1, 2 and 3 had no personal history of cancer, whereas Cluster 4 consisted almost entirely of women affected with cancer. Women in Cluster 1 had the highest number of affected relatives and experienced higher levels of distress than women in
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Abstract the other three clusters. Conclusion: These findings have clinical implications as both cognitions (perceived risk, beliefs and expectancies, values and goals and perceived competencies) and distress have been related to behavioural outcomes regarding decisions about genetic testing uptake, risk reduction, and surveillance behaviours. Hence there is a need to consider the psychological profile of women undergoing genetic testing when designing counselling interventions and messages.
22 5-year parenthood rates after BRCA1/2 genetic testing in the GENEPSO-Psy cohort Julien Mancini (Aix-Marseille Univ, FR), Noe´mieResseguier(Inserm FR), Isabelle Pellegrini (Inserm, FR), Emmanuelle Mouret-Fourme (Institut Curie, FR), Catherine Nogue`s (Institut Curie, FR), Claire Julian-Reynier (Institut Paoli-Calmettes, FR) Introduction: Previous qualitative studies among young women carrying a BRCA1/2 mutation have shown that disclosure of the mutation might deter them from becoming pregnant. It was proposed here to quantify the impact of BRCA1/2 mutation disclosure on the long-term childbearing rate in a larger comparative sample. Methods: Women in the GENEPSO-Psy cohort (involving 22 French centres) who were under 45 years of age at the time of the genetic tests and devoid of breast or ovarian cancer, and had been followed up for 5 years after test result disclosure were included. A logistic regression model stratified on previous parenthood was used to determine predictors of the 5-year parenthood rate. Results: The sample analysed included 272 women, 126 (46 %) of whom were BRCA1/2 mutation carriers and 146 (54 %) were noncarriers. At disclosure of their test results, their mean age was 34 [range 18–44]; 75 % were living with a partner and 62 % already had at least one child: no significant differences depending on their mutation status were observed (all p [ 0.20). Among the women who were childless at disclosure, 39 (38.5 %) gave birth to at least one child during the 5-year follow-up period. Disclosure of a BRCA1/2 mutation was negatively but not significantly associated with childbearing (adjOR = 0.60, 95 % CI [0.25–1.49], p = 0.271); only living maritally significantly predicted the childbearing patterns (adjOR = 7.4, 95 % CI [2.9–18.4], p \ 0.001). Among the women with one or more child at disclosure, 29 (17 %) gave birth to at least one other child during the 5-year follow-up period. Disclosure of a BRCA1/2 mutation had no effect on the childbearing trends (adjOR = 0.97, 95 % CI [0.37–2.51], p = 0.955); only age significantly predicted the childbearing rates (adjOR = 0.76, 95 % CI [0.66–0.86], p \ 0.001). Conclusion: The disclosure of a BRCA mutation may impact future childbearing rates among nulliparous women. Larger studies are now required to confirm these findings.
