J Genet Counsel (2008) 17:92–100 DOI 10.1007/s10897-007-9130-3
ORIGINAL RESEARCH
Family-based Detection for Hereditary Hemochromatosis Michele Reyes & Diane O. Dunet & Karen Bandel Isenberg & Michael Trisolini & Diane K. Wagener
Received: 6 June 2007 / Accepted: 24 September 2007 / Published online: 19 October 2007 # National Society of Genetic Counselors, Inc. 2007
Abstract The purpose of this study was to examine motivators for and barriers to family-based detection for hereditary hemochromatosis (HH). HH patients (n=60) and HH siblings (n=25) participated in one-on-one or group interviews. Patients and siblings understood that HH “runs in families,” but not that siblings are at higher HH risk than other family members. Patient motivators included concern for siblings’ health, seriousness of untreated HH, and doctor’s encouragement to tell siblings that they need to seek diagnostic testing. Siblings were motivated by the seriousness of HH. Barriers included lack of symptoms, belief that HH was rare, and assumption that their doctor would have mentioned the risk of HH. Family-based detection continues to be a feasible part of an overall public health strategy to promote early detection of HH. Greater awareness of HH and its potential consequences, especially among high-risk groups, provides an additional potential avenue for public health action. Keywords Family-based detection . Family history . Genetic testing . Hereditary hemochromatosis . Family communication M. Reyes (*) : D. O. Dunet Division of Nutrition, Physical Activity, and Obesity, National Center for Chronic Disease Prevention and Health Promotion, CDC, 4770, Buford Hwy, NE, MS K-26, Atlanta, GA 30341, USA e-mail:
[email protected] K. B. Isenberg : M. Trisolini Health Care Quality and Outcomes Program, RTI International, Waltham, MA, USA D. K. Wagener Genomics and Statistical Genetics Program, RTI International, Rockville, MD, USA
Introduction A family health history is often used as an assessment tool to identify individuals who may be at risk for many chronic diseases of public health significance including coronary heart disease, diabetes, several cancers, osteoporosis, asthma, and hemochromatosis (Rich et al. 2004; Yoon et al. 2003). “Family-based detection” of heritable disease requires communication within each of three groups: (1) health care providers and their patients about the need to inform family members of their genetic risk of disease; (2) patients and their family members about heritable health conditions; and (3) family members and their health care providers about family health history so that appropriate diagnostic testing can be performed. The purpose of this study was to examine the motivators and barriers to the use of family-based detection as part of a public health strategy for hereditary hemochromatosis (HH). Family-based detection to identify people at risk of developing HH has been practiced for decades, long before the relatively recent identification of some genetic mutations responsible for this autosomal disorder of overabsorption of iron (Feder et al. 1996). Currently, enhanced case detection among individuals with hemochromatosis symptoms and family-based detection remain the most practical strategies for early diagnosis and treatment of hemochromatosis patients. Although serum iron levels can be quickly assessed by simple blood tests, diagnosing hemochromatosis is often challenging because its early symptoms (e.g., fatigue, arthralgias, weakness, weight loss, and abdominal pain) are non-specific and resemble symptoms of various other diseases. The later stages of HH involve serious health conditions (e.g., cardiomyopathy, cirrhosis, and liver cancer) for which the underlying cause is often missed.
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Phlebotomy, the treatment of choice, is relatively easy and inexpensive. If begun early in the course of iron loading, phlebotomy treatment can prevent most related symptoms and later complications (Barton and Edwards 2000; Centers for Disease Control and Prevention 2006). Basing HH diagnoses on genetic testing alone is not currently recommended because the clinical penetrance of the HH mutations varies from 1–50%. Initial HH diagnosis is usually based on serum iron testing and confirmed by genetic testing and quantitative phlebotomy (Centers for Disease Control and Prevention 2006). Communication within families about genetic conditions such as HH can influence the awareness and behavior of individuals at increased risk and also the accuracy of information brought to health care providers by family members (Sorenson et al. 2003; Kardia et al. 2003; Koehly et al. 2003). However, such communication may engender anxiety and stress in the patient. Moreover, family members may be in denial and may resist understanding the seriousness of the message and the need to act on it (Audrain-McGovern et al. 2003; Ayme et al. 1993; Forrest et al. 2003; Lehmann et al. 2000). Communication involves a transactional or mutual influence process of sharing meanings (Galvin et al. 2003). Factors affecting family communication of genetic health information include relational histories, family roles, culture, gender, and communication rules (Forrest et al. 2003). Research with patients who report communicating with other family members about their own health condition shows that, in most cases, the message is not shared equally with all members (Green et al. 1997; Sorenson et al. 2003). Among family members at potential risk for HH, a patient’s siblings are at much higher risk (1/4) of having the same (hemochromatotic) genetic mutations than is the general population (1/400) (Adams et al. 2000). Gender influences disclosure about disease risk, as women are more likely to share such information than are
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men (Forrest et al. 2003; Gaff et al. 2005; Lehmann et al. 2000). Other barriers to disclosure include being out of touch (Green et al. 1997), a reluctance to alarm others (Forrest et al. 2003), implicit family rules about with whom information may be shared (Forrest et al. 2003; Sorenson et al. 2003), family rifts (Forrest et al. 2003), emotional distance (Hughes et al. 2002), marital state (Sorenson et al. 2003), and preventability of the disease (Lehmann et al. 2000). Information may be spread quickly or slowly over years; messages may be shared face-to-face, through mediated interactions, or through other family members. This study focused on HH patients and their siblings. The primary goals were to examine (1) the understanding of HH patients regarding their disease and the need to communicate the risk of HH with their own siblings; and (2) the understanding of siblings regarding HH, consequences of untreated HH, and need for diagnostic testing.
Methods Study participants included both hemochromatosis patients and people who had a sibling diagnosed with HH. Primary data collection methods consisted of a mix of individual interviews, triads (small focus groups with 2–4 participants), and focus groups with up to eight participants. The authors identified key topic areas relevant to each subgroup of patients and siblings. We then developed discussion guides for the interviews and focus groups as well as brief written questionnaires to obtain demographic information. Details of the topics included in the discussion guide are presented below. Recruitment efforts focused on clinics that provide therapeutic phlebotomies to HH patients. Clinic staff members were contacted by mail and then briefed by telephone about the study. To solicit study enrollment, clinics were provided display posters that read: “Are you a hemochromatosis patient?” “Do you have a brother or sister
Received a physician diagnosis of hemochromatosis at least 6 months prior to the a
telephone screening call, but not before 1997
Was the index case in his/her family; has at least one living sibling who shares both parents Was 30–64 years of age Had undergone at least one phlebotomy treatment for hemochromatosis a
Two genotypes for HH were identified in 1997, thereby permitting genetic testing for the condition
Fig. 1 Inclusion criteria for patient participants
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Was not the index case in his/her family Shared both parents with someone diagnosed with hemochromatosis Was 25–64 years of age Was told that at least one of his/her siblings has hemochromatosis Fig. 2 Inclusion criteria for sibling participants
with hemochromatosis?” The poster noted a $50 cash incentive for participation in a 2-h interview or focus group. In addition, short articles were provided to community newsletters, and announcements were placed in newsletters, Web sites, and chat rooms of the Iron Disorders Institute, American Hemochromatosis Society, and American Liver Foundation. Because northern European descent is a risk factor for HH, primary patient recruitment efforts focused on two cities with large populations of this ethnicity: Boston, Massachusetts, and Chicago, Illinois. Figures 1 and 2 list the eligibility criteria for patient and sibling participants. To determine eligibility and to schedule an interview, potential participants called a toll-free number. As part of the eligibility screening telephone call, patients were asked whether they had told their living brothers and sisters about their hemochromatosis diagnosis. As a further strategy to recruit siblings, patients were asked to inform their own siblings about study participation.1 Sibling participants were not required to be related to a patient enrolled in the study. If siblings were diagnosed with hemochromatosis, they did not need to have undergone phlebotomy treatment. Interview Methods We had intended to group patients by those who had told their siblings about their disease and those who had not. However, as only one of the patient participants had not told siblings, we did not use this grouping strategy. In addition, we had intended to group siblings according to their hemochromatosis testing history (biochemical test only, genetic test only, or both tests); however, we only used this grouping strategy if scheduling allowed. From the outset we planned data collection and recruited respondents to obtain a mixture of personal and group interviews in order to obtain the in-depth perspective of a 1:1 individual interview as well as the perspectives of participants who could interact with each other as they discussed their HH 1 Patient and sibling identities were kept confidential. Family members were not grouped during triads or focus groups. Data from patients and siblings were never linked.
experiences. Because our focus was in family communication, we were particularly interested in including a range of communication settings to explore motivators and barriers. Our analysis included an assessment of differences in responses among participants who were interviewed individually, in small groups, and in focus group settings. Participants were assigned to interviews based on their willingness to participate and ability to attend scheduled group sessions; thus, participants did not self-select an interview type (individual or group). In total, 13 patients and 14 siblings were interviewed one-on-one. We also conducted 15 patient triads (totaling 40 patients), four sibling triads (totaling 11 siblings), and one patient focus group. Interviews and triads were conducted in person when possible, otherwise by phone. The focus group was conducted in person. After obtaining permission from the participant(s), all of the sessions were audiotaped and in addition, notes were taken on a laptop computer to record verbatim responses. In triads and focus group interviews, a discussion leader was assisted by a note-taker who was part of the research team. All interviews were transcribed. Individual interviews with patients or siblings were designed to take no more than 90 min, and group interviews lasted approximately 2 h. In group settings, a moderator led each discussion group, while a note taker was responsible for recording participant observations including quotes, key points, and discussion themes in each topic covered during the sessions. Moderators led discussions using one of four semi-structured interview guides designed for: patients who told their siblings, patients who did not tell their siblings, siblings who received biochemical testing only or both biochemical and genetic testing, and siblings who received genetic testing only. Patient interviews included a personal history regarding the diagnosis of HH and its impact on their lives, reasons and processes for talking (or not talking) with family members, reactions of family members (if appropriate), the patients’ understanding of the risk to family members, experiences with health care providers, and needs and sources of information. Sibling interviews included a personal history regarding how they learned of their sibling’s HH diagnosis and their
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reactions, their understanding of their own risk for the disease and the different types of testing and reasons for being (or not being) tested, impact on their life, experiences with health care providers regarding the diagnosis of hemochromatosis in the family, and needs and sources of information. In all of the interviews and group discussions the process of information dissemination within the family was given special attention, focusing on motivators and barriers to the flow of information. The discussion included questions regarding who delivered the information, how and when the information was shared, the level of detail and expressed concern, the quality of the relationships between family members, and aspects of the relationship that made the communication easier or difficult. The Institutional Review Boards at both the Centers for Disease Control and Prevention (CDC) and RTI reviewed and approved each protocol and our procedures for obtaining informed consent.
Results
Analyses
A key theme identified in the analysis was that nearly all patient participants understood that HH “runs in families.” Patients often explained their understanding in multiple ways, the most frequent being that HH is a genetic or hereditary disorder. Other responses included the understanding that HH had been passed on to them by their parents and that they can pass it on to their children. Similarly, when asked how much risk their family members had of getting HH on a 1 to 7 scale, with 7 being the highest, a majority of patients rated the risk either 6 or 7. In the group interviews, these ratings were done privately, in writing, by each respondent before sharing them with the group, so that responses would not be influenced by the group’s discussion. A notable finding is that while a majority of patients recalled being told by their doctors at the time of diagnosis that HH runs in families, and that they should talk to their siblings about getting tested for HH, only three patients reported that doctors provided them with information on how to talk with their siblings about the need to get tested. Few patients reported that their doctors informed them that siblings were at higher risk for HH than other blood relatives. Only five patients reported doctors providing them with specific percentages for the risk faced by siblings. Most often, patients indicated receiving more general information from doctors about sibling risk, such as siblings having a risk or a potential to develop HH because it runs in families. As one patient participant stated, “[My doctor] didn’t give me specific information as far as risks. He just said [HH] was hereditary and [siblings] should be tested.” Similarly, as another patient explained, “My doctor didn’t go into any percentages. It was just that, if I had it, there was a likelihood that my sister could have it.”
Study investigators (Trisolini and Bandel) used NVivo qualitative software (NVivo, Version 1.3 2000) and recorded each transcript as a text passage. All authors worked together to review the raw results and to develop codes. Code development was guided by the topics in the interview guides. Coding of the text passages was then conducted by Trisolini and Bandel working sequentially. The text passages were next grouped across interviews by code and combined into “node reports.” Tallies of coded responses were also generated. Next, all authors working as a group reviewed the node reports to identify common themes. Using an iterative process, all authors worked sequentially to summarize the common findings and themes identified from the analysis.
Table I Characteristics of the Study Participants
Gender Male Female Mean agea Caucasian Ethnic backgroundb Irish English, Welsh, or Scottish a
Patients (n=60)
Siblings (n=25)
31 (52%) 29 (48%) 47.2 years 51 (85%)
10 (40%) 15 (60%) 51.6 years 23 (92%)
34 (57%) 24 (40%)
18 (72%) 8 (32%)
Although within the specified age ranges, the exact ages of three patients and one sibling are missing. b Participants were asked to check all ethnic backgrounds that applied. Consequently, the percentages can sum to more than 100%.
Respondents included 60 patients and 25 siblings who selfselected to participate in the study. A combination of individual interviews, triads, and focus group sessions were conducted with patients (n=26 sessions) and siblings (n= 19 sessions). The majority of study participants were Caucasian (85% of patients, 92% of siblings), health insured (87% of patients, 82% of siblings), and of Irish heritage (57% of patients, 72% of siblings). Table I provides a summary of participant characteristics. The results are presented separately for patients and siblings. We did not find any differences in themes based on individual versus group interviews, or among the different sibling groups that were formed based on the type of diagnostic testing they received for HH. Patients: Understanding Hereditary Hemochromatosis
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Concern for their siblings and their siblings’ health “Obviously it’s a disease that can kill you if you don’t take care of it . . . I think it’s very important that you talk with your siblings so they’re aware of the disease so they can make decisions about what they’re going to do about their own health.” “I am concerned for them. I’d like to see them stay as healthy as possible.” Doctor’s suggestion to talk with siblings about getting tested “The reason I decided to talk with my brother about the hemochromatosis is that my doctor had suggested that they be tested.” Recalling a family history of relatives who had died of liver failure or heart disease and suspecting that undiagnosed HH was the cause “Looking back at your family history and seeing a pattern of early death and heart problems and so forth it’s kind of what made me want to let everyone know too.”
–
Reading information on the Internet encouraging HH patients to tell their family members to get tested “Everything I read said that it was hereditary and they strongly urged your family to get tested.” Understanding that since HH is hereditary there is a need to talk to siblings about getting tested “Because the genetic component. I felt like they should know.” Feeling an obligation to tell their siblings “I thought I owed them their best effort in having a healthy future. If there was a possibility they could have something, they had to know immediately.” Fig. 3 Motivating factors for patients to talk with siblings about getting tested
Patients: Communication Motivators and Barriers All except one of the patients in our study informed most or all of their siblings about their HH and the need for siblings to get tested. The one patient who had not told his siblings did not recall being informed that HH is genetic and that biological siblings should be tested. All but five patients reported that they had told all of their siblings about the need to get tested. Those who spoke with some, but not all, siblings reported two main reasons for not speaking directly to a particular sibling: (1) a strained relationship with the sibling, or (2) the sibling having mental illness or physical disability. In the former situation, participants said they relied on other siblings or parents to contact that sibling. The majority of patients reported that within 1 month of their diagnosis, they had personally talked to their siblings about the need to get tested. Our analysis indicated that concern for their siblings’ health was the primary factor that motivated most patients to talk with their siblings about the need to get tested. Most indicated that the primary message they would emphasize for other patients talking to siblings would be the potential for preventing the often severe complications from untreated HH that can result in other serious chronic diseases (e.g., liver failure, heart failure, arthritis, diabetes, and others) and
can be life-threatening. Figure 3 lists the reasons commonly cited by patients as motivators for talking to their siblings about getting tested for HH. None of the patient participants indicated difficulty in talking with their siblings about getting tested for HH. The factors patients most frequently reported as having helped to make the conversations easier were close relationships with siblings and having information about HH they could use in their conversation. The sources of information that patients cited as most useful were the Internet and their doctors, although a small number of patients also reported using books about HH and HH patient advocacy organizations. Most patients reported that they received negative sibling reactions to the news that the siblings themselves should be tested for HH. The most common negative reaction was a lack of concern or lack of immediacy about the need to get tested for HH. Other patients reported that their siblings indicated a lack of concern because they had no symptoms and therefore did not believe they could have HH. Some patients expressed frustration with the broader lack of awareness about HH among the public and in the popular media. As a result, they were concerned that some siblings might think that getting tested was not important because they had never heard of HH before. Similarly, most patients reported never having heard of HH before their own diagnosis.
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Seriousness of HH/potential for side effects and death if undiagnosed and untreated “When I found out that the iron deposits could build up in your liver and cause cirrhosis of the liver and other health problems, I think that’s when I decided to go ahead and be tested for it.” Sibling recommendations to get tested “The E-mail [from my sister] that said my doctor said you should go get tested. So I did.” Wanting to know if undiagnosed health concerns were related to HH “Knowing that it was in the family and I was having a lot of problems. At that point, I was desperate for anything to make me feel better.” Doctor recommendation Learning that HH is hereditary Free HH testing Fig. 4 Motivating factors for siblings to get tested for HH
Siblings: Understanding the Need for Testing A common theme among siblings was that the information they received from their HH patient siblings was most often about HH and the need to get tested, but less likely to include information about personal risk. The most frequent recollections were hearing that HH means having high iron levels, that HH patients need to have blood drawn, and that they should get tested. Few siblings recalled being told that HH is hereditary and about the potential health impacts of undiagnosed/untreated HH. Half of siblings felt that their brother or sister provided little detail about HH. As one sibling explained, “She sent an e-mail to everybody in the family and said ‘I have been diagnosed with hemochromatosis and my doctor said it is hereditary and all of my siblings should be tested for it.’ It was very light.” Another theme was that most sibling participants were not concerned about themselves when they first heard of their sibling’s diagnosis with HH. Similarly, very few sibling participants reported that they felt it was urgent to contact a doctor about their risk of HH after learning of their sibling’s diagnosis. Reasons included never having heard of HH, thinking their doctor would have mentioned it if it was serious, not feeling any symptoms, and not thinking of HH as lifethreatening. Siblings were asked to rate, on a scale of 1 to 7, how likely they thought it was that they had HH when they first learned of their sibling’s diagnosis: Very few siblings rated the likelihood as high as 6 or 7, while equally few felt they had no likelihood of having HH. As noted, these ratings were done privately, in writing, by each respondent in the group interviews before sharing them with the group, so that responses would not be influenced by the group’s discussion. Although most cited a lack of urgency for testing, nearly half of the sibling participants were tested within 1 month of learning of their sibling’s HH diagnosis. Most others
were tested within 6–12 months, and a very small minority indicated they were tested one or more years later. The majority of siblings reported that their doctor did not tell them about their personal risk for HH when getting tested. Of the four siblings who said their doctor did mention their risk of HH, none reported learning about specific details or percentage levels of risk. Similar to patients’ reported experiences, the information received was often general and worded such as, “if your sibling has [HH], there’s a good likelihood you have it too.” Siblings: Testing Motivators and Barriers When asked what motivated them to get tested, siblings’ responses varied. Figure 4 lists several motivating factors cited by siblings for getting tested for HH. The most frequent response, although from fewer than half of respondents, was the severity of the potential complications of HH—up to and including death—if left untreated. Nearly half of sibling participants reported receiving both the blood and genetic tests for HH. Among these siblings, the most common reasons for having the genetic test in addition to the blood test were to confirm that they had HH or because of their doctors’ recommendations. Siblings who did not get a genetic test gave various responses when asked why they chose not to be tested. Responses cited blood ferritin tests that did not indicate high iron levels, lack of health insurance, and a belief that the genetic test would not provide any additional information. In addition, few siblings reported that their doctors encouraged them to get the genetic test. A majority of siblings indicated that their primary message to encourage family members to get tested for HH would be to emphasize the benefits of preventing the potentially severe complications of untreated HH. As one sibling explained, “...
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if you say [if] you get diagnosed early you can avoid heart disease, liver disease, [and] arthritis, [I think] a lot of people would be pretty interested in that.” Several siblings also suggested focusing on the importance of determining HH status in light of the risk of passing it on to children.
Discussion The framework for this study includes the assumption that in order for HH family-based detection to be effective, patients must understand and perceive their family members’ genetic risk for hemochromatosis, understand the need for siblings to obtain diagnostic testing, and communicate with their siblings about the need for testing. In addition, HH siblings must understand their risk for HH, understand their need for diagnostic testing, and obtain testing. Regarding patients, our findings show that patient participants understood their family members’ genetic risk for hemochromatosis but did not fully understand the elevated risk of siblings compared to other family members. In spite of this, patients we interviewed understood the need for their siblings to obtain diagnostic testing and communicated this information to their siblings. Similar to previous research findings (Audrain-McGovern et al. 2003; Forrest et al. 2003; Lehmann et al. 2000), patients in our study indicated that factors motivating their communication were concern for their siblings’ health and a sense of family obligation. Information provided by a patient’s physician, or obtained from sources such as the Internet, also motivated patient participants to inform their siblings of the need to obtain a diagnostic test for HH. However, communication by patients with their siblings is only one part of what must happen for familybased detection to be successful. Siblings must then act upon the information and get tested themselves. We found that most sibling participants initially believed they were not at high risk for HH, nor did they have a sense of urgency to obtain diagnostic testing. Nevertheless, the majority of sibling participants reported that they had taken action within a few months and received an HH diagnostic test. A strong motivating factor for seeking an HH diagnostic test was to understand the seriousness of HH complications. Additional evidence for this is the responses that sibling study participants gave when asked, “If you were a newly-diagnosed HH patient, what would you say to your siblings to motivate them to get testing?” A major theme emerged from these responses: they would emphasize the benefits of preventing severe HH complications. Thus, the key motivating factors for siblings to get tested themselves were (1) their understanding of genetic risk, and (2) the potentially serious long-term health effects of HH.
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The Health Belief Model (HBM) (Glanz et al. 1997) provides a useful framework for interpretation of these study results and suggested public health action steps. In particular, four concepts of the model are reflected in the responses of sibling-participants. First, the HBM concept of perceived susceptibility of genetic risk was identified by sibling participants as one of the key messages they recommended be used as part of family-based detection. Both genetic counselors and health care providers can take concrete action to ensure that patients are adequately informed about the heightened risk of siblings for HH. Secondly, perceived severity of HH complications was also reflected in sibling comments. Those who understood the long-term health consequences of untreated iron overload identified this as a motivator for seeking diagnostic testing. The HBM concepts of perceived benefits and perceived barriers were also identified by sibling participants. In particular, knowledge about HH status for the benefit of their own offspring was often identified as an important motivator. The HBM Model also provides potential change strategies that can be informative in public health planning. For example, to address perceived barriers, reassurance, incentives and assistance, and correcting misinformation are suggested action steps. Genetic counselors and health care providers can play an important role by helping families to understand potential common barriers and providing encouragement and reassurance; information about low-cost or anonymous testing; and correcting commonly-held misinformation. Such cues to action, a fifth concept in the HBM model, also include strategies such as “how to” information and reminder systems. Some patients reported that they themselves created a reminder system for their family members, such as repeated telephone calls or followup emails to their siblings. Finally, the HBM concept of self-efficacy reflects confidence in one’s own ability to take action. Strategies here can potentially be addressed at three levels. For patients, one strategy could be to provide information that emphasizes the increased HH risk to their siblings and tips for communicating the need for diagnostic testing. For siblings, information that explicitly addresses barriers such as how to obtain testing, how to deal with fears related to health insurance coverage, or how to talk with their physician about HH may be helpful. Finally, training for physicians such as CDC’s HH on-line course for Health Care Providers offers guidance to clinicians in conveying key information to patients as well as using family histories to detect HH (Reyes et al. 2004). Genetic counselors and health care providers continue to play a key role in HH family-based detection by encouraging HH patients to communicate with their siblings about HH risk. Such professionals can provide patients with diagnosis and treatment information for siblings. It is important
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to explain that not everyone with the HH mutation will develop disease. Siblings should be told to have their serum iron levels tested over time so that they can get the proper phlebotomy treatment to prevent HH health consequences. Other public health opportunities for HH family-based detection include raising the public’s awareness of HH. HH is often asymptomatic in its early stages. Patients in this study indicated some of their siblings were reluctant to seek diagnostic testing because they “felt fine” or because they “had never heard of hereditary hemochromatosis.” Many of our HH study patients reported that their doctor had urged them to communicate with siblings about the need for sibling testing, but had not mentioned that HH could be detected by diagnostic testing even when no overt symptoms were present. One approach would be for genetic counselors, physicians and other information sources such as patient Web sites to emphasize the need for diagnostic testing even when siblings are asymptomatic. In addition, efforts to raise public awareness about hemochromatosis may be warranted, especially among groups disproportionately affected such as people of northern European descent. To focus attention on the importance of family-based detection for a variety of diseases and conditions, the US Surgeon General recently launched a national public health campaign to encourage all American families to learn more about their family health history. The US Department of Health and Human Services created a Web-based tool to help users organize family health history information and print it out for presentation to the family doctor and other family members. This tool can be accessed at https://familyhistory.hhs.gov/. Our study has at least two limitations. First, it was not designed to allow for a direct examination of communication between patients and their family members, nor were we able to match HH patients and their biological siblings. Because the patient and sibling group members were presumed to be unrelated to each other, we cannot draw a firm conclusion about the communication cycle within natural family systems. However, a synthesis of the results from the patient groups and from the sibling groups suggests that family-based detection is a feasible strategy for early detection of HH. A second limitation is that all but one of the 60 patients in our study had told their siblings about the need for diagnostic testing. To fully understand the effectiveness of family-based detection as a public health strategy will require research involving patients who do not inform their siblings even when they understand siblings’ risk. Unfortunately, recruiting such patients may be difficult and raises the issue of whether people who communicate less with their siblings are also less inclined to participate in a research study. Such research may require a different study approach such as an anonymous survey.
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To our knowledge, this is the first study to describe the motivators and barriers to HH family-based detection and to demonstrate how family-based detection can occur among HH patients and their family members. Although the data were not linked into patient–sibling dyads, these patients and siblings came from the same population and thus allowed an opportunity to explore the concurrent views of HH patients and their siblings. Evidence from this study shows that HH patients understood family risk and were motivated to share relevant information with their siblings. Similarly, HH siblings understood their own risk of developing HH and acted upon this information by getting tested. Although family-based detection alone cannot provide a complete solution for the early detection of HH, it continues to be a key public health strategy. Acknowledgments Funding for this research was provided by the National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention. Contract No. 2002001-00123 TO#22. We would like to acknowledge the Iron Disorders Institute, the American Hemochromatosis Society, and the employees from hospitals and blood banks in the greater Boston and Chicago areas who assisted us with recruitment. We especially thank the study participants for their contributions to this research. We acknowledge the individuals who worked diligently to conduct the interviews for this study: Marian Sullivan, Carol Prindel, Sean Hogan, Holly Massett, Chris McClure, and Linda Dimitropoulos. Shelly Harris assisted with the analysis. Finally, we thank Alison A. Heintz for assistance with manuscript preparation.
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