Curr Genet Med Rep (2015) 3:49–56 DOI 10.1007/s40142-015-0069-7

GENETIC COUNSELING AND CLINICAL TESTING (BS LEROY & N CALLANAN, SECTION EDITORS)

Thinking Differently About Genetic Counseling Service Delivery Angela M. Trepanier1 • Stephanie A. Cohen2 • Dawn C. Allain3

Published online: 8 April 2015  Springer Science + Business Media New York 2015

Abstract With the increasing integration of genomic testing into medical care, there is a need to evaluate how genetic counseling services are provided, identify barriers to obtaining services, and establish ways to improve service delivery to ensure adequate patient access to high quality services. This article reviews the current status of genetic counseling service delivery including recent innovations. We describe some key factors that affect access and delivery including the time-intensiveness of genetic counseling sessions, the labor intensiveness of case preparation and follow-up services, and geographic barriers. Current remedies for improving access to genetic counseling services and their effectiveness are reviewed. Factors that potentially pose barriers for increasing access, such as reimbursement for services, are discussed. Finally, we propose ways for genetic and non-genetic professionals

This article is part of the Topical Collection on Genetic Counseling and Clinical Testing. & Angela M. Trepanier [email protected] Stephanie A. Cohen [email protected] Dawn C. Allain [email protected] 1

Center for Molecular Medicine and Genetics, Wayne State University, 540 E. Canfield Street, 2375 Scott Hall, Detroit, MI 48201, USA

2

Cancer Genetics Risk Assessment Program, St. Vincent Hospital, 8301 Harcourt Rd. #100, Indianapolis, IN 46260, USA

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Division of Human Genetics, The Ohio State University, Wexner Medical Center, 2001 Polaris Parkway, Ste. 1000, Columbus, OH 43240-2000, USA

to work together to develop targeted strategies for enhancing access to genetic counseling services in their own practice areas. Keywords

Genetic counselors
Service delivery
Access

Introduction Genetics services are comprised of genetic counseling with or without genetic evaluation—a diagnostic work-up with physical examination to look for features associated with a genetic condition. Genetic testing is often part of services provided as well. Genetic counseling services are typically provided by Master’s trained genetic counselors, genetic nurses, and/or physicians. Genetic evaluations are typically performed by physician geneticists or other physicians with appropriate expertise. Genetics services, like most medical services, have typically been provided using an in-person service delivery model for new patient consultations and follow-up visits. The traditional way of providing services is fairly labor intensive. A 1987 time study showed that providers, which included attending geneticists, genetic counselors, genetics fellows, a social worker, a patient coordinator, and a secretary, on average spent an estimated 7.1 h on each newly referred patient [1]. This time included the work done prior to the clinic visit, during the clinic visit, and post clinic follow-up services. Attending physicians spent on average 90 min per family encountered; genetic counselors spent 61 min. Similarly, a 2008 clinical real-time workflow study showed that physician geneticists and genetic counselors collectively spent an average of 7 h on each new patient and 3.5 h on each follow-up patient [2]. When looking at time spent by provider type, genetic counselors spent

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47.9 % of their time on patient-related activities and 25.9 % on direct patient care, compared to 24.4 and 18.3 %, respectively, for physician geneticists (who spent the largest proportion of their time on non-patient care activities such as research). Patient-related activities included tasks such as reviewing the medical literature, reviewing medical records, writing letters, working on insurance appeals, following up with other providers, and telephone follow-up with patients [2]. This distribution of effort is quite different than what happens in primary care. For instance, a study of family physicians showed that 61 % of their time was spent in the examination room, whereas 23.3 % was spent on indirect patient-related activities [3]. Studies investigating the practices of genetic counselors specifically have found that in-person, new patient genetic counseling appointments are long, typically lasting between 31 and 60 min; return visits typically last 15–45 min [4, 5•, 6]. The preparation and follow-up work required is also significant, with genetic counselors across all specialties most frequently spending 15–30 min per case in preparation and 15–60 min in follow-up activities [4, 6]. When whole genome/exome sequencing is involved, the time commitment may be more extensive. Recent studies estimate that an average of 2–13 h is required to provide adequate pre-test, in-person genetic counseling (combined physician and genetic counselor time) [7–10]. The time spent in genetic counseling sessions and in doing patientrelated tasks before and after session affects the number of patients genetic counselors can see. Despite this, more than half of genetic counselors report that wait times for the third next available appointment are less than 2 weeks [5•, 6]. Beyond time and labor intensiveness, another factor that affects access to genetic counseling services provided by genetic counselors is geography. As is true for many health professions, the number of genetic counselors is more limited in rural areas of the United States. According to the National Society of Genetic Counselors (NSGC), the primary professional organization for genetic counselors in the United States, California has the most genetic counselors with 289 for the state’s 37,254,000 residents. There are no NSGC members in Wyoming and only two in the states of Alaska and Mississippi [11, 12]. Using a strictly in-person model of service delivery puts undo strain on patients in underserved areas who need services, since they may experience long appointment wait times and/or have to drive long distances for each genetics appointment. For providers doing outreach clinics, using an in-person model affects their efficiency in terms of the time it takes to travel remote sites. The time and labor intensive nature of genetics services, including genetic counseling services provided by genetic

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counselors, combined with the limited number of genetic counselors in rural areas, affects patient access to services. The situation is likely to get worse as the demand for genetic counseling services increases in parallel with the increasing integration of genomic testing into medical care. Therefore, it is critical to develop and support strategies that increase access to genetic counseling services. Below we delineate ways genetic counselors and others are working to enhance access through alternative service delivery models and approaches aimed at increasing efficiency.

Improving Access Through Alternative Service Delivery Models Genetic counselors are employing a number of different service delivery models. Cohen et al. surveyed genetic counselor members of the NSGC regarding their use of four defined service delivery models: in-person genetic counseling, telephone genetic counseling, group genetic counseling, and telegenetic (videoconferencing or webbased) counseling. The study revealed that just a little over half (54.7 %) of respondents utilize an in-person service delivery model exclusively [5•]. Telephone genetic counseling was the second most frequently used model. A study of cancer genetic counselors found that the traditional inperson pre- and post-test genetic counseling model was still used by over 90 % of respondents; however, only 52 % used that model more than half of the time [13]. A significant majority (86.5 %) were using an in-person pre-test only model with result disclosures being provided by telephone or by some other methods for a subset of patients [13]. Genetic counselors who utilize service delivery models other than the traditional, two-visit in-person model do so as a way of enhancing efficiency and access to care [4, 5•, 13, 14]. Such efforts seem to be successful given that reported wait times for genetic counseling services tend to be shorter when alternative models are used [2, 4, 5•]. Telephone Genetic Counseling Genetic counselors are using the telephone for genetic counseling in two ways: for disclosing genetic test results after a pre-test genetic counseling session and for providing pre- and post-test genetic counseling. This model increases access to genetic counseling by eliminating geographic barriers as well as the barrier imposed by limiting the availability of services to normal work hours [15]. When used for disclosing results by telephone, genetic counselors employing this model indicate that it reduces the burdens on patients imposed by travel time, having to travel when ill, and having to wait for an in-person appointment [16].

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Two randomized trials showed that telephone genetic counseling is non-inferior to in-person genetic counseling for hereditary breast ovarian cancer in areas of knowledge, satisfaction [17], delivering patient-centered communication [18], minimizing adverse reactions/distress, and promoting informed decision making [17, 18]. Schwartz et al. also found that telephone genetic counseling resulted in a cost savings of $114 per patient due to shorter counseling sessions, less patient travel, and lower overhead costs [17]. However, both randomized trials found that genetic testing uptake was lower among those randomized to the telephone genetic counseling arm [17, 18]. Further analysis in one trial found the difference in testing uptake was moderated by ethnicity, with minority women being less likely to pursue genetic testing [19]. This difference could be related to logistical factors of testing. Those who have telephone genetic counseling have to take the additional step of going to a clinic or doctor’s office to get their blood drawn rather than having it drawn at the conclusion of the in-person session [19]. There could be other factors at play, warranting further investigation. Nonetheless, the benefits of telephone genetic counseling in terms of increasing access and potentially decreasing costs, and its non-inferiority to in-person counseling in psycho-educational measures, support its use as a viable alternative service delivery model. Telegenetic Genetic Counseling Another model of service delivery that has been employed in clinical genetics and genetic counseling is the telemedicine (such as videoconferencing) model, referred to as telegenetics. Telegenetics, like telephone genetic counseling, improves access for those living in rural and other underserved areas. An additional benefit is that clinicians and patients can see one another. This allows the clinician to collect pertinent physical examination information when needed, to evaluate patient nonverbal cues, and to use visual aids to explain genetic concepts. Different ways of providing telegenetics services have been described. For instance, in Australia, where cancer genetics services are offered through telegenetics, patients meet in-person with a genetic counselor at a remote site and with the medical geneticist via real-time videoconferencing. The genetic counselor meets with the patient inperson before the videoconferencing session and is present in-person during the videoconferencing session with the physician [20]. In contrast, in Manitoba, Canada where telegenetics services are widely available for prenatal, general genetics, metabolic, and hereditary breast ovarian cancer indications, the patient meets with the genetic counselor and/or geneticist exclusively by videoconferencing; a clinic coordinator or nurse available is on-site [21]. In yet a different approach, in the state of Florida in

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the United States, pediatric genetic patients meet with a genetic counselor via videoconferencing for collection of family and medical history. The patient then has a physical examination by an on-site pediatrician who orders genetic testing in straightforward cases. Complex cases are referred for in-person consultations with a clinical geneticist [22]. A systematic review of telegenetics services identified 14 articles representing 12 studies [23•]. Most of the studies investigated patient satisfaction, which was high. Three studies looked at patient knowledge and found that it increased post-telegenetics service; three looked at anxiety which either decreased or stayed the same [23•]. Two studies compared outcomes in those who had telegenetics services to those who had in-person genetic counseling and found no differences [23•]. Although no studies did a formal cost analysis, one study indicated a cost savings of $700 per clinic, the cost for a genetic counselor to travel to a 2-day outreach clinic to serve 12 patients [24]. The same study estimated a $1000 cost savings per person served, but the cost of the videoconferencing equipment was not factored in since the equipment was already available [24]. All of the studies reviewed were limited by sample size [23•]. In addition, given the different ways in which telegenetics services were provided, one cannot draw conclusions regarding which way(s) of providing services may be most effective. Nonetheless, telegenetics, like telephone genetic counseling, offers a way to expand access to genetic counseling services in underserved areas while reducing clinician and patient travel time and the concurrent costs. A limitation is that telegenetics requires access to costly videoconferencing equipment. However, a modified version of telegenetics which uses a webcam in lieu of videoconferencing equipment reduces such costs.

Improving Access Through Strategies Aimed at Enhancing Efficiency The use of alternative methods of service delivery alone may not be sufficient to increase access to genetic counseling services. The actual components of a service delivery model may impact the efficiency as much as the mechanism by which genetic counseling is provided. Components include medical and family history collection, documentation of a session, the way results are delivered to a patient, data management, physician involvement, and billing practices [25]. For example, traditional genetics clinics historically have written an encounter note/letter to the referring physician and to the patient. This duplication of effort may not be necessary, and certainly is not a standard practice in any other area of medicine. Below are some strategies currently being employed by genetic counselors to increase efficiency.

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Use of Technology Many of the efficiency-improving techniques used in genetic counseling have revolved around use of technology. Technology has been developed to improve identification of individuals at increased risk who may benefit from genetic counseling. Typically this involves collection of basic family history information in the primary care physician office, on-line through a HIPPA compliant portal, or in a routine screening setting such as a mammography unit [26– 30]. These tools allow for easier collection of family history information and more accurate documentation; some also have risk assessment capabilities [28, 29]. Using technology to perform preliminary risk assessments potentially frees up some of the time a genetic counselor spends doing patient-related activities before and after a session. The use of technology to discriminate between low and high risk patients could also increase the number of appropriate referrals to genetics clinics and as such maximize the use of a genetic counselor’s expertise. Web-based tools have also been implemented in genetic counseling practices to collect and generate a pedigree prior to a genetic counseling visit. The aim is to decrease the amount of time spent in-person gathering and documenting family medical history, subsequently reducing consult times or allow for more time to be spent on other in-person counseling activities [31, 32]. Automated letters can be generated from some software programs (Hughes Risk Apps, http://www.hughesriskapps.com/ and University of Texas Southwestern Cancer Gene Connect, https://www4. utsouthwestern.edu/breasthealth/cagene/), potentially decreasing time genetic counselors spend on patient-related follow-up activities. Although not many genetic counselors are currently using electronic tools to collect and manage family history due to difficulties with implementation, most believe they would improve efficiency [33]. Videos have been used to provide pre-visit education so that the session can focus less on the information, and more on the counseling aspects. A web-based pre-education module improved patient experience with their genetic counseling session and perceived personal control [34]. A similar study documented that a pre-visit website decreased a patient’s informational needs [35]. Although efficiency of the session was not evaluated by either study, it certainly could be a by-product of this type of tool. More studies need to be done documenting the impact of web-based tools, if any, on the genetic counseling session itself. Hilgart et al. evaluated the acceptability of a variety of information and communications technologies, referred to as ‘‘e-genetics,’’ from the perspectives of patients and providers [36]. Patients indicated that electronic family history questionnaires, text message appointment reminders, and email-based queries to providers were acceptable uses of

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technology [36]. Overall, concerns about e-genetics were centered on security, privacy, and the lack of human contact. Patients indicated that having the opportunity to choose which e-genetics services were most suitable to the individual was important. Providers preferred in-person consultations to web-based ones, but acknowledged the benefit of providing services via webcam with regard to access [36]. Alternative Staffing Models Genetics counseling sessions are often conducted by a genetic counselor and physician who is present for a portion or all of the session. Physician availability has been documented as a rate-limiting factor in accessing genetic counseling services in some clinics. In two studies, genetic counselors reported that when they see patients without a physician, they are able to increase the number of patients served [4, 5•]. A time study revealed that a genetic counselor only model of practice for cancer genetic counseling resulted in less time spent on case preparation, in the session, and on follow-up when compared to the genetic counselor/physician model [37]. Despite the reduction in time, genetic counselors still completed the same number of patient-related activities [37]. For some indications, such as pediatric genetics services and adult (non-cancer) services, physician involvement is critical since the diagnostic work-up with physical examination and the ordering of diagnostic tests are key components. Taking this into consideration, Hannig et al. developed a genetic counselor only model of practice in Tennessee, shortly after genetic counselors in the state became licensed. Medical genetics referrals were triaged either to the traditional medical genetics clinic (staffed by physicians and genetic counselors) or to a genetic counseling only clinic (medical geneticist as an advisor) [38•]. As desired, establishment of the genetic counseling clinic reduced patient appointment wait times and reduced physician patient load [38•]. In an effort to meet increasing demand, decrease patient wait times, and more fully integrate genetics services across the medical center, the Cleveland Clinic’s Center for Personalized Genetic Healthcare established clinics staffed by genetic counselors only, with a supervising physician on location, as adjuncts to the traditional genetic counselor/physician-staffed clinics [39]. Cases were triaged to the medical geneticist as needed. Genetic counselors were able to provide services in 25 non-genetics clinics. In addition, they were able to increase the number of patients seen from three patients per FTE per week to 7 per week, and felt that they had the capacity to actually triple volumes [39]. Together, the Tennessee and Cleveland Clinic studies suggest that the genetic counselor only model of practice may be a reasonable approach to enhancing access to genetics services for some indications.

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Unfortunately, the ability to implement point of service care through an independent genetic counselor practice model is limited by genetic counselors’ ability to bill independently. The Centers for Medicare and Medicaid do not recognize genetic counselors as billable non-physician healthcare providers. Despite the unrecognized status, encounters provided by genetic counselors can be billed to non-Medicare or Medicaid payers via the 96040 CPT code. At the Cleveland Clinic, genetic counselor only appointments for patients with private insurance were billed using the 96040 CPT code. Over 50 % of genetic counseling encounters billed to third party payers received some degree of reimbursement [39]. In contrast, the billing department at the Tennessee institution that developed genetic counselor clinics decided not to bill for the genetic counselors’ time [38•]. A number of efforts to assess, establish, and/or increase reimbursement for genetic counselor provided services are underway at both the national and local level [39–42]. The financial viability of genetic counselor only clinics as a means for improving access to services depends on the success of these efforts. Another alternative staffing model that has been proposed is the use of a genetic counseling ‘‘assistant’’ for certain tasks, such as routine pedigree collection, to allow for better use of a genetic counselor’s time. This practice has been in place for a long time informally. Some sites have employed genetic counseling graduate students in work-study positions, or utilized an intern (paid or unpaid) who desires experience prior to applying to graduate school. Medical assistants, nurses, and/or administrative assistants have also assisted with some of the patient-related activities associated with genetic counseling. At least two centers (University of Texas Southwestern and the Cleveland Clinic) have advertised job descriptions for a genetic counseling assistant. The efficacy of utilizing an assistant is currently being evaluated, so it remains to be seen whether this staffing model will allow for increased access to services and/or efficiency of care [43]. In addition, the cost of adding clinic staff to the service delivery model will need to be taken into consideration, particularly as these assistants would also be non-billable personnel. Inter-professional Practice (Collaborating with Other Health Professionals) Inappropriate (low-risk) referrals to genetic counselors potentially impact access for those with a legitimate need for services by tying up appointment slots. One way to increase appropriate referrals is to train other providers to perform risk assessment themselves, using board-certified genetic providers as resources to ensure that the quality of services is maintained while increasing access [44, 45]. One approach has been to develop long-distance intensive

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learning to train physicians and advanced practice nurses working in community settings in hereditary cancer risk assessment. This training includes providing support with weekly web-based case review for teaching and bestpractice purposes [44]. Another approach in the cancer genetics setting has been to triage complex cases to a board-certified genetic counselor, while straightforward cases are handled by a non-genetic healthcare provider with support from a genetic counselor [45, 46]. This allows for better use of the genetic counselor’s skills and time, while capitalizing on local healthcare providers’ abilities to perform basic skills on site.

Conclusions At a 2005 policy roundtable, the National Human Genome Research Institute (NHGRI) stated that one of its major goals was ‘‘…to enhance health care in the USA through the integration of genomic medicine into mainstream medical practice,’’ [47]. More recently, Mary Claire King, winner of the Lasker Award for her work on hereditary breast ovarian cancer, proposed population screening for BRCA1 and BRCA2 mutations in women 30 and older [48]. To provide genetic counseling/testing services at a population level and achieve integration of genomics into everyday practice require a new level of access. Broad access is unlikely to be achieved in the absence of employing alternative service delivery and staffing models, as well as implementing other strategies to increase efficiency. Improving access will require the combined efforts of genetic counselors, geneticists, primary care providers, specialists, administrators, insurers, health IT professionals, and policy makers. Genetic counselors must continue to investigate and employ varied service delivery models and work with their institutions and employers to develop strategies for improving efficiency without losing high quality care. Geneticists must be willing to work with genetic counselors, as they have in Tennessee and other states, to triage genetics services to the standard geneticist/genetic counselor-staffed clinics or to genetic counselor only clinics [38•, 39]. Non-genetics providers (specialists and primary care) need to collaborate with genetics professionals to establish ways to increase access to genetic counseling services, taking into consideration the characteristics of their individual patient populations. Primary care professionals must recognize their own abilities to provide some level of genetics services, but know when to triage to genetic specialists. All providers need to be open to alternative service delivery models including telephone genetic counseling, telegenetics, web-based approaches, or some combination thereof. They also need to

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be willing to work with health IT professionals to incorporate technology, such as web-based risk assessment tools and decision support tools in electronic health records, some of which have already been shown to improve overall medical care [49]. Simultaneously, genetic counselors need to continue work being done to improve their ability to bill independently. This work includes their outreach to payers and efforts to pass federal legislation recognizing genetic counselors as providers for the Centers for Medicare and Medicaid. [42]. However, genetic counselor billing and reimbursement efforts must also be supported by geneticists and other health care providers in order to ensure reimbursement for appropriate genetic counselor only provision of services. Once new methods of financially sustainable service delivery have been implemented, both genetic and nongenetics providers must evaluate the effectiveness of the services for their patients. It will be important to assess whether the intended outcomes (e.g., informed decision making, improved patient adherence, and/or adaptation to risk) are achieved and whether patients are satisfied with the services received. It will also be important to evaluate which patient factors should be taken into consideration when deciding how to deliver genetics services. One example of an innovative program developed to increase access to genetics service is JScreen. An on-line, saliva-based carrier screening program for Ashkenazi Jewish individuals, JScreen was developed in response to barriers to carrier testing [50••]. The program includes online pre-test education, at-home sample collection, and post-test result disclosure by email, telephone, or videoconferencing, depending on patient knowledge (as assessed by an on-line quiz) and test results. Referrals for in-person genetic counseling are made as needed. The patient’s primary care physician is involved such that if a patient requests testing, the test request is sent to their physician for review and signature. Once signed, a test kit is sent to the patient for sample collection. In the first 6 months of the program, almost 700 people participated, 38 % of whom proceeded with carrier screening. Participants were generally satisfied with the service, many indicating they had had difficulty accessing carrier screening services in the past [50••]. Programs like JScreen will not work for everyone. Some patients prefer in-person contact with a provider, some may not have adequate background knowledge to understand information presented in a web-based service, and some may not have access to the necessary technology such as a computer or the internet. Furthermore, some indications may be better suited for in-person consultations. Yet, the availability of alternative services for the right patients potentially increases access for all. Such programs also can

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free up a busy primary care provider’s time by offering an alternative to in-person carrier screening discussions. In summary, the increasing integration of genomic testing into medical care is likely to increase demand for genetic counseling services. The in-person only, labor and time intensive ways genetic counseling services have been provided in the past are not conducive to promoting expanded access. Therefore, it is critical to develop and evaluate alternative ways of providing services. Genetic professionals have already begun this work. However, success in expanding access to genetic counseling services requires a collaboration and commitment from all health professionals, including primary care providers, specialists, administrators, insurers, and policy makers. If as health professionals we fail to work together to increase access to genetic counseling services, we stand to jeopardize the promise of improved health outcomes associated with genomic medicine. Disclosure AM Trepanier, SA Cohen, and DC Allain declare no conflicts of interest. Human and Animal Rights and Informed Consent All studies by AM Trepanier, SA Cohen, and DC Allain involving animal and/or human subjects were performed after approval by the appropriate institutional review boards. When required, written informed consent was obtained from all participants.

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Curr Genet Med Rep (2015) 3:49–56 50. •• Grinzaid KA, et al. Creation of a national, at-home model for Ashkenazi Jewish carrier screening. J Genet Couns. 2014. doi:10. 1007/s10897-014-9800-x. Example of an innovative way to use technology and alternative service delivery models to increase access to genetic carrier screening.