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2 Genetic Service Delivery: The Current System and Its Strengths and Challenges CuRRENT STATuS OF GENETIC SERvICE DELIvERy Debra Lochner Doyle, M.S., C.G.C. Washington State Department of Health The Washington State Department of Health and the University of Washington entered into a cooperative agreement in 2004 with the Health Resources Services Administration to establish the Genetic Services Policy Project (GSPP). The purposes of this project are to • characterize how genetic services are currently delivered within the United States, • explore what kinds of issues in the pipeline will affect the delivery system, • evaluate potential alternative models for the delivery of genetic services, and • identify and assess public policies that could better promote cost- effective, accessible, and equitable delivery of services (Doyle and Watts, 2008). To accurately assess what the future of genetic service delivery will look like, a necessary first step is to collect information about the current system. A major difficulty in collecting such information is that there is no agreed-upon description of what is included in the term genetic services. 

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS For purposes of the GSPP, genetic services were defined to include genetic testing, diagnosis of genetic conditions, genetic counseling, and treatments for individuals with, or at risk of, genetic disorders. Genetic testing includes laboratory analysis of DNA, RNA, chromosomes, or gene products, with the exception of genetic analysis of pathogens, “recreational” genetics (e.g., ancestry and dating services), paternity testing, and forensics. Using this definition, GSPP compiled data on genetic services capacity, socioeconomic and political variables, and relevant legal and regulatory information for all 50 states in the United States. The resulting report, released in 2008, describes what genetic services are delivered, who delivers them, who receives them, and where services are provided. Additionally, the report describes genetic services offered throughout the stages of life, from preconception to prenatal to newborn, pediatric, and adult testing. Just as the definition of genetic services varies, genetic service providers are an equally indistinct group. Genetic service providers can be categorized into two general groups: those who are formally trained and certified in genetics (e.g., genetic counselors, medical geneticists, genetics nurses) and all other providers. Credentialing organizations make it possible to identify and count those providers with formal genetics education and training. However, it is extremely difficult to determine how many and what type of other health care providers are offering genetic services as part of their practice. For example, most obstetricians and pediatricians are not formally certified in genetics, but it is standard practice for these providers to offer carrier screening to prospective parents or to do chromosome studies on a child who is suspected of having a genetic abnormality such as Down syndrome. Unfortunately there is a huge data gap that hinders attempts to research the current system because there is no way to count, let alone characterize, all health care providers who may offer genetic services. Furthermore, given that many non-genetics professionals are offering genetic services, there is concern about the quality of care being provided. For example, in a survey of 363 physicians from Mount Sinai Medical Center, 71 percent rated their knowledge of genetics and genetic testing as “fair” to “poor,” and almost all said they would refer their patients to a genetic counselor (Menasha et al., 2000). In a study about testing of the adenomatous polyposis coli (APC) gene for familial adenomatous polypo- sis, 31 percent of physicians interpreted the results of the test incorrectly (Giardiello, 1997). Forty-two percent of pediatricians surveyed in Massa- chusetts indicated feeling “ill prepared” to talk to families about the results of expanded newborn screening (Gennaccaro et al., 2005). To ensure that patients receive up-to-date, timely, and accurate information, it is crucial that anyone who offers or refers patients to genetic services—formally trained or not—has the knowledge and skills necessary to provide quality services.

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 GENETIC SERVICE DELIVERY In addition to defining genetic services and examining who the provid- ers are, it is important to identify who is receiving these services. Unfortu- nately, there is no easy way to collect this information. Health insurance claims data have significant limitations. CPT (Current Procedural Ter- minology, copyrighted by the American Medical Association) codes for cognitive services are the same whether the service provided is a consulta- tion with a medical geneticist or a consultation with any other medical professional. However, it is possible to infer who is receiving services using estimates based on standards of care. For example, nearly all of the 4 mil- lion infants born each year receive newborn screening (March of Dimes, 2007), and most pregnant women are offered certain genetic services such as multiple marker maternal serum screening, which is standard practice in obstetrics. Some areas of the country are collecting data that help identify who receives services. For example, Washington State has compiled service utili- zation data since 1991 from its 15 regional genetic clinics, finding that, on average, there has been an increase of about 8 percent per year in individuals seeking genetic services, most of them adults (Wang and Watts, 2007). Four states—Michigan, Minnesota, Utah, and Oregon—have added questions about genetic services to their Behavioral Risk Factor Surveillance System (BRFSS) survey. However, there remains a severe data gap in the pursuit of a complete picture of the current genetic service delivery system. Another important component of understanding the current system for delivery of genetic services is identifying where these services are provided. The GSPP compiled information from professional organizations such as the American College of Medical Genetics, the International Society of Nurses in Genetics, and the National Society of Genetic Counselors. On the basis of professional status survey results and membership data, GSPP determined both the geographic location and the professional setting of genetic service provision. These data are limited, however, because they include only information about formally credentialed genetics professionals, even though many genetic services are provided by non-geneticists. The vast majority of genetics professionals work in academic medical centers, followed in order of magnitude by public and private hospitals and medical facilities; commercial, diagnostic, and state laboratories; private practice; and the insurance industry. On average in the United States, there are 1 to 1.5 genetics professionals per 100,000 residents. These genetics professionals are concentrated on the West Coast and in the Northeast, a pattern similar to the distribution of all medical doctors per capita. Despite the availability of information about how many genetics pro- fessionals exist, there is another major data gap: no one knows how many genetics professionals are actually needed to ensure access to, and quality of, care. As genetic and genomic technologies advance, and as the public

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS learns more and demands more, it is likely that there will be an increased need for genetics professionals. Yet no information is available to suggest a number or ratio of genetics-trained professionals that would be sufficient to serve the needs of the public. As the GSPP gathered data and attempted to characterize the state of the current genetic service delivery system, several data gaps were identi- fied, some of which have been mentioned. Claims data are severely limited in their usefulness because CPT codes are highly variable and not specific enough to identify when genetic services are being provided. Data are often proprietary, making them unavailable or costly. There are few data that demonstrate consumer demand or utilization of retail genetics, whether these services are marketed directly to consumers or to providers. Data sug- gest low levels of certified genetic service providers nationwide, but there are no data to indicate optimal numbers. Our current health care system is already fairly fragile. As genomic innovation progresses it is likely that further strains will be placed on sys- tems and providers. It will be imperative, therefore, for researchers to fill these data gaps in order to describe, monitor, and evaluate the provision of genetic services now and in the future. CHALLENGES OF DISPARITIES AND ACCESS Alexandra Shields, Ph.D. Harvard/Massachusetts General Hospital Center on Genomics, Vulnerable Populations & Health Disparities Health disparities have recently come under greater scrutiny, thanks in part to two Institute of Medicine reports. In Crossing the Quality Chasm, the alleviation of health care disparities was, for the first time, noted as one of the six aims for quality improvement in the U.S. health care system: “The availability of care and quality of services should be based on individu- als’ particular needs and not on personal characteristics unrelated to the patient’s condition or to the reason for seeking care. In particular, the qual- ity of care should not differ because of such characteristics as gender, race, age, ethnicity, income, education, disability, sexual orientation, or location of residence” (IOM, 2001, p. 53). Unequal Treatment provided exhaustive documentation of racial and ethnic disparities in health care (IOM, 2003b). These disparities were found in a range of health care settings and across disease areas and clinical services, even when controlling for known predic- tors such as insurance status, socioeconomic status, and access to care.

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 GENETIC SERVICE DELIVERY The Harvard/Massachusetts General Hospital (MGH) Center is apply- ing what is known about health disparities in general to the more specific area of genomic health care by engaging in research that examines where health disparities exist along the trajectory from research to health out- comes. For example, at one end of the trajectory, research practices have implications for health disparities and the health of underserved popula- tions, since the use of race constructs in genome research or the conceptu- alization and operationalization of measures of environment can influence our understanding of the effect of these variables on the health of different populations. At the other end of the trajectory, as research is translated into clinical practice, there are disparities in provider knowledge and readiness, health system capacity, consumer willingness to undergo genetic testing, and coverage and financing of health care services. The Harvard/MGH Center also monitors the diffusion and impact of genomic services on health outcomes in disparate populations, looking at issues of access, whether genomics affects diagnosis and prognosis, and how genomics ultimately affects health disparities. Disparities in access to and utilization of genomic technologies do exist (Levy et al., unpublished; Shields et al., 2008; Wideroff et al., 2003). Possible reasons for differential utilization of available genetic tests among demographic groups include but are not limited to • confidence in the efficacy of tests; • provider knowledge, training, and capacity; • practice linkages with specialty care; • patient awareness and willingness to undergo genetic testing; • the low priority of testing for patient populations with high comorbidity loads and complex health issues; • differential coverage, prior approval requirements, and copayments; • racism and discrimination; and • geographic variation. There are various strategies for identifying disparities in utilization and access among different populations, as illustrated by the following discussion. One approach to identifying disparities is to examine data about patient or provider knowledge of genetic testing as a contributing factor to low or differential uptake of genomic medicine. In 2000, the National Health Interview Survey (NHIS), which surveys the U.S. population on issues of health and health care, included a supplement that asked the ques- tion: “Have you ever heard of genetic testing to determine if a person is at greater risk of developing cancer?” (CDC, 2000). The results were striking. After adjusting for age, sex, region of the country, health insurance status, health care utilization, cancer history, and propensity toward preventive

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS health care, there still existed a strong gradient of difference by race and education level. Blacks and Hispanics were less likely than whites to have heard of genetic testing, and as education level increased from less than high school to college graduate, knowledge of genetic testing increased as well (Wideroff et al., 2003). NHIS asked another question in the 2000 supplement: “Have you ever discussed the possibility of getting a genetic test for cancer risk with a doctor or other health professional?” (CDC, 2000). A recent analysis (Levy et al., unpublished) used these NHIS data, in conjunction with the 1999 National Comprehensive Cancer Network guideline criteria, to identify about 35,000 women with no personal history of breast or ovarian cancer and to stratify them into high risk or average risk for hereditary breast or ovarian cancer. Of these, 42 percent of the average-risk women had heard of genetic testing for cancer risk, compared to 55.2 percent of the high-risk group. Only 2.2 percent of the average-risk women had discussed testing with their doctor, and 10.7 percent of high-risk women had discussed it. It is encouraging that higher-risk women are more likely to discuss testing with their physician, but the rates are still quite low in comparison with other kinds of practice guidelines, where compliance rates may be over 50 percent (McGlynn et al., 2003). Another strategy for studying health disparities is to identify high- volume providers, that is, the subset of providers who care for the majority of a certain subpopulation. A survey of primary care physicians was con- ducted in 2002 that, in addition to questions about incorporating genomic medicine into practice, included questions about patient characteristics: What proportion are minority, on Medicaid, uninsured, or have a primary language other than English? The physicians were ranked according to the percentage of their patients with the characteristics of interest, and the top 20 percent of physicians in each category were defined as “high minority,” “high Medicaid,” “high uninsured,” and “high non-English” serving. The physicians were asked whether they had ever ordered a genetic test for breast cancer, colon cancer, sickle cell disease, Huntington’s disease, or any other genetic test. Those physicians who were high minority-serving were less than half as likely to have ever ordered a genetic test for breast cancer, colon cancer, or Huntington’s disease (Shields et al., 2008). These physicians were also asked whether they had ever referred a patient to a genetic counselor, a specialist, a clinical trial, or any other site of care for a genetic test. Again, high minority-serving physicians were half as likely to have referred a patient to a clinical trial or any site of care. Phy- sicians serving a large percentage of Medicaid patients were half as likely to have referred a patient to genetic counselors or any site of care. The other associations studied were not statistically significant, but it is apparent that not all patients have equal access to genetic testing.

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 GENETIC SERVICE DELIVERY Many poor and minority Americans receive their health care from “safety net” sites such as community health centers (CHCs), which are defined as “providers that organize and deliver a significant level of health care and other related services to uninsured, Medicaid, and other vulnerable patients” (IOM, 2000). More than 75 percent of community health center patients are either uninsured or covered by Medicaid (Rosenbaum et al., 2004), which means that the centers themselves often lack the capital to invest in new technologies and infrastructure (Fiscella and Geiger, 2006). A collaboration between the National Association of Community Health Cen- ters and the National Research Center for Health Information Technology, using data collected by the Health Resources and Services Administration, surveyed 627 health centers and found that 4.3 percent of CHCs provided genetic counseling (either by providing it directly or by referring and paying for the service) (Shields, unpublished). The percentage that provided any genetic testing—outside of prenatal—was 11.7 percent, with about 5 per- cent for breast and colorectal cancer and 3 percent for Huntington’s disease. When these data were analyzed to identify characteristics of CHCs that predicted provision of genetic testing, it was found that those centers with the highest specialist-to-patient ratios, those with the most black patients, and those with the most Latino patients were about twice as likely to pro- vide genetic testing as those centers with lower ratios and fewer minority patients. Interestingly, in this case, the main predictor of genetic service provision was size: centers that served more than 10,000 patients were six times more likely to offer services than smaller centers. Examining the areas of reimbursement and the ability to pay for genetic services is another approach to studying disparities in genetic testing among different populations. Clearly, access to and ability to pay for genetic test- ing strongly affect whether one will receive these services. However, there seem to be disparities in the utilization of genetic tests even among persons who have identical insurance that covers testing. The Harvard/MGH Cen- ter recently examined claims data from 2004 to 2008 for about 15 million commercially insured individuals to determine who had undergone genetic testing for cancer. Specific data examined included data on BRCA1 and BRCA2 tests, which are generally considered clinically valuable in the screening, diagnosis, and treatment of breast cancer and are covered by the commercial insurer. Data were also examined regarding the MLH1 and MSH2 genetic test, which has been shown, in conjunction with appropriate surveillance, to result in a significant decrease in colorectal cancer incidence and overall mortality (Jarvinen et al., 2000). Overall, 10.98 percent of this population received the BRCA1 and BRCA2 test, and 1.42 percent received the MLH1/MSH2 test. Utilization varied significantly by race: whites and Hispanics were almost twice as likely to have received the tests. The dif- ference in utilization by household income was striking; a clear gradient

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0 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS showed that the highest-income patients were more than four times as likely to have received the BRCA1 and BRCA2 test than the lowest-income patients. This gradient existed despite the fact that all patients were in the same health plan and had the same coverage. Further research is needed to understand this apparent discrepancy: Is the disparity due to patient knowl- edge or attitudes, provider willingness, or other unknown factors? It is evident from these early data that health care disparities exist throughout the health care system, including in the area of genetics. As genomic medicine progresses, research is essential to assess the effect of genomic medicine on underserved populations. Critical questions for a research agenda include the following: • To what extent do genomic applications improve health outcomes? • Are there important allele frequencies that differ across populations? • Are there disparities in coverage across plans (e.g., Medicaid versus commercial insurance)? • Are there disparities in access to genomic medicine? Are these disparities different or the same as other documented health care disparities? • What is the origin of these disparities—providers, patients, policies, culture, or racism? • How do disparities in access and utilization affect the gap in clini- cal outcomes? • What data infrastructure is needed to answer these questions? The Harvard/MGH Center on Genomics, Vulnerable Populations & Health Disparities is working to help answer these questions, expanding methods for capturing genomic medicine in administrative data, conducting patient surveys, and exploring the idea of using electronic health records to collect data for use in studying health disparities. One of the key measures against which the investment in genomics research should be judged is its ultimate impact on the health of underserved populations. It is essential that researchers use every tool at their disposal to be able to measure, assess, and understand the factors that cause these disparities to persist. PATIENT EDuCATION AND COMMuNICATION Vivian Ota Wang, Ph.D., F.A.C.M.G., C.G.C. Genetic information and genetic services have become increasingly complex, with multiplex testing, predictive risk testing, and clinical util-

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 GENETIC SERVICE DELIVERY ity and validity evidence that is ambiguous and constantly changing. Providers—whether genetic counselors, physicians, nurses, pharmacists, or specialists—are frequently confronted with the issue of how to convey genetic information effectively to their patients. According to Ota Wang, translating genetic information into something that people can comprehend requires understanding four crucial elements of cognitive psychology: how information is categorized, where attention is focused, how information is processed, and what is culturally responsive communication. First, in terms of categorization, when humans absorb new informa- tion, they use five factors to categorize what they are processing: similar- ity, simplification, proximity, continuity, and perception. People generally group things that are most similar together. They simplify information into its easiest form. People group things that are located near each other using the law of proximity. They also tend to follow the law of continuity; that is, they see something as following a smooth, logical path, rather than breaking it up into parts. Finally, objects that are grouped together tend to be perceived as a whole. Second, when looking at a picture, people focus on different parts of it. Some pay attention to the foreground; others see the background. A classic example is the picture in Figure 2-1, in which one can see a vase or two faces, depending on where attention is focused. Third, research in cognitive psychology shows that when people are confronted with a large amount of information, some focus on the details that matter, while others are distracted by the excess information. Some think in cognitively complex ways—they can process large amounts of information that is abstract, ambiguous, and uncertain; others think in cognitively simple ways—they can process only limited amounts of concrete information. Finally, not only do people from different cultures speak different languages, they also communicate in different ways. In languages that are considered “low context,” information is conveyed primarily through direct verbal and written communication (e.g., Danish, German, English). Other languages are “high context.” In these languages the surroundings and the context are far more important than the literal meaning of the words (e.g., Japanese, Chinese, Vietnamese, French, Spanish, Greek). In low-context communication, background information is made explicit, whereas in high- context communication, the full message must be interpreted by the listener through nonverbal cues and indirect references. It is imperative for providers to understand that their patients process information in ways that are different from the provider and different from each other. Information can be grouped and categorized in various ways, it can be presented abstractly or concretely, and it can be tailored to dif- ferent cultural communication systems. Providers often assume that more information is better information, whether it is on a consent form, about a

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS FIGuRE 2-1 Attention focusing: Vase or two faces. SOURCE: Adapted from Ota Wang, 2008. test result, or in a discussion about disease. To help patients fully compre- FIGURE 2-2 R01463 hend complex genetic and genomic information and take an active role in their own health care, it behooves providers to learn from the research on cognitive psychology in order to design communication strategies to meet each patient’s needs. EDuCATIONAL PIPELINE AND WORKFORCE Catherine A. Wicklund, M.S., C.G.C. Northwestern University Many different types of professionals provide genetic services to patients, including genetic counselors, medical geneticists, and genetics nurses. As genetic and genomic technologies are incorporated into main- stream medicine and patients learn about and request these services, it will be essential to have an adequate workforce to meet the demand. Before one can discuss the need for future providers, however, it is necessary to understand the current status of those who provide genetic services: who they are, what they do, how they are trained, how many there are, and the challenges that their professions face.

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 GENETIC SERVICE DELIVERY Genetic Counselors Genetic counselors are health care professionals who work as members of a team to provide information on genetic issues to patients and provid- ers. The following are some of their duties: • identify and introduce the possibility of genetic risk; • determine a patient’s knowledge and motivations; • ascertain personal and family medical histories via targeted pedigrees; • provide risk assessment for patient and family; • educate about condition, inheritance pattern, risk, management, and prevention; • facilitate informed decision making; • obtain informed consent for genetic testing; • counsel to assess psychosocial impact and provide support; • identify resources for patients; and • follow up with the patient, including guidance about informing key relatives. Genetic counselors are trained through a 2-year accredited master’s program that consists of three main elements: (1) coursework in diverse topics such as counseling, molecular biology, genetics, ethics, health care, and research methods; (2) clinical training in a variety of clinical settings such as prenatal, pediatric, cancer, neurogenetic, and cardiovascular; and (3) a research component. The American Board of Genetic Counselors (ABGC) sets the academic standards for institutions and provides accredi- tation to graduate programs in genetic counseling. Since 1993, the number of accredited programs has almost doubled, from 18 to 32. Together, these programs accept about 30 percent of applicants and graduate about 225 students each year. In addition to accreditation, the ABGC certifies genetic counselors, requiring recertification every 10 years through examination or continuing education. Unlike some other health care professionals, genetic counselors are not typically licensed. Seven states have passed licensure bills, but only two—Illinois and Utah—currently have active licensure. There are about 2,500 certified genetic counselors in the United States, which equates to about 1 counselor per 123,000 individuals. Geographi- cally, the counselors are distributed roughly according to population, with the majority on the East Coast, in the Midwest, and on the West Coast. There are several challenges facing the profession of genetic counseling. One is diversity: 91 percent of genetic counselors identify as Caucasian, and most are women under 40 (Parrot and DelVecchio, 2007). Another

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS is the issue of reimbursement; genetic counselors cannot bill insurers for direct reimbursement, which results in limited access to counseling ser- vices, fewer genetic counselors, and lessened integration into the health care system. Two problems—limited funding for graduate programs and a limited number of genetic counselors available to supervise clinical intern- ships—negatively affect the education and preparation of a new generation of genetic counselors. The National Society of Genetic Counselors has developed a strategic plan to address these challenges that includes • pursuit of federal legislation that recognizes genetic counselors as health care providers, • support for states in the effort to license genetic counselors, • development and growth of relationships with third-party payers, • exploration of alternative service delivery models, • monitoring trends in health care to determine how genetic counsel- ing can fit in, • formation of partnerships with other providers to support integra- tion efforts, • working with the ABGC and the Association of Genetic Counseling Program Directors to address workforce issues, and • identification of the needs for continuing education. In addition, the ABGC will begin to offer the genetic counselor board exam annually in an effort to support licensure efforts and increase the availability of clinical training sites. Medical Geneticists A clinical geneticist (also known as an MD geneticist or physician geneticist) “holds a U.S. or Canadian earned or the equivalent of an earned M.D. or D.O. degree, has had 2 years in an ACGME1-accredited clinical residency program in another medical specialty, 2 years in an ACGME- accredited residency in clinical genetics (or 4 years in an accredited clinical genetics residency program), a valid medical license, and demonstrates competence to provide comprehensive genetic diagnostic, management, therapeutic, and counseling services” (ABMG, 2008a). The clinical geneti- cist’s scope of practice is broad, given that genetic issues apply to all organ systems, and the role that clinical geneticists can play varies from condition to condition. The following are some of the clinical geneticist’s key func- tions (ABMG, 2008b): 1 ACGME is the Accreditation Council for Graduate Medical Education.

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 GENETIC SERVICE DELIVERY • diagnose a wide range of genetic disorders; • elicit and interpret individual and family histories; • integrate clinical and genetic information and understand the uses, limitations, interpretation, and significance of specialized labora- tory and clinical procedures; • perform risk assessment; • interview patients or families to gather the information necessary to reach appropriate conclusions; • help families and individuals recognize and cope with their emo- tional and psychological needs; • recognize situations requiring psychiatric referral; • transmit pertinent information in a way that is comprehensible; and • provide appropriate referral or support. The American Board of Medical Genetics (ABMG) is responsible for certifying physicians and accrediting training programs. There are 1,253 ABMG-certified clinical geneticists in the United States, which is about 0.18 percent of physicians (ABMG, 2008c). The 1,100 clinical geneticists who are currently practicing spend about 45 percent of their time seeing patients, which translates to 495 full-time equivalent physicians.2 Extrapo- lating from the work of the Royal College of Physicians (2004), given the size of the U.S. population, the ideal number of full-time equivalent physi- cian geneticists would be 1,200, more than twice the current number. As genomic technologies expand, this shortage will be exacerbated. An illustration of this looming scarcity can be found in the case of metabolic specialists. There are only about 200 metabolic physicians in the United States, of whom 75 percent describe their practices as “nearly full” and 20 percent expect to retire in the next 5 years (Cooksey et al., 2006). At a time when states want to expand their newborn screening panels to include newer tests, some are unable to do so owing to the lack of metabolic geneticists. Clearly there are some challenges in the physician geneticist profession. There is a serious mismatch between the expansion of knowledge and the workforce size. The current workforce is not expected to meet patient care needs in the next 5 to 15 years, and young physicians are not entering the field. The American College of Medical Geneticists hosted two conferences (called the Banbury Conferences), one in 2004 and one in 2006, to discuss these challenges and how the field can position itself for the future. The Banbury Conferences developed principles and recommendations for the profession, including the following (Korf et al., 2005, 2008): 2 J. Benkendorf. Personal communication. July 15, 2008.

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS • Medical geneticists should work with a team of health care professionals. • Medical geneticists should provide leadership in the responsible introduction of new technologies, their integration into medical care, and the monitoring of outcomes. • The medical genetics workforce must be increased to meet current and future needs. • Training and continuing education programs should include sub- stantial exposure to molecular and population genetics, epidemiol- ogy, and bioinformatics. • The pool of trainees entering the field must be increased and broad- ened, and training pathways and the certification process must be aligned with this goal. • Training must be realigned to reflect emphasis on common traits and genetic health care over the lifespan. Genetics Nurses Genetics nurses may perform one or more of the following duties, depending on their specialties: obtain a detailed family history and prepare a pedigree,3 • • assess and analyze disease risk factors, • identify potential genetic conditions or genetic predispositions to disease, • provide genetic information and psychosocial support to individuals and families, • provide nursing care for patients and families at risk for or affected by diseases with a genetic component, • provide genetic counseling, and • facilitate genetic testing and interpret genetic test results and labo- ratory reports. Nurses with a bachelor’s degree from an accredited nursing program can become certified genetics clinical nurses by submitting a portfolio to the Genetic Nursing Credentialing Commission (a subsidiary of the Inter- national Society of Nurses in Genetics [ISONG]) with 5 years of genetic nursing practice, a log of 50 genetics cases, four written case studies, 45 hours of genetic content in academic courses or continuing education, and evidence of patient, family, or client teaching. To become certified as an 3 A pedigree is a diagram of family relationships that uses symbols to represent people and lines to represent genetic relationships.

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 GENETIC SERVICE DELIVERY advanced practice nurse in genetics, one must also have a master’s-level degree in nursing, 300 hours of genetic practicum experience, and 50 hours of genetic content in academic courses or continuing education in the past 5 years. Currently, there are 10 genetics clinical nurses and 28 advanced prac- tice nurses in genetics. However, this number is misleading because many nurses work with genetic information but have chosen not to pursue cer- tification. ISONG, which is open to “any registered nurse who has an interest in genetics,” has 300 members—a number that probably reflects more accurately how many nurses are delivering genetic health services. ISONG has launched an initiative designed to prepare the entire nursing workforce—not just those nurses who specialize in genetics—to deliver competent genetic health care. It has sought to define and implement nurs- ing competencies and curriculum guidelines for genetics and to survey baseline nursing knowledge, attitudes, and competencies in order to address some of the challenges of recruiting, training, and supporting genetically competent nurses. DISCuSSION Wylie Burke, M.D., Ph.D., Moderator One participant asked the panel if any data were available about how many patients actually want genetic testing and are willing and able to receive the results. Sharon Terry reported that the Genetic Alliance surveyed about 6,000 individuals with genetic conditions and found that overall patient satisfaction with information and services provided by physicians or other genetic service providers was low. Patients reported that they obtained better information from websites and support groups than from their providers. Lochner Doyle said that the National Survey of Children with Special Health Care Needs found that 19 percent of those who wanted genetic services were unable to get them, usually owing to interrupted or no health insurance (HHS, 2004). Catherine DesRoches noted that the general public has little knowledge of genetic testing, and the levels of uptake of testing are even lower. She sug- gested that this is due to privacy issues. Shields pointed out that although the data she presented show low uptake of BRCA testing among minority populations, it is unclear whether this is due to patient willingness or inter- est or to differential provider patterns in offering the test.

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 INNOVATIONS IN SERVICE DELIVERY IN THE AGE OF GENOMICS One participant asked the panel about the readiness and willingness of service providers—nurses, counselors, MD geneticists—to step out of the box of genetic disease medicine and toward the future of using genetic information for common diseases in everyday practice. Wicklund responded that genetic counselors were ready and able to move into these newer areas because they are already adept at dealing with issues of ambiguity and risk communication. She noted, however, that there is still a question of how many providers will be needed to fulfill the demand in this new era of genomics. Bruce Korf, of the American College of Medical Genetics, noted that there are two sea changes happening in the field of medical genetics. One is the ability to offer interventions and treatments that were not previously possible. The second is the transition from genetic disease to genetic pre- disposition toward common disorders. The medical geneticist community, despite a perception that its members are interested only in rare disorders, congenital anomalies, and biochemical genetic disorders, has been think- ing hard about how to educate and train current and future practitioners. The ACMG has created a genomic-era curriculum for medical genetics that begins in medical school, continues on through genetics training, and then through continuing education. One participant relayed a story about ordering an item on Amazon.com, emphasizing how easily the website tailors its offerings to her specific pro- file and history. She questioned whether genetic testing would ever reach this level of personalization or whether providers were too reluctant to move away from a one-size-fits-all paradigm. Lochner Doyle said that on the basis of her experience in Washington State, patients were moving ahead with genetic testing, with or without their providers, and the health care community needs to begin thinking about how to move away from the traditional model as these market shifts occur. Shields concurred, adding that providers will have to start pooling resources, developing new referral patterns, and building capacity. She mentioned that half of all primary care physicians in the United States are in solo or partnered practices and argued that a continuing education course in “Genetics 101” on a CD-ROM would not be sufficient to enable these providers to incorporate novel applications into their practice. Wicklund commented that genetic counselors are under- going a culture shift and will have to challenge themselves not to discount something immediately because it is not traditional genetic counseling. She noted that some genetic counselors are upset about the advent of direct-to- consumer marketing, and she remarked that whether counselors approve of this or not, it is a reality, and they will have to adapt in order to meet these challenges. One participant mentioned that the “elephant in the room” is the eco- nomic model behind this shift toward genomic medicine. There is a low

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 GENETIC SERVICE DELIVERY level of reimbursement for genetic testing, and there is a shrinking or static workforce with genetics training programs not filled to capacity. He asked how these advances will be sustainable economically. What will motivate young medical students to enter the field if there is not a realistic profes- sional reimbursement structure in place? Korf said that this question may reveal a fundamental structural problem in the U.S. health care system. If medical students were simply to follow the economics, they would all become cosmetic dermatologists. He argued that to take advantage of the new opportunities that genomics presents, the health care reimbursement system will have to be restructured in order to align incentives with the value of the medical care provided. Money is plentiful in medicine; however, it is not distributed in ways that make sense in terms of prevention and maintenance of health. Finally, one participant inquired about the level of genetic knowl- edge provided for “everyday practitioners” in medical school, osteopathic school, or nursing school. Lochner Doyle reported that the literature shows that not only do practitioners feel ill equipped or uncomfortable in their own delivery of genetic services (Gennaccaro et al., 2005; Giardiello, 1997; Menasha et al., 2000), they also may not have an interest in gaining the necessary knowledge. Rather, they want information “on demand”—they want to be able to call a number or check a website in order to get informa- tion about a specific genetic condition or test result as needed.4 4 D. Lochner Doyle. Personal communication. February 19, 2009.

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