Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Over the last 20 years, substantial financial and human resources have been committed to the education of nongenetic health professionals in medical genetics and genomics. Talwar and colleagues provide a comprehensive review of 44 peer-reviewed studies that report outcomes of the participants’ genetics and genomics practice with patients.¹ Their work critically summarizes the measureable outcomes of these broad educational efforts to many different sectors of nongenetics health professionals, including specialists and those in primary care. This systematic review is an excellent resource for those who continue to design and implement educational platforms for genetics and genomics education to nongenetics providers. Our commentary explores the effectiveness of these educational programs, provides data regarding the genetic professional workforce, and proposes an alternative model for future educational strategies.

Despite the fairly impressive number of studies, the actual number of learners in these educational programs is dwarfed by the number of nongenetic health-care professionals in practice. The number of “students” in each program ranged from 10 to 710, although ~60% had fewer than 100 participants. By our estimates, this is fewer than 5,000 nongenetic health professionals over 16 years (1990–2016). Few data are available on the age, ethnicity, or experience of the participants; thus the influence of these variables on the success of the programs cannot be accessed. Importantly, change in clinical practice was examined in only ~30% of the studies, and often by self-report of the participants.

While all health professionals need knowledge of basic medical genetics and genomics issues, many questions remain. Do nongeneticists need to demonstrate competency in delivery of genetic services or simply recognize whom and when to refer to genetic specialists? Do they need to understand how to manage patients affected with genetic disorders or common diseases with a genetic influence, or will these patients be cared for in specialty clinics?² Most importantly, are there measures as to potential harm to patients when individuals who are not specially certified in medical genetics and genomics provide these services?

The premise of most of these educational programs is to ultimately increase the availability of care; however, there is a dearth of information regarding the cost of these programs and the competency level of those who complete them. Nowhere do these articles review the costs of the educational programs. Such costs include those associated with development and implementation (equipment, travel, materials, time away from clinical practice), in-kind contributions, and costs to evaluate the success of the programs. The only mention of costs in this review was the description of participant incentives provided in about half of the studies in the form of salaries, coupons for coffee, book vouchers, monetary compensation, training certificates, and continuing education units. Furthermore, these studies have not demonstrated changes in providing quality medical genetics and genomics service to patients. This is not surprising given the dependency on questionnaires and analysis of pre- and posteducational intervention measures of knowledge/attitudes, and the lack of longitudinal studies to assess the caliber of the participants’ practice.

Given the lack of outcomes measured with regard to competency and risk of harm, we propose that the focus of any future educational efforts should be to maximize the utilization of the workforce of genetic counselors, medical geneticists and advanced practice genetic nurses who must demonstrate continued knowledge, competency, and proficiency in this practice. If increasing access to a health-care workforce in medical genetics and genomics is a priority, then it follows that financial support to enhance education of professionals already invested in genetics and genomic practice should be prioritized.

One of the factors contributing to the focus of genetics education for health-care providers is a shortage of genetic counselors, clinical geneticists, and laboratory geneticists. A study from the United Kingdom in 2004 estimated the number of full-time equivalent clinical geneticists needed as 1 per 250,000 in the population.³ The American College of Medical Genetics and Genomics (ACMG) estimates that the United States has 1 full-time equivalent per 600,000 people (ACMG, personal communication), 2.5 times lower than the estimated need. Supporting evidence of this shortage are the extremely long wait times for a new appointment with a medical geneticist, up to a year or longer at some institutions (personal communication).

The data regarding the certified genetic counselor (CGC) workforce is equally compelling. In 2016 there were 1,079 unique applicants to 36 genetic counseling training programs in the United States and Canada, and 318 students matriculated (Association of Genetic Counseling Program Directors, personal communication). We are aware of one program that receives federal funding for training (the Johns Hopkins University/ National Human Genome Research Institute Genetic Counseling Training Program; https://www.genome.gov/gctp). Currently there are 37 accredited graduate programs in the United States and four in Canada with approximately 592 trainees in 2015–2016 (http://gceducation.org; https://agcpd.org, https://agcpd.org). A recent workforce study noted a near-zero unemployment rate for CGCs and a 20% annual growth rate in job postings for CGCs between 2013 and 2016.⁴ The current estimated need for CGCs was 1 full-time equivalent per 75,000 people.

Currently there are 46 Accreditation Council for Graduate Medical Education–accredited, residency training programs in medical genetics and genomics in the United States; some of these programs also offer approved combined training programs (medical genetics and genomics and pediatrics (16), internal medicine (5), maternal fetal medicine (10), and reproductive endocrinology and infertility (2); https://www.acgme.org/). On average, over the past 5 years, 37 of the categorical programs offered a residency position and there were 30 applicants for 52 positions. There has been no significant increase in the number of positions or applications over this time frame. Between 2013 and 2016 on average, 16 combined training programs (pediatrics/medical genetics and internal medicine/medical genetics) had 33 applications for 15 positions with the number of applicants increasing from 26 in 2013 to 44 in 2016 (https://www.nrmp.org). Between 2013 and 2016 there were approximately 38 trainees per year entering into medical genetics training programs. American Board of Medical Genetics and Genomics (ABMGG) data show the total number of MD medical genetics and genomics trainees in all clinical training programs averaged from 2014 to 2017 is 134 per year (with some small growth from 129 in 2014–2015 to 139 this current year) (ABMGG, personal communication). This limited number of trainees each year is not meeting the clinical demand as evidenced by the number of jobs available and the number of years it takes to recruit a clinical geneticist (ACMG, personal communication).

With respect to clinical laboratory genetics training programs, as of 1 December 2016 there were 44 ABMGG-accredited programs offering fellowship training in some or all of the laboratory specialties (cytogenetics and genomics, molecular genetics and genomics, and clinical biochemical genetics) with a total of 180 trainees (https://www.abmgg.org). Program directors indicate that they receive, on average, 20 applicants per position in cytogenetics and genomics and 67 applicants per position in molecular genetics and genomics (Association of Professors of Human and Medical Genetics, personal communication). Approximately 56% of programs indicate they could train more individuals if funding were available. In 2016, 75% of the funding sources were from institutional funds or profits from the laboratory.⁵

Why is there so little national focus on and commitment to resources to address this critical workforce issue? Certified genetic professionals are the proficient workforce that can increase access to competent genetic services and thus place less burden on nongenetics health professionals who struggle to provide genetics and genomics services when they are often uncomfortable with their knowledge and skills.

Education in medical genetics and genomics should begin in middle school so that we have a population that understands its implications on health and society. Recruitment for specialties in genetic counseling, medical genetics and genomics (physicians and laboratorians), and genetic nursing should begin at the undergraduate level so that the pipeline of interested and qualified genetics professionals continues. Excitement about the pathways to medical genetics specialties should be fostered at the entry to medical school. The Association of American Medical Colleges 2014–2016 survey showed that only 0.2% of second-year medical students consider future training in medical genetics and genomics (https://www.aamc.org).

In the end, the single best way to assure that nongenetic specialists are educated about genetics and genomics is to make it relevant to the care of their patients. We may preach with enthusiasm about the flurry of advances in our field, but we will never reach the mainstream practice of medicine until we consistently demonstrate that we have something to offer patients. Until medical genetics and genomics is found to be clearly and practically useful in general medical practice or in particular subspecialties, we are fighting an ultimately losing battle.

We already have successful systems for rigorous, accredited training in medical genetics and genomics that assure competency of these professionals both at entry into the workforce, and also continued competency to maintain certification. This is essential to assure a qualified workforce in this rapidly advancing medical field. Substantial resources should be allocated to educating and growing the workforce of certified genetics health professionals.^{4, 6}