GENETICS AND GENOMICS EDUCATION: THE PATH FROM HELIX TO HEALTH
It has become cliché to note the rapid pace of discovery in the biomedical sciences. This is nowhere more evident than in human and medical genetics, now expanded to include genomics. The sheer volume of information that is published in the literature each year continues to expand rapidly. This trend is accelerating due to a surge in the number of journals that are open-access, only online, marginally peer-reviewed, or a combination thereof. The purpose of this chapter is to review some of the problems associated with the explosion of information and knowledge (not the same!) and measures that are being and could be taken to address them. Finding a specific nugget of information, the old needle-in-a-haystack problem in continually enlarging haystacks, is facilitated by the worldwide web and by better search engines. However, health professionals find themselves overwhelmed with information, and scant time to turn information into knowledge, if only for the moment they encounter a patient. The result is frequent failures of appropriate diagnosis, management, and counseling.
The education of health professionals about genetics and genomics is gradually improving, but whether the pace is sufficient to keep up with knowledge and application is open to question. Given all the enthusiasm for “personalized medicine,” it is incumbent on the medical community to become facile with genomics. However, the responsibility to become educated and to stay updated should not fall to physicians and other health professionals alone. There are many stakeholders, and the most important of these are identified in Table 16.1.
Table 16.1 INDIVIDUALS WHO SHOULD BECOME EDUCATED ABOUT MEDICAL GENETICS
Education can and should occur at many levels, beginning in primary and secondary education. Sensitizing young people to the excitement and potential of human genetics and its application to their own lives and the lives of their relatives serves two purposes. First, they will be better prepared when later faced with situations pertinent to their own health, especially prevention. Second, more young people will be stimulated to pursue a career in the health sciences that involve genetics and genomics. To accomplish this requires resources, enlightened educational administrators, and most important, well- prepared teachers. However, few studies address the effectiveness of current and innovative approaches to education.
In 2011, the Secretary’s Advisory Committee on Genetics, Health and Society, which reported to the U.S. Secretary of Health and Human Services, conducted a detailed study of genetics education and training. The final document addressed the needs of health professionals, patients, and consumers and proposed further work in a number of areas, including improved communication strategies, diversity in the workforce, and use of family history tools.
EDUCATING THE GENERAL PUBLIC
Dating at least from the mid–twentieth century, geneticists recognized that the presentation of their discipline in primary and secondary (K–12) education was deficient. In large part, this was the fault of inadequate textbooks[2–4]. The teaching of biology, while highly prevalent—even more than chemistry and physics, suffered from a focus on facts rather than concepts and a lack of discussion of the personal and societal relevance of topics. Often the launch of Sputnik on October 4, 1957, is identified as the stimulus for a heightened emphasis in the United States on education in science and mathematics. The National Defense Education Act of 1958 provided funding to develop modern textbooks. One response that same year was a grant from the National Science Foundation (NSF) to establish the Biological Sciences Curriculum Study (BSCS; www.bscs.org). The initial BSCS efforts were controversial for their focus on concepts and investigation (not “what to think,” but “how to think”), but the fact that the program persists to this day is a testimony to its many successes. More than three decades ago, a survey in Canada indicated that high school students had a strong preference for learning more about genetics, including genetic screening. However, deficiencies in the education of our youth are not limited to biology and genetics.
Students in the United States continue to fall behind their peers in other developed nations in the quality and the quantity of STEM (science, technology, engineering and mathematics) subjects from primary through secondary school. One result is that fewer American youth major in these subjects when they do have an opportunity to pursue higher education. Another result is that they are less likely to be interested in or understand reports of new scientific advances that appear in all of the various popular media. A number of organizations are working to improve STEM learning, especially the American Association for the Advancement of Science (AAAS) and the National Science Foundation (NSF)[6–8]. The federal Department of Education also identifies improving STEM learning as a priority. Too few states and localities, which are the true arbiters of curricula, have prioritized STEM subjects.
With regard to genetics and genomics, a 2011 survey by the American Society of Human Genetics (ASHG) found that few states have standards for core concepts in basic genetics. Of the 19 core concepts assessed, 85% of states were judged to have inadequate standards.
The U.S. Department of Health and Human Services identified public education in genetics as one of a number of critical areas that need to be reviewed and addressed as the healthcare system prepares for genomic medicine and direct-to-consumer genetic testing. For example, when patients were surveyed in 2007, most reported receiving no genetic information from their health care provider about a condition that was known to be familial. In response, the National Human Genome Research Institute (NHGRI) established an Education and Community Involvement Branch that hosts a website with a rich variety of information for the public (http://www.genome.gov/Education) and also provides a compendium of information from other sources. A recent initiative is GeneEd, designed for high school students, teachers, and the general public.
Notable recent initiatives include “DNA Day” on April 25 (in honor of the anniversary of the publication of Watson and Crick’s seminal paper on the double helix) sponsored by the NHGRI and the ASHG. One component is a national competition among high school students to select the most outstanding essays submitted on a topic that varies each year. Additionally, the ASHG sponsors a one-day workshop for high school science teachers and students immediately preceding their annual national meeting. Colleges and universities may partner with local community schools to enhance teaching and learning in STEM. For example, Johns Hopkins, supported by an NSF grant, has developed the STEM Achievement in Baltimore Elementary Schools, which initially will benefit 1,600 students in grades three through five in nine elementary schools. A project at Harvard, the Personal Genetics Education Project (pged.org) has focused on high school students and teachers through workshops and curriculum development.
Planned for 2013 is a major exhibition at the Smithsonian Institution in Washington developed in collaboration with the NHGRI. The project is funded by the National Institutes of Health (NIH) Foundation (non- governmental funds), the Smithsonian, and private sources. After a stay of a year in Washington, the exhibit will travel internationally.
Providers of genetic services, mainly commercial ones thus far, have also developed educational materials for the general public. While typically slanted toward use of the specific genetic and genomic testing being offered, the material is nonetheless typically sound and approachable. Some companies also provide mechanisms for potential customers to pose questions and to have them answered. Thus far these companies reach only a small segment of the population. For example, several groups have shown that people who avail themselves of personal genetic and genomic testing through direct-to-consumer portals, even if the services are free, are typically highly educated whites and Asians from upper socioeconomic strata.
There should be ways to capitalize on the growing interest in tracing ancestry. While some people will be primarily interested in genealogy, more need to be encouraged to record their family histories for medical reasons. A variety of web-based tools is now available, including some that can be transmitted in electronic or hard-copy formats to personal health care providers. November, because the American Thanksgiving is traditionally a time for family gatherings, has been declared Family Health History Month. The NHGRI, the U.S. Surgeon General, and the Centers for Disease Control and Prevention all support family history tools for the general public.
EDUCATING NON–HEALTH PROFESSIONALS
A number of goals might inform who receives focused attention in genetics and genomics education, and how they do. Preparing those who educate others should generate little controversy as a major goal, so teachers at all levels of primary, secondary, and post-secondary schooling should be targeted.
Others who deserve special attention are politicians and other involved in formulating federal, state, and local policies dealing with the provision and financing of medical care and public health. This is important, since well- informed politicians and their staff members are more likely to maintain and enhance support for basic, translational, and clinical research in genetics and genomics. The AAAS Science and Technology Policy Fellows has been a major effort since 1973. Through 2012, 2,616 scientists and engineers have served as Fellows.
Administrators of federal, state, and private health insurance who are sensitized to the relevance of genetics and genomics in health care are more likely to establish and prioritize reimbursement for medical genetic services.
It will be interesting to follow how provision of genetic services evolves under the Affordable Care Act through health exchanges and accountable care organizations, but improved knowledge about genetics and genomics can only assist the cause.
EDUCATING HEALTH PROFESSIONALS
Medical School Curricula
The amount of information that has accumulated in the past decade exceeds the sum total of information available in all preceding human history. This is especially pertinent in medical education, and genetics and genomics as a combined discipline certainly is at the head of the pack in this regard. In terms of education in medical school, the demands on both curriculum planners and students are daunting. New information must be relayed in the confines of a fixed number of hours in the four-year course of study. A recent study found that the average medical student is assigned so much material outside of classroom hours, that 28 to 41 hours per week would be required to complete the readings only once. If there is any good news, it is that far less material needs to be memorized since the digital age renders details readily, even instantly, available. However, having information, or access to it, is not the same as having knowledge.
Given that human and medical genetics are relative newcomers to the traditional curriculum, the efforts to expand course hours have met with mixed success. And even when time is available, inefficiencies arise. Some members of genetics faculties still delight in teaching how technologies work. Twenty years ago, many of us taught the intricacies of restriction enzymes and Southern blots, only to see them largely disappear from use. This experience should inspire caution about what is taught about next-generation sequencing and cytogenomic arrays today. The vast majority of health professionals need to understand when to order a test and what to do with the results, not what is done in the laboratory or the steps taken to produce the clinical report. Often the fundamentals of probability and statistics are more relevant than the methods used to produce a result. Genome-wide association studies (GWAS) are a good example. Understanding risk (relative and absolute), clinical validity and clinical utility, and ethnicity are fundamental to interpreting any GWAS result, yet physicians are notably deficient in these skills. As Feero and Green emphasized, “ensuring that high-quality software tools are available to clinicians will be more important than forcing them to understand the intricacies of how those tools work”.
Medical schools regularly revise their curricula substantially. There is no consistent pattern or rationale to these revisions. Given the century-old conflicts produced, it might seem ironic that serious discussions are occurring about reducing the length of undergraduate medical education to three years. From the perspective of this chapter, one example bears mentioning. Beginning with a strategic planning initiative in 2002, the Johns Hopkins School of Medicine posed the question, “How will medicine be practiced in 10 years?” Once the decision was made that comprehensive curricular reform was necessary, the process was informed by the six-step approach recently defined. The underlying theme was “genetic, environmental, and societal influences are subject to variation. These variations lead to the enormous heterogeneity of health phenotypes.” The choice of genetics as a focus was heavily influenced by the writings of one of the founders of the field of medical genetics and a senior pediatrician at Hopkins, Barton Childs. The new Hopkins curriculum, entitled “Genes to Society,” was introduced in the fall of 2009. What is different? First, there is a focus on individuality, based on examples. Second, evolution plays a central role. Third, there is a heightened appreciation of the complexity and importance of the relationships among health, risk, prevention, disease, and therapy. There is analogy with the “P4 medicine” concept of Leroy Hood and colleagues: predictive, preventive, personalized, and participatory. A structural nuance is the intersession in between clinical clerkships, which is led by basic scientists and clinicians and updates and integrates basic science into the expanding clinical experiences of the students. Even before this new curriculum can be evaluated, it is being exported to Malaysia, where Hopkins is building a new medical school from scratch in Kuala Lumpur, and the curriculum will be based on Genes to Society.
Licensure of physicians in the United States is controlled by the medical board in each state, and each such board requires that the candidate pass a three-part U.S. Medical Licensing Examination (USMLE®) administered jointly by the Federation of State Medical Boards (www.fsmb.org) and the
National Board of Medical Examiners (NBME; www.nbme.org). Since the first two parts of the USMLE are taken by medical students, the content of the examinations and students’ performance influence in important ways the curriculum of each medical (and osteopathic) school. The Association of Professors of Human and Medical Genetics (APHMG; www.aphmg.org) is the professional organization representing the genetics leadership of medical and graduate schools in the United States and Canada. From the mid-1990s, every few years for more than a decade, the APHMG collaborated with the NBME to assess the genetics content assessed on the USMLE. Over this period of time, both the quantity and quality of material covered on the examination improved. While further assessment and improvement are clearly warranted, the overall infusion of genetics into medical school curricula has improved markedly from the 1970s, when Barton Childs observed that the likelihood of a medical school’s having a course, division, or department of genetics was inversely proportional to its having a department of community or family medicine.
A number of schools in the United States (Tufts, Stanford, Vanderbilt, Penn) have utilized direct-to-consumer genotyping of willing students to introduce topics such as risk (absolute and relative), genetic variation, genetic factors in common disease, and ethical, legal, and economic issues[34,35].
Non-Genetics Residency Training
After medical school, the curricula of residency training programs in primary specialties are largely specified by the various organizations that accredit training programs (residency review committees; RRC) and certify specialists (e.g., the American Board of Pediatrics). Here the requirements for formal or practical introduction to genetics and genomics are decidedly mixed. Pediatrics, family medicine, and obstetrics-gynecology have long been at the forefront, while internal medicine, among many, has lagged.
Graduate medical education (GME), the training of physicians between medical school and independent practice, has been criticized in the United States for not adequately preparing physicians for their future practices and for not being sufficiently responsive to the needs of society. A recent report of the Josiah Macy Foundation report entitled “Ensuring an Effective Physician Workforce for the United States: Recommendations for Reforming Graduate Medical Education to Meet the Needs of the Public” is sure to exert wide influence:
Advances in medical diagnostics, therapeutics, and information technology can significantly improve health outcomes. However, we have fallen short in consistently using technology optimally to improve the quality and efficiency of health care. We need to train the next generation of physicians to optimally use medical and information technology, to follow the principles of quality improvement and patient safety, and to practice medicine based on the best evidence.
One major recommendation states, “The content of training should expand to include topics essential for current and future practice, particularly those related to professionalism, population medicine, and working effectively in the health care system.” However, nowhere in the entire document do the words “genetics” or “genomics” appear. To give them the benefit of the doubt, perhaps the absence of proven clinical utility for many emerging genetic technologies led to the Foundation’s failure to mention genetics.
The Physician Workforce
Education of physicians after residency, known as postgraduate medical education or continuing medical education (CME), lasts the entire professional lifespan. The practitioner needs to be updated about familiar topics and introduced to new concepts and applications. Due to licensing and maintenance of certification requirements, new technologies, and decreased funding by industry, approaches to CME are in rapid evolution. A number of studies have documented the obvious: that the practicing physicians who know the most about genetics are those who most recently graduated from medical school. Thus, the challenge of CME is to bring older physicians up to speed while at the same time keeping all informed about new developments. This is an issue throughout the world, and has been documented in the United States and Europe (reviewed in reference 39).
In the United States, family physicians have taken the lead in assessing the needs and providing material through a program called Genetics in Primary Care. More recently, the American Academy of Pediatrics established the Genetics in Primary Care Institute, with the support of the federal Health
Resources and Service Administration Maternal and Child Health Bureau. One recurring theme is that physicians still believe that genetics is peripheral to their everyday practices. Hence, education needs to be placed in a clinical context[39,42–44]. Some specialty societies have established policy statements about specific genetic issues, such as carrier screening and genetic testing for cancer susceptibility.
Some practicing physicians are aware of clinical testing based on genetics and genomics, either through their personal use or results that their patients bring to them[47,48]. Many primary care physicians recognize that to stay current in their abilities they need to learn more genetics. Personal genomic testing, such as is available to consumers through a number of companies, has been used as a teaching tool at one major academic health center.
EDUCATING MEDICAL GENETICISTS
The American Board of Medical Specialties (www.abms.org/) oversees the certification of physicians in 24 primary specialties and 121 subspecialties. Medical genetics is a primary specialty, and the last officially so designated, in 1991. The certifying body for the specialty is the American Board of Medical Genetics (www.abmg.org), which judges whether an applicant is eligible to sit for the board examination and also administers the examination in clinical genetics and in a number of subspecialties (cytogenetics, biochemical genetics, clinical molecular genetics).
There are multiple paths for education in clinical genetics. A handful of programs accept students right out of medical school and provide four years of training in pediatrics, internal medicine, and medical genetics. At the conclusion, the resident is eligible to take the ABMG examination in clinical genetics. The majority of programs, some 51 in number, accept residents after they have completed at least two years of residency in another primary specialty. Two additional years are required for board-eligibility in clinical genetics, although many programs encourage a third year of research. Alternatively, a medical student can apply to a combined residency that involves five years of training in clinical genetics and either pediatrics (16 accredited programs) or internal medicine (6 programs). A separate combined track exists for obstetricians training in maternal-fetal medicine and medical genetics (6 programs).
The Residency Review Committee for Medical Genetics, which accredits training programs, currently has approved programs that provide about 90 slots for first-year residents. On average, 50–60% of these slots fill, so there is considerable unused training capacity for physician clinical geneticists. There was a broad consensus that too few medical geneticists were being trained, even before the emergence of genomic medicine, but few studies have examined workforce issues. Currently 1,419 individuals in the United States are certified as clinical geneticists. Since most work in academic medical centers, most are engaged in teaching, research, and administrative activities, so the number of full-time clinical equivalents available is unknown. In an effort to increase the medical genetics workforce, during its annual meeting the American College of Medical Genetics and Genomics (ACMG) sponsors a career day for undergraduate, graduate, and medical students.
In keeping with the requirements for all specialties, the APHMG and the ACMG have developed competencies for medical geneticists, and these have been incorporated into the programs at each accredited medical genetics residency. More recently, a task force of medical geneticists has been working with the ACGME to develop “milestones” to assess a resident’s progress through training. Additionally, the ABMG established maintenance- of-certification program more than a decade ago. All clinical geneticists with time-limited certificates must maintain certification through self-study and examination every ten years. The professional society for medical geneticists, the ACMG, provides continuing education at its annual meeting and at a biennial board review course.
HEALTH PROFESSIONALS OTHER THAN PHYSICIANS
Included in this broad group are dentists, physician assistants, nurse practitioners, advanced-practice nurses, midwives, physical and occupational therapists, and so on. There is little debate now about the relevance of genetics and genomics in the curricula that educate these individuals, and many groups have recommended competency objectives[56–59].
The National Coalition for Health Professional Education in Genetics (NCHPEG; www.nchpeg.org) describes itself as an “organization of organizations,” the latter now numbering over 80. The AMA, American Nurses Association, and the NHGRI established NCHPEG in 1996 with several goals relevant to genetics education:
Integrate genetics content into the knowledge base of health professionals and students of the health professions;
Develop educational tools and information resources to facilitate the integration of genetics into health professional practice; and, Strengthen and expand the Coalition’s interdisciplinary community of organizations and individuals committed to coordinated national genetics education for health professionals.
NCHPEG is now partnered with the Jackson Laboratory.
Non-Physician Medical Geneticists
In addition to the Ph.D.-level medical genetics laboratory specialist, another vital component of the workforce is the genetic counselor, and to a lesser extent numerically, the genetics nurse. Genetic counselors train in two-year master’s-level graduate programs accredited by the American Board of Genetic Counseling (ABGC; www.abgc.net). There are 31 such programs in the United States and three in Canada. The ABGC also provides certification for counselors through an examination. A growing number of states license genetic counselors. Their professional organization, the National Society of Genetic Counselors (NSGC), conducts an annual meeting and arranges credit for continuing education.
There are currently over 2,400 certified genetic counselors in the United States. Graduate training programs are routinely filled. There is a broad consensus that the number of genetic counselors is markedly inadequate to serve the needs of genetic—let alone genomic—medicine. One important impediment is the ability of counselors to generate clinical revenue independent of a physician.
Nurses have also considered what the baseline competencies in genetics and genomics should be in their curricula.
NUANCES CONCERNING EDUCATION ABOUT GENETICS AND GENOMICS
Having reviewed in a somewhat hierarchical format those in need of enhanced education, let us now examine the nuances of the genomic era that affect education (Table 16.2).
Table 16.2 FACTORS THAT IMPACT EDUCATION IN GENETICS AND GENOMICS
|EXPLOSION OF INFORMATION|
|Rapid evolution of technologies (family history remains an underutilized, inexpensive test)
Direct-to-consumer genetic testing
|Clinical studies or the lack thereof (meta-analyses, decision analysis, “crowd sourcing”)|
The explosion in information has already been noted above. Utilizing this information clinically is one of the most active areas of translational research. The technologies available for studying the genome continue to evolve. We must hold genetic technologies to the same rigorous standards applied to all medical innovations. Moreover, the focus cannot be just on the nucleotide sequence, even if deletions, duplications, and copy number variants are included. Epigenetic modifications are increasingly recognized as important trans-generational effects that are strongly influenced by the environment. As many have emphasized, genetic (and epigenetic) variations do not operated in a vacuum. A systems approach to understanding—and education—is required[30,32,62]. Academic departments and programs in systems biology and its cousin disciplines are still relatively novel, and as a result, this approach to integrating knowledge and teaching it has not permeated curricula at many institutions.
Feero and Green identified a number of impediments to physicans’ learning new information and applying it to their practices:
MDs are practical; most genomic advances have been relevant to only a few clinical situations;
New ideas, even well-tested ones, get neglected unless they are relatively easy to understand;
Few recommendations for the use of genomic information have evidence- based support (either because they apply to rare diseases, or because research about their application to common disease is lacking), so few practice guidelines adopt them;
There are lots of other educational reforms and demands. Genomics needs to be integrated, but this is difficult without wholesale alteration of curricula (see above); and All of this has been done in the context of the “push model”; what we need is a “pull model.”
This will require support for research that documents the clinical utility of genetic technologies. Evidence for cost-effectiveness/benefit would also help stimulate interest in education. The Centers for Disease Control and Prevention (CDC) Office of Public Health Genomics launched the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) program in 2004. Most of the analyses performed thus far found a lack of firm evidentiary basis for clinical applications of genetic tests that assess risk of common diseases or affect drug choice or dosing. As important as this activity could be for health professionals, insurers, and policymakers, EGAPP is under-resourced and potentially overwhelmed. Given that EGAPP and others have identified a lack of rigorous research on clinical utility of genomics, and that the NHGRI strategic plan clearly prioritizes establishing major clinical applications in the next decade, it is ironic that little funding exists for the requisite research. Ultimately research on the clinical utility of genomics, coupled with due attention to ethical, economic, legal, and social implications, will determine both the approach to, and the success of, educational efforts for all stakeholders.
This brief review of education in genetics and genomics has, in the interests of conserving space, been highly selective and focused primarily on efforts in the United States. I apologize to those whose work I have not cited or important projects occurring in other parts of the world.
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