Genomic medicine is much in the news, from direct-to-consumer genetic testing to the use of cell-free DNA for prenatal diagnosis, and as the complexity and clinical implications of the technology increase, so does the importance of producing a well-educated adult public capable of thoughtful use of those interventions. The evolution of genetic medicine itself requires a careful rethinking of our approaches to public education to ensure that its content reflects the actual nature of our understanding of genetics and its relationship to health and disease.

The content of modern genetics education as it relates to health care is still conditioned—and constrained—to some extent by history. As Childs has explained, and as Fig. 1 illustrates, genetics found its way into medicine through the inborn errors of metabolism, whose natural home was pediatrics [1]. That focus on Mendelian disorders set a conceptual approach to the discipline that served it well, but that also impeded appreciation of the relevance of genetics to other areas of medicine. The recent explosion of genomic data and their relevance to the major causes of morbidity and mortality worldwide, however, require the integration of genetics into all medical specialties.

Fig. 1 An overview of the integration of genetics into medicine. The American College of Medical Genetics was founded in 1991 (developed by Childs B, Valle D, McInerney J 2010) Full size image

Because genomics is now finding explanatory power in common, complex disease, we must prepare the public to participate in a health care paradigm that acknowledges the multifaceted interactions of genetic and environmental variables in the onset and expression of disease and in prevention and treatment. For example, the College of American Pathologists recently developed guidelines for the use of pharmacogenetic testing to improve the treatment of certain breast cancers. Herceptin and related drugs that target the human epidermal growth factor receptor 2 (HER2) improve survival in cases of HER2-positive invasive breast cancer, and avoiding its use in HER2-negative patients, for whom those drugs will be ineffective, minimizes adverse events and saves time and money [2]. In another example, patients requiring the blood thinners warfarin or clopidogrel often face complications due to variations in sensitivity to the drugs, which we now know are often related to genetic variation in the CYP2C9 and VKORC1 genes. The American College of Medical Genetics and Genomics has developed recommendations for the use of pharmacogenetic testing for those genes [3], and a number of FDA-cleared tests are being marketed, even though the FDA does not require testing as part of its labeling requirements for those drugs. Wide-scale adoption of genetic tests to improve dosing for many drugs should await the results of large, randomized controlled trials [4], but the trend toward medicine informed by genetics is clear. This new view of genetics requires new approaches to genetics education for the public, approaches that go beyond the traditional concentration on single-gene characters and Mendelian principles.

Adoption of genetic tests in clinical care also will require health insurers to develop coverage and reimbursement policies for these tests. Medicare, being a large-scale health insurance provider, develops standards for coverage and reimbursement that often are adopted by private insurers and state Medicaid programs. Previously, the Medicare billing system focused on general laboratory procedures used to generate test results (e.g., DNA isolation, PCR) rather than a specific genetic test. In 2012, the Centers for Medicare and Medicaid Services (CMS) developed gene-specific codes for approximately 100 genetic tests to be used by Medicare Authorized Contractors (CMS, Recurring Update Notification, Pub. No. 100-04, Transmittal 2365, Change Request 7654, dated 9 December 2011). This new system provides increased transparency in CMS coverage decisions for genetic tests, which will likely influence other insurers. The time needed to gather more evidence, develop decision-support tools, and further integrate genetic testing into insurance and health care systems is time that can be used profitably to ramp up educational efforts.

Reasonable lists of concepts defining genetic/genomic literacy, or, in the case of health professionals, “competencies,” have been developed for numerous audiences, ranging from high school students to undergraduates to physicians and allied health professionals [5•, 6, 7, 8•, 9••, 10, 11•]. Thus, establishing consensus on the important ideas around which educational programs should be developed is not a limiting factor in educating the public or health provider community. Notwithstanding that any list of essential content in a rapidly developing field is necessarily a moving target that will require periodic revision, the greater problem is that even well-established and long-standing genetic principles have not been assimilated into general public knowledge or integrated into medical training and practice. In this article, we will review some of the major deficits in understandings and the reasons that these gaps persist.