Key Points

• Discoveries related to common conditions such as diabetes, heart disease, and cancer are rapidly changing the role of genetics in health care.

• Primary care providers should know the limits of their own knowledge in genetics and should become familiar with supportive resources and seek out expert consult when in doubt.

We stand at a remarkable time in history regarding our understanding of how variations in the human genome contribute to health and disease. At least some of this progress can be attributed to the technologies developed to complete the Human Genome Project. The tools of genomics and molecular biology have begun to unlock the fundamental underpinnings of previously enigmatic conditions, shedding light on the fundamental nature of the human species.

The most exciting developments since 2005 are related to the genetics of common disease, a mainstay of primary care medicine. For the first time, geneticists have been able to use a very powerful technique known as genome-wide association study (GWAS) to identify human genome variations associated with common disease risk. Hundreds of risk markers known as single nucleotide polymorphisms (SNPs) have been reliably associated with the presence of a long list of common conditions. Although each individual marker confers only a small risk of disease (which greatly limits their use in the clinic to predict risk in individual patients), each has helped to better define disease pathogenesis (Kraft and Hunter, 2009; Manolio et al., 2008). With the advent of low-cost whole-genome sequencing, discoveries related to disease risk, prognosis, and treatment relevant to primary care should accelerate (Feero et al., 2010). Most chapters in a family medicine textbook will eventually include the relevant information to the specific topic derived from genetics and genomics.

We are at an early stage in the discovery process, and our embryonic understanding of the human genome is not easily yielding improvements in clinical care. This perspective is often lost in the media hype and attention given to the latest genetic discovery. The lack of a rapid translation from a new discovery to a proven clinical application (e.g., genetic test, targeted therapy) frustrates clinicians and patients alike and can lead to unrealistic and potentially harmful expectations. Clinicians should recognize where the application of knowledge from genetic discovery is of proven benefit, and where it is not. Perhaps most importantly, physicians should recognize that a substantial and rapidly expanding number of genomic applications fall into a gray area of unexplored benefit. It is incumbent on providers to seek additional information from a reputable source when in doubt.

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