Integrating Genetics Into Primary Care: Family History Is Key

Lorie M. Vandenbusche, RN, MSN, FNP

Disclosures

Topics in Advanced Practice Nursing eJournal 

In This Article

The Promise of Genetics and Genomics

The sequencing of the human genome was completed in April, 2003. This enormous scientific achievement gave us the ability to read, for the first time, the entire genetic blueprint for a human being. Much is anticipated as a result of unraveling the human genome and the ongoing advances in genetics and genomics. Genetics, once a field of rare and single gene disorders such as cystic fibrosis and sickle cell anemia, now comprises common conditions across the lifespan.

Genomics, the study of genes and their functions, increases our understanding of the interaction of multiple genes with each other and the environment in complex diseases such as heart disease, diabetes, and cancer. As more genes that confer susceptibility to common complex diseases are identified, the implications for health management are clear. Unveiling the full potential and clinically relevant applications of the human genome will take decades.[1]

Scientists hope that insights into disease processes made possible by genetic research will form the backbone of personalized healthcare – individualized care in which genetic susceptibility is used to tailor disease prevention. Although individualized healthcare is still largely in the future, an early example of this paradigm is the identification of breast cancer gene mutations to prevent breast cancer.[2]

Our healthcare system is shifting from one that reacts to illness to one that prevents illness and discards the "one size fits all" approach. With advances in our understanding of the genetic basis for disease comes public awareness and interest in what these advances have to offer. Public awareness of genetic and genomic information brings the necessity to effectively and responsibly integrate genetics into primary care. Family members share not only genes; but may also share environments, lifestyles, and habits and consequently, they may share risk for disease.

Geneticists have long recognized that the gateway to discovering genetic inheritance and disease susceptibility is a thorough recording of family medical history.[3] This article will offer measures to help primary care providers effectively integrate genetics into their practices: eliciting a family history, identifying genetic red flags, and stratifying personal risk based on risk factors.

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