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INTRODUCTION

In the current era of precision and molecular medicine, it is becoming increasingly important that family medicine providers become familiar with genetics and genomics. There is no longer a field of medicine that has not been impacted by the understanding and advancements in genetics following the sequencing of the human genome. In addition, advances in computational modeling and data analysis have inspired national and international initiatives to better understand the role of genomics coupled with environmental influences to better understand and predict health on the individual level as well as enhance treatment of disease. Precision medicine will allow for the integration of unprecedented amounts of data regarding genetics, family history, environmental exposures, nutrition, and many more “omes” (eg, exposome, genome, microbiome) to complement patient care.

Historically, the field of medical genetics was predominantly practiced as a subspecialty. Medical geneticists diagnosed and cared for individuals with genetic disorders resulting from classic single-gene disorders, chromosome abnormalities, and metabolic diseases. Over the past decade, medical geneticists and genetic counselors have expanded into prenatal care for the identification of at-risk parents and counseling regarding reproductive decision making, as well as oncology, as the identification of genetic cancer-susceptibility testing has become readily available. Recent approval by the US Food and Drug Administration (FDA) of many commercially available direct-to-consumer (DTC) genetic test has created access to this technology online without a physician-driven test order. Initially, these DTC tests were primarily reporting genetic ancestry data or health traits such as whether one can smell asparagus in their urine. However, several companies are now offering increasingly relevant medical data including hereditary cancer risk as well as whole-genome sequencing. Consumers are highly engaged in this level of genetic testing, and in this era of patient-driven medicine, patients are demanding that their healthcare providers support and be receptive of the integration of these results into their personal healthcare management. The advancements in the identification of genetic-related risk as well as the increasing availability of testing and reimbursement for testing make genetics highly relevant to the average family medicine patient. Genetics is now impacting preventative health decisions, routine prenatal care, medication selection, and identification of risk for many complex chronic diseases. The potential patient population that may benefit from genetics is outgrowing the genetic specialist workforce. There are not enough medical geneticists or genetic counselors to keep up with the increased need for knowledge and resources. In addition, the geographic distribution of genetic specialists primarily near large academic health centers markedly limits access for most patients. Finally, increasing insurance copays and deductibles create an additional barrier to patient access to specialty care genetics. Integration of genetics, genomics, and precision medicine is a logical extension of the services provided by family medicine given the broad relevance of precision medicine to patient care.

To successfully integrate genetics and genomics into the practice of family medicine, physicians need to be familiar with common genetic terminology and concepts as well ...

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