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Genetic counseling and testing

Benjamin A Raby, MD, MPH
Wendy Kohlmann, MS, CGC
Vickie Venne, MS, CGC
Section Editor
Anne Slavotinek, MBBS, PhD
Deputy Editor
Jennifer S Tirnauer, MD


The inherited nature of disease has long been recognized. The field of medical genetics initially sought to explain the cause of rare diseases with a single gene Mendelian inheritance pattern, such as cystic fibrosis or Huntington disease. Recent discoveries have led to an exponentially increased understanding of the causes of many common diseases, in which disease risk often is determined by the combined effects of genetic and non-genetic factors.

Gene alterations that confer increased risk for adult onset conditions such as cancer, diabetes, cardiovascular disease, and other common diseases have been identified [1]. The hope is that identification of heightened genetic risk will allow specifically tailored interventions (ie, “personalized” or “precision” medicine), encourage lifestyle changes, and ultimately prevent disease. As an example, in the case of women identified with a BRCA1 or BRCA2 gene mutation, a prospective multicenter study found that women who underwent risk-reducing salpingo-oophorectomy, compared to those who did not, had lower all-cause mortality (HR 0.40, 95% CI 0.26-76) and a lower risk of cancer incidence and cancer-specific mortality [2]. There were no breast cancers in those women with BRCA mutations who underwent risk-reducing mastectomy, compared to breast cancer occurrence in 98 of 1372 women who did not have a mastectomy [2].

Targeting appropriate patients for genetic counseling and testing is key to the successful transfer of genetics research to improvement of health and quality of life. The primary care clinician works at the front line where advances in genetics research can be directly applied to patient care.

This review will focus on providing general guidelines related to genetic assessment for common, adult-onset conditions and will address obtaining a health history, genetic counseling and testing, and the primary care clinician's role in this process. The genetics of specific disorders are addressed separately.

Additional discussions are provided on the following topics:


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Literature review current through: Sep 2016. | This topic last updated: Mar 10, 2015.
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