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Genetics
Use and interpretation of genetic tests in cardiovascular genetics
  1. Colleen Caleshu1,
  2. Sharlene Day2,
  3. Heidi L Rehm3,
  4. Samantha Baxter4
  1. 1Program in Cardiovascular Genetics, Division of Medical Genetics, University of California, San Francisco, California, USA
  2. 2Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan Health System, Ann Arbor, Michigan, USA
  3. 3Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA
  4. 4Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA
  1. Correspondence to Colleen Caleshu, Stanford Center for Inherited Cardiovascular Disease, 300 Pasteur Dr Boswell, A201C Stanford, CA 94305-5233, USA; cobrown{at}stanfordmed.org

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Our understanding of the genetic basis of many Mendelian forms of cardiovascular disease has advanced significantly in the last 5–10 years. There are now many professional society guidelines that recommend genetic testing for a variety of hereditary cardiovascular diseases including long QT syndrome, hypertrophic cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy (ARVC).1–3 The number of genes associated with cardiac conditions continues to increase, and the number of clinically available genetic tests for cardiac conditions has expanded rapidly in recent years (table 1).

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Table 1

Genetic tests for hereditary cardiac conditions. Genetic tests for hereditary cardiac conditions typically involve sequencing some or all of the various genes associated with a given condition. The number of genes included and the sequencing methodology used may vary by laboratory. Some laboratories also offer analyses to look for duplications or deletions in the associated genes

Clinical genetic testing can be highly valuable in the management of families with hereditary disease. Determining which family members inherited the genetic predisposition to cardiac disease allows us to separate those in need of lifelong clinical evaluations from those who need no further evaluations beyond those recommended for the general population. This strategy is particularly valuable in inherited cardiovascular diseases where definitive clinical diagnosis of at-risk relatives is limited by incomplete penetrance, variable age of onset and, in some cases, insensitivity of clinical testing.4–7

Recent guidelines and expert opinions have gone beyond simply recommending genetic testing; they emphasise important points for the judicious use of genetic testing such as performing genetic testing on the most clearly affected person in the family, careful genetic counselling regarding the implications of positive, negative or uncertain results, and consideration of referral to a specialised centre due to the complexity of such genetic evaluations.1 8 9 To further elucidate principles and approaches critical to the …

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