February is American Heart Month, so what better time to consider not only your own heart health, but that of your entire family?  Just as we share common traits with our relatives such as eye and hair color, we may unknowingly share a genetic pre-disposition to cardiovascular disease.  Conditions such as arrhythmias, cardiomyopathies, aortic aneurysms and dissections, and high LDL cholesterol can all be passed down from generation to generation.  If you are affected by one of these conditions and a genetic cause is identified, you will likely have a 50% chance (depending on the specific gene and its mode of inheritance) of transmitting the trait to your children.

In cardiovascular practice, the value of genetic testing lies not so much in identifying a genetic cause in a patient, but in detecting the gene mutation in the patient’s asymptomatic relatives.  According to the Heart Failure Society of America, “the primary reason to seek genetic testing for the genetic cardiomyopathies, is to more accurately predict the risk of a family member developing cardiomyopathy, who at the present has little or no clinical evidence of cardiovascular disease.¹” In other words, the only way to maximize the benefit of genetic testing is to apply it in the context of family-based medicine.  In this way, disease processes can be detected earlier in relatives, and more lives can be saved.

In an ideal world, all living parents, children, and siblings of an affected patient (proband) with a positive genetic test result would get targeted testing for the disease-causing mutation identified in the family.  However, the success rate of getting family members to participate in genetic testing has been subpar at best.  According to recent data presented by University of Pennsylvania researchers, in a study cohort of 248 probands positive for familial hypercholesterolemia-related mutations, only 43 relatives were successfully recruited to undergo targeted mutation testing for FH².

One major barrier in convincing relatives to participate in genetic testing is a perceived lack of knowledge and confidence amongst patients in communicating genetic information to their family members³. For patients wanting to educate themselves as much as possible before discussing genetic test results with their relatives, numerous resources exist that can supplement conversations with health care providers.  For more information, we invite everyone to visit Ambry’s cardiology patient website at http://patients.ambrygen.com/cardiology.

Knowledge is power. The knowledge that patients arm themselves with today will help them protect their loved ones tomorrow.

1. Hershberger R et al.  Genetic Evaluation of Cardiomyopathy – A Heart Failure Society of America Practice Guideline.  J Card Fail 2009; 15(2):83-97.
2. Ajufo, Ezim.  “Cascade Screening for FH in the US.”  FH Global Summit, 25 Sept 2017, JW Marriott Conference Center, Miami, FL.
3. Campbell M et al.  A novel approach to screening for familial hypercholesterolemia in a large public venue.  J Community Genet 2017; 8(1):35-44.