the Family Heart Foundation brought together an esteemed group of over 30 international FH experts, and individuals with FH, to develop a consensus statement on the role of genetic testing for familial hypercholesterolemia (FH) and how it should be used for diagnosis going forward. The Panel worked together over the course of 2 years and met at the FH Global Summit™ in 2016 and 2017. The statement was published in the Journal of the American College of Cardiology.

FH remains vastly under diagnosed, leaving many at risk for early heart attacks, stents, bypass surgery, and premature death. It’s the hope and belief of the Family Heart Foundation that by incorporating genetic testing into the diagnostic care of suspected individuals with FH, we will be able to find the 90% of people who do not yet know that they have FH and help them to live longer, healthier lives.

To date, there has been no consensus on the role of genetic testing in FH diagnosis to guide informed decision making for patients, families, healthcare professionals, and policy makers.

The Expert Consensus Panel recommends that FH genetic testing should be offered to diagnose patients with definite or probable FH, and for their at-risk relatives. Testing should include LDLR, APOB, and PCSK9 genes.

Key benefits of genetic testing include:

1. genetic testing can confirm FH diagnosis;
2. a positive genetic test result for FH indicates higher risk;
3. a positive genetic test result may improve and inform treatment
4. genetic testing can improve family screening.

It is important to note that FH can still be diagnosed clinically. Treatment decisions are based on the phenotype –  LDL cholesterol, family history and other risk factors – and not the genetic testing result.