Family Screening for FH and the Use of Genetic Testing

How can we find individuals and families affected by familial hypercholesterolemia? The Journal of the American Medical Association (JAMA) published insights on the importance of family screening screening and the use of genetic testing for FH on July 25. Joshua Knowles, MD, PhD, Daniel Rader, MD, and Muin Khoury MD, PhD emphasized that family screening may help identify individuals with FH and ensure treatment before the onset of heart disease.

FH is a common genetic disorder passed down in families. Each child of a person with FH has a 50% chance of inheriting the disorder so it is essential to screen parents, siblings and children of a person diagnosed with FH to find others who may have inherited the gene. This will help identify many additional individuals with FH and help to ensure they are treated before the onset of heart disease.

Family screening (or cascade screening) for FH is highly effective and has been recommended by national and international bodies, including the CDC Office of Public Health Genomics, which classifies family screening for FH as a Tier 1 genomic application.

Family screening, referred to as cascade screening in the article, involves identifying an FH patient, called the proband, and active cholesterol screening, genetic testing, or both for all potentially affected relatives. This cycle is repeated or cascaded for each relative diagnosed with FH, increasing the number of possible detected cases.

The figure shows that case identification family screening process – 1) an index patient is identified, 2) family screening begins with first-degree relatives such as parents, siblings, and children, and if an affected parent is found, as many relatives as possible on the parent’s side of the family is recommended to be screened. Additionally, children of the affected parent’s siblings should be screened because of the importance of beginning treatment in childhood.

It identifies individuals with FH and ensures early and proper treatment.

As the landscape of FH care changes, the Family Heart Foundation believes that accessible cholesterol testing and genetic testing are becoming increasingly important in the care of this genetic condition that remains vastly undiagnosed.

It helps prevent heart disease.

Family screening is shown to be an important public health consideration and is also cost-effective. It is seen as an intervention that can reduce the burden of early onset heart disease. The authors urge individual health care providers, health systems, and public health organizations to include family screening into routine health care.

Family screening has been and will continue to be a powerful tool in the care of FH. It may serve to empower patients with the information they need to make smart decisions regarding their healthcare.

We encourage you to share this article with your physicians, community, and family members to join our mission in helping to raise awareness of FH and ultimately save lives.

Click here to view JAMA article