Research published: improving family screening for individuals at genetic risk for heart disease

For the the Patient Acceptance of Genetic Testing (PAGENT) Study, the Family Heart Foundation partnered with Color Genomics to understand the willingness for individuals with a clinical diagnosis of familial hypercholesterolemia (FH) and their family members to undergo confirmatory genetic testing.

the Family Heart Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for 3 genes associated with FH ( LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening.

Over one third of the 435 individuals eligible to participate in the study from the portal opted to participate (total: 147) which highlighted a high portion of individuals interested in receiving genetic testing. Of those, 110 ultimately received genetic testing and 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Unfortunately, only 3 first-degrees relatives underwent genetic testing. This research was published in the Journal of Clinical Lipidology and also highlighted in this article by Medscape.

"Our study found that individuals with clinically diagnosed familial hypercholesterolemia (FH) were interested and willing to get genetic testing when barriers were removed. Testing was offered at no cost and the individual could keep the information private or choose to enter the data into their health record.

However, this did not translate to an uptake in first degree family members getting genetically screened for FH despite there being a 50% chance of each of these relatives having inherited this genetic condition. We need to further study how to effectively educate and activate both clinicians and affected families on the importance of family screening for FH."

- Katherine Wilemon
Founder and CEO of the Family Heart Foundation

Another recent publication highlighted the perspectives of individuals living in the United States and internationally on whether or not they would prefer direct or indirect contact for family screening (cascade screening) for familial hypercholesterolemia (FH). With "indirect contact," the diagnosed FH individual, referred to as the "index case" encourages relatives to undergo testing. In "direct contact" individuals give their healthcare provider (HCP) permission to contact relatives and offer information on the index case's behalf. Researchers from Geisinger and the Family Heart Foundation collaborated together and issued an online survey to gauge individuals' understanding of FH and inherited heart disease, as well as their perceptions about the different testing methods. In the United States, the survey was promoted through the Family Heart Foundation's social media channels.

“Reaching out to family members about your diagnosis of FH is not always straightforward. Previous studies have shown that individuals with FH would appreciate assistance from their healthcare providers to help share information about FH with at-risk relatives. We were excited to collaborate with the Family Heart Foundation to ask individuals with FH what they think about this direct contact by a healthcare provider to their family members at risk.
The major take home message is that the majority, 58%, of individuals indicated that they’d be willing to provide contact information for relatives to a healthcare provider so that that provider could then directly reach out and inform relatives of their FH risk. This is very important, as novel methods of risk communication and cascade testing need developed in the U.S. to help identify the 90% of individuals with FH currently undiagnosed.”
- Amy Sturm, MS
Professor and Director of Cardiovascular Genomic Counseling, Geisinger

the Family Heart Foundation is working on several research programs alongside leading institutions to find solutions to the barriers that were uncovered. One study we are excited to partner with Geisinger on is the IMPACT FH study, which we wrote about in this blog. IMPACT FH (Identification Methods, Patient Activation, and Cascade Testing for FH) aims to optimize FH identification methods, increase screening of at-risk relatives of individuals with FH, and determine how to implement needed changes in healthcare systems across the U.S.

If you would prefer to listen, Amy Curry Sturm highlights this study in a recent podcast with mendelspod.com.

Keep tuning in to our blog and newsletters to receive more updates on what the Family Heart Foundation is doing to lead the fight against inherited risk for heart disease and stroke!