Personal genomics company Helix is partnering with the Central Florida Division of healthcare provider AdventHealth in an ambitious study that will screen participants for four genes linked to familial hypercholesterolemia (FH).
The study, titled WholeMe, will give 10,000 participants the opportunity to have Helix screen for pathogenic variants in the APOB, LDLR, LDLRAP1, and PCSK9 genes, which control how cholesterol is cleared by the body.
Mutations in those genes have been shown to cause FH, an inherited genetic disorder that causes high levels of low density lipoprotein (LDL or “bad”) cholesterol, which then accumulate in the bloodstream and can ultimately build up in the walls of the arteries. The resulting hardening of the arteries, or atherosclerosis, can lead to premature cardiovascular disease, including heart attacks in young adults.
According to the FH Foundation, only 10% of people with FH knew they have any of the genes linked to the disease, while people with untreated FH have 20 times the risk of the general population for developing early aggressive heart disease.
Helix will screen the genes using its proprietary Exome+ next-generation sequencing technology; the “plus” stands for screening more than the approximately 2% of the genome that codes for protein. Exome+ screens the whole exome as well as hundreds of thousands of other areas of the genome, and delivers the mitochondrial DNA sequence.
Helix provides a comprehensive test that looks at single base pair changes (SNVs) as well as large deletions and duplications (CNVs) within these genes, a spokesperson told Clinical OMICs.
Helix said it sequences at a level of quality and accuracy that is appropriate for clinical use, and delivers more robust results than are available through either microarray testing or whole-exome sequencing alone. The technology is designed to be leveraged by a broad array of products that offer DNA-based insights, from health to ancestry to family planning and beyond, according to the company.
Saliva-Based Test
Helix screens for FH via the saliva-based Inherited Cholesterol Test, developed by Admera Health and limited for use to U.S. residents aged 18 or older—except in New York, where the test is not available.
According to the spokesperson, Helix plans to share the results of the screening with Admera Health, which will review the test results to see if participants are at risk for FH. Four to eight weeks after providing the saliva sample, participants will receive an email from Admera Health with information about the genetic results for FH. Researchers will then check-in with participants six months after they receive their DNA results.
Helix markets the test on its website for $249.99 for new customers, and $124.99 for returning customers. The price for new customers includes $70 collected for an independent physician to review and determine whether the test is appropriate a user, as well as for genetic counseling services.
“Our partnership with AdventHealth, and in particular the WholeMe study, will empower individuals with information about how their genetics could impact their heart health,” James Lu, co-founder and senior vice president of Applied Genomics at Helix, said in a statement. “By leveraging Helix’s population health solutions together, we will be able to provide individuals with insights about how their DNA impacts their overall well-being.”
The WholeMe study is open to all adults who live in Florida, though the enrollment sites are all based in the Orlando area. Earlier this year, AdventHealth Orlando began laying a foundation for its comprehensive genomics program, which is called AdventHealth Genomics & Personalized Health and is designed to ultimately provide comprehensive genomics testing, analysis, interpretation and genetic counseling services.
According to AdventHealth and Helix, researchers will check-in with participants six months after they receive their DNA results. There is no cost for participants to join the study, which has received what the partners called “generous” community support through AdventHealth Foundation Central Florida.
Through WholeMe, researchers will also gain insight on how consumers respond, in both the short- and long-term, to knowing their genomic information, according to Helix and AdventHealth.
“Genomics is core to our mission as we seek to redefine health care and create a consumer-centered system that’s built on the principles of whole-person health, prevention and wellness,” stated Daryl Tol, president and CEO of AdventHealth’s Central Florida Division. “From disease prevention to diagnosis to treatment, genomics is the future of medicine. It will be an essential component of health care in the years ahead and AdventHealth is proud to partner with Helix to bring this opportunity to Florida.”
