One of the largest healthcare systems in the U.S. and a company involved in genomics plan to launch a study to collect population-level genetic data.
San Mateo, California-based Helix said Thursday that it would work with the Mayo Clinic of Rochester, Minnesota, to sequence 100,000 people in order to build a genomic database. The study, called Tapestry, will use Helix’s Exome+ next-generation sequencing technology product to screen participants’ exomes for genetic variants that increase the risk of disease. In particular, participants will be screened for often unrecognized actionable conditions, including familial hypercholesterolemia, the BRCA1 and BRCA2 genes that increase the risk of breast and ovarian cancer, and Lynch syndrome, which is a form of hereditary colorectal cancer.
In a phone interview, Justin Kao, Helix’s senior vice president for business development and strategy, said the study is expected to take three to four years and begin in a matter of weeks. The enrollment process may even go faster than that, he said, based on how a similar study in Nevada enrolled 25,000 participants in the space of six months. The long-term aim is to move genomic sequencing beyond the clinic and into the general population.
“This is not just something that can benefit very sick cancer patients, but one day we believe it will benefit every person at birth,” Kao said.
Other health system partners of Helix include AdventHealth in Orlando, Florida, which launched its partnership with Helix in April of last year, as well as Renown Health in Nevada, which also is collaborating with Helix as part of its Healthy Nevada Project.
Burlingame, California-based Color is another company involved in population genomics. In October 2019, Color teamed up with Ochsner Health System in Louisiana in a program to bring genetic information into preventive care. And in August, Color signed onto the National Institutes of Health’s All of Us program, which started in 2016 and has the goal of enrolling at least 1 million Americans to collect health data and improve precision medicine.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
Kao said that what sets Helix apart from competitors is its ability to read all 20,000 genes that code for proteins, as well as hundreds of thousands of regions outside of those. In addition, he said, its end-to-end platform is designed to be usable by any health system.
“They don’t have to be a Mayo Clinic, with all the academic prowess that Mayo has,” he said.
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