Geisinger to Provide Clinical DNA Sequencing to All Patients

May 7, 2018
Geisinger to Provide Clinical DNA Sequencing to All Patients
Geisinger Health will begin offering DNA sequencing to patients as part of its routine clinical care. [iStock/Mark Bowden]

Geisinger Health said it will begin offering DNA sequencing to patients as part of its routine clinical care, building upon precision medicine research efforts that include a successful collaboration with Regeneron Pharmaceuticals.

Geisinger’s clinical DNA sequencing efforts will kick off with a 1,000-patient pilot program within the next six months. The clinical DNA program will then spread throughout Geisinger’s expansive geographic footprint across Pennsylvania and southern New Jersey. 

Geisinger said its expansion of DNA sequencing into clinical care followed successful precision medicine research initiatives.

Geisinger has enrolled more than 200,000 patient participants into its MyCode Community Health Initiative, which includes a system-wide biobank designed to store blood and other samples for research use by Geisinger and its collaborators. 

More than 500 Geisinger MyCode participants have received clinical reports telling them that they have a genomic variant that increases their risk of early cancers or heart disease, allowing their doctors to detect and treat these conditions before any clinical symptoms become present, Geisinger said.

Geisinger began reporting clinically actionable genomic results to research participants in 2013, in what the provider said was the first large-scale genomics project. 

“Understanding the genome warning signals of every patient will be an essential part of wellness planning and health management,” Geisinger President and CEO David T. Feinberg, M.D., MBA, said, addressing attendees at the HLTH Conference in Las Vegas. “Geisinger patients will be able to work with their family physician to modify their lifestyle and minimize risks that may be revealed. This forecasting will allow us to provide truly anticipatory health care instead of the responsive sick care that has long been the industry default across the nation.”

Added David Ledbetter, Ph.D., Geisinger EVP and CSO: “As we sequence the exomes of our patients and learn even more about particular genome variants and their impact on different health conditions, we predict that as many as 10% to 15% of our patients will benefit.”

Among Geisinger’s collaborators is Regeneron, with which the provider has partnered to sequence the DNA of MyCode participants through a collaboration launched in 2014.

Regeneron and Geisinger have teamed up through their DiscovEHR partnership to combine genotypic and phenotypic data by creating databases of paired exome sequences and de-identified electronic health records of the health system's patients.

The partners aim to discover associations between genes and diseases that are intended to lead to new treatments for Regeneron and better outcomes for Geisinger patients.

In March, Geisinger researchers joined colleagues from Regeneron and two other institutions to publish a study that used exome sequence data and electronic health records from 46,544 participants in DiscovEHR to identify genetic variants associated with serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST).

That study identified a variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene which is associated with reduced risk of chronic liver diseases. The variant is the basis of a collaboration by Regeneron and Alnylam Pharmaceuticals to discover RNA interference (RNAi) therapeutics for nonalcoholic steatohepatitis (NASH) and potentially other related diseases.

Geisinger data has also generated insights that have shaped Regeneron’s development of its investigational angiopoietin-like 3 (ANGPTL3) antibody evinacumab (REGN1500), a Phase III Homozygous Familial Hypercholesterolemia (HoFH) candidate set to launch a Phase II study in severe hypertriglyceridemia this year; and the Phase II asthma candidate REGN3500, an antibody to interleukin-33 (IL-33) set to begin Phase II studies this year in COPD and atopic dermatitis. REGN3500 is being studied both as monotherapy and in combination with the Sanofi/Genzyme/Regeneron-partnered Dupixent® (dupilumab), an interleukin-4 receptor alpha antagonist approved for adults with moderate-to-severe atopic dermatitis.

The Geisinger/Regeneron model of coupling sequencing and health/medical data is being applied,  Regeneron told Clinical OMICs earlier this year, to the $50 million-plus consortium launched in January  with five biopharma partners to speed up the sequencing of all 500,000 contributors of samples to the UK Biobank, a task now by the end of 2019.

Geisinger consists of more than 3 million patients, approximately 30,000 employees including nearly 1,600 employed physicians, 13 hospital campuses, two research centers, and a 583,000-member health plan.