Press Release

Press Release

Illumina and Harvard Pilgrim Health Care Expand Access to Whole-Genome Sequencing for Genetic Disease Testing

Dec 8, 2020

Building on previous partnership successes, the organizations seek to accelerate time to diagnosis for pediatric patients with genetic diseases

SAN DIEGO & WELLESLEY, Mass.--(BUSINESS WIRE)-- Illumina, Inc. (Nasdaq: ILMN) and Harvard Pilgrim Health Care announce a risk-sharing agreement to make whole-genome sequencing (WGS) available to certain Harvard Pilgrim members, effective January 1, 2021. The program will leverage WGS to support faster diagnoses of genetic diseases in children, potentially eliminating the long, costly diagnostic odyssey experienced by many families, with the goal of improving patient outcomes.

Diagnosing genetic diseases often takes many years and diagnostic testing costs can exceed $10-20,000 for some patients. Through this agreement, Harvard Pilgrim and Illumina will work together to evaluate how insurance coverage of WGS impacts patient care and healthcare costs. To date, there are more than 20 peer-reviewed publications demonstrating the clinical utility of WGS in over 3,000 patients with suspected genetic diseases. Health economic models predict that implementing WGS earlier in the diagnostic workup is likely to be cost-neutral or even save payers money.

“Harvard Pilgrim proudly continues to lead the way in agreements designed to promote access for our members to leading-edge precision medicine technology, while containing costs for consumers and employers. We are delighted to have reached this value-based agreement with Illumina,” said Michael Sherman, MD., Harvard Pilgrim’s Chief Medical Officer. “Our members will be able to take advantage of this comprehensive technology, potentially saving themselves enormous frustration, heartache, and financial challenges. Moreover, Illumina gains the opportunity to demonstrate its value in a real-world setting through expanded use of WGS, while Harvard Pilgrim provides additional benefits but deters additional expenses that would otherwise increase costs for our members.”

During the term of the agreement, Harvard Pilgrim will cover WGS, through their network of lab providers, for pediatric patients meeting specific criteria. Illumina and Harvard Pilgrim will share the risk on genetic testing costs. Achieving a rapid diagnosis will prove most valuable for all—ending uncertainty for patient families and potentially halting unnecessary spending on the clinical side. Together, Harvard Pilgrim and Illumina will analyze the data, adjudicate the financials, and prepare a peer-reviewed study for publication.

“There are more than 7,000 known genetic conditions, and yet it can take years for patients and their families and physicians to diagnose their condition—frequently at significant cost in terms of time, money, and emotion, as patients are referred from one specialist to the next,” said Ammar Qadan, Vice President of Global Market Access at Illumina. “WGS can dramatically reduce the time it takes to diagnose genetic conditions, which can improve patient outcomes, as well as economics.”

About Harvard Pilgrim Health Care

Harvard Pilgrim and its family of companies provide health benefit plans, programs, and services to more than 3 million customers in New England and beyond. A leading not-for-profit health services company, we guide our members—and the communities we serve—to better health.

Founded by doctors over 50 years ago, we’re building on our legacy. In partnership with our network of more than 70,000 doctors and 182 hospitals, we’re improving health outcomes and lowering costs through clinical quality and innovative care management.

Our commitment to the communities we serve is driven by the passion of the Harvard Pilgrim Health Care Foundation. Through its work, low- and moderate-income families are gaining greater access to fresh, affordable food—a cornerstone to better health and well-being. To learn more about Harvard Pilgrim, visit

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit and connect with us on Twitter, Facebook, LinkedIn, Instagram, and YouTube.

Dr. Karen Birmingham

Investor Relations
Juliet Cunningham

Harvard Pilgrim
Philip Tracey

Source: Illumina, Inc.