SAN FRANCISCO, Jan. 7, 2019 /PRNewswire/ -- Today Color announced an initiative to help build the foundation for the first mainstream application of whole genome sequencing in clinical care, through the use of polygenic risk scores. Polygenic risk scoring can help clinicians identify populations who are at risk for diseases such as cancer and heart disease in order to optimize prevention and treatment regimens according to an individualized understanding of risk.
The initiative, in which Illumina will provide sequencing reagents and hardware, aims to enroll 100,000 volunteers, including those from historically underrepresented groups, in Color's research platform (data.color.com). As part of this effort, Color will develop research tools to improve the accuracy of polygenic risk scores applications in diverse populations.
Previously, Color demonstrated the ability to utilize NGS sequencing technology through instruments developed by Illumina, to produce polygenic risk score data, instead of relying on older genotyping technology. This approach unlocks a more versatile approach to assessing risk across a wide variety of conditions and addresses the historical limitations of sensitivity across ethnicities found in other polygenic techniques.
Illumina's NovaSeq platform enables Color to offer low-pass whole genomes to help provide robust information to any patient and clinician that may help inform clinical care. Color will begin releasing its first polygenic risk score for cardiovascular disease early this year. With the consent of participants, anonymized data tools on Color Data will enable academic scientific researchers to access this information freely for their own research, in turn advancing discoveries relevant to historically underrepresented groups and advancing health equity.
"We believe in the tremendous potential of whole genome sequencing to improve the healthcare of individuals around the world," said Othman Laraki, Color CEO. "We are committed to ensuring similar access to this kind of information for individuals who have historically been underrepresented in genomics research, which is critical not only to advancing biomedical discoveries, but also to ensuring the best possible care for individuals of any background around the world."
"A high polygenic risk score is the main risk factor in about 20% of people with a premature heart attack. Color's test will allow patients and clinicians to catch this risk prior to a heart attack and to consider interventions – lifestyle and/or medicines – to reduce risk," said Sekar Kathiresan, MD, Director, Center for Genomic Medicine at Massachusetts General Hospital, an Institute Member at the Broad Institute, and Professor of Medicine at Harvard Medical School. Dr. Kathiresan and his colleagues have pioneered the development of the polygenic score test for heart disease.
"This is an exciting endeavor that we are proud to be a part of," said Mark Van Oene, Chief Commercial Officer for Illumina. "Polygenic risk scoring is becoming increasingly valuable in the identification of specific populations who may carry a higher risk of disease."
"For most people, their risk for developing a health condition is not going to be explained by a strong single gene like BRCA1/2 in hereditary cancer. To reach the full potential of personalized medicine at the population level, incorporating polygenic risk score is critical – everyone has a polygenic risk score," said Peter Hulick, MD, Medical Director, Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, IL.
Color is a population genomics technology company. Color's clinical-grade sequencing, software and analytics platform makes it easy and affordable for people around the world to access their genetic information to learn about their hereditary risk for cancer and heart disease, and how their genes affect medication management. Simply providing a saliva sample from home gives Color clients access to an ongoing service that provides tools and insights to manage key aspects of their long-term health. Large populations such as employers (Visa, Levi Strauss, Salesforce, SAP, dozens of others) and health systems (including UCSF, Jefferson and University of Chicago) are partnering with Color to bring genetics and preventive health to their populations in a streamlined and integrated way. Learn more at www.color.com.