Color Launches Initiative to Improve Polygenic Risk Scores With Low Coverage WGS, Imputation

NEW YORK (GenomeWeb) – Color today unveiled an initiative to use whole-genome sequencing to improve polygenic risk scores for assessing disease predispositions in underserved populations, and indicated plans to launch a polygenic score for heart disease.

Illumina will provide sequencing reagents and software for the research initiative, within which Color aims to enroll 100,000 volunteers, including individuals from groups underrepresented in clinical studies. Through this effort Color said it hopes to develop research tools to improve the accuracy of polygenic risk scores applications in diverse populations.

A number of groups commercially launched polygenic risk scores for assessing predisposition to a variety of illnesses, such as heart disease and Alzheimer's. However, these tests have historically relied on older genotyping arrays to gauge SNPs at a time when labs are shifting to next-generation sequencing based analysis for assessment of monogenic risk scores. Additionally, most polygenic risk scores are developed using data from genome-wide association studies that were performed largely on patients of European ancestry.

Color believes it can resolve these difficulties by employing low-coverage whole-genome sequencing (lcWGS) and applying imputation to assess common genetic variations. The company recently tested the feasibility and technical accuracy of this approach using Illumina's NovaSeq platform.  

Using the same platform, Color said it will begin releasing its first polygenic risk score for cardiovascular disease early this year.

"A high polygenic risk score is the main risk factor in about 20 percent of people with a premature heart attack," Sekar Kathiresan, director of the Center for Genomic Medicine at Massachusetts General Hospital, said in a statement. "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." 

Researchers will also be able to access the lcWGS data from consenting patients on Color's research platform, Color Data, and use it to advance understanding of disease risk in historically underrepresented groups.

"We believe in the tremendous potential of whole-genome sequencing to improve the healthcare of individuals around the world," Color CEO Othman Laraki said in a statement. "We are committed to ensuring similar access to this kind of information for individuals who have historically been underrepresented in genomics research."