PRS for the PCP: Evaluating polygenic risk scoring in primary care with clinical trials

Wednesday, October 18 | 3 – 4:15 p.m. ET | Online

Beginning September 2022, NHGRI will host a new seminar series based on its Genomic Innovator Award Program, which supports innovative work by early-career genomics investigators who are part of consortia or other team-science efforts. Each seminar will feature an early-career researcher and an established researcher. Their presentations will cover specific topics that showcase the creative ways that early-career investigators are accelerating genomics research.

Each seminar will include two speakers (each giving 20-minute talks) followed by a moderated Q&A session.

This seminar will be presented by speakers:

Katrina A.B. Goddard, Ph.D.
Director, Division of Cancer Control and Population Sciences
National Cancer Institute

Jason L. Vassy, M.D., MPH, M.S.
Associate Professor of Medicine; Clinician-Investigator; Founding Member of Precision Population Health
Harvard Medical School; Veterans Affairs (VA) Boston Healthcare System and Brigham and Women’s Hospital; Ariadne Labs

Please note: registration is required. Learn more and register on the Genomic Innovator Seminar Series website.

Updates in Precision Medicine and Pharmacogenomics Conference

March 2-3 | Virtual & Orlando, FL

The University of Florida College of Pharmacy has partnered with GenomeWeb’s Precision Medicine Leaders’ Summit to produce this event, which will be in-person and live streamed.

Updates in Precision Medicine and Pharmacogenomics will highlight the evolving role of molecular profiling in guiding pharmacotherapy decision-making – from new developments in pharmacogenomics to the use of companion diagnostics, polygenic risk scores, and other biomarker strategies.

Visit the Updates in Precision Medicine conference website for more information and to register.

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

Posted on by Alexis

Judit Kumuthini, Brittany Zick, Angeliki Balasopoulou, Constantina Chalikiopoulou, Collet Dandara, Ghada El-Kamah, Laura Findley, Theodora Katsila, Rongling Li, Ebner Bon Maceda, Henrietta Monye, Gabriel Rada, Meow-Keong Thong, Thilina Wanigasekera, Hannah Kennel, Veeramani Marimuthu, G2MC Evidence investigators; Marc S Williams, Fahd Al-Mulla, Marc Abramowicz

Abstract
Genomic medicine aims to improve health using the individual genomic data of people to inform care. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. clinical utility. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice.