Partnership Will Shape Delivery of Genetic Test Results, Counseling
The Foundation for Prader-Willi Research (FPWR) has partnered with My Gene Counsel to safely and responsibly return genetic test results to Prader-Willi syndrome (PWS) patients who have joined the first PWS Genome Project.
Launched in May, the PWS genome sequencing project seeks to unveil how variations in a patient’s DNA can influence the range and severity of PWS symptoms, and how they affect the response to different treatments.
“We are excited to take the first steps towards harnessing the knowledge of the genome to better understand and optimize individual outcomes for those with Prader-Willi syndrome,” Theresa Strong, PhD, director of research programs at FPWR, said in a press release.
My Gene Counsel, a digital health company that provides genetic counseling, will be responsible for returning the results concerning disease-causing genetic variants to PWS patients. The variants will be identified using the American College of Medical Genetics and Genomics Secondary Findings list (ACMG SF v3.0).
The delivery of the genetic test results will be accompanied by access to comprehensive genetic counseling information aimed at supporting the patient’s understanding of the results.
Specifically, each participant will receive results in an electronic “Living Lab Report” created by My Gene Counsel, along with information regarding disease risk, management options, emotional support, how the results are relevant for patients’ families, and available resources — all tailored specifically to test results.
“Offering rare disease communities, like PWS, genetic testing will push research forward,” said Ellen Matloff, president and CEO of My Gene Counsel.
“We are proud to enter the rare disease space by partnering with the Foundation for Prader-Willi Research to return genetic test results that are paired with updating genetic counseling information,” Matloff added.
The Living Lab Reports are updated continuously by a team of genetic counselors and medical experts and vetted by patient advocates.
This electronic resource also allows patients to be notified automatically, by email and/or text message, about new risk information, guidelines for disease management, and updates concerning reclassifications of genetic variants.
Patients also can receive updates through the Living Lab Reports about the progress findings of studies.
Enrollment for the PWS Genome Project in the U.S. is open to participants, ages 10 to 65 who have a genetically confirmed diagnosis of PWS. Those interested in joining the study should contact Caroline Vrana-Diaz, PhD, research project coordinator for the FPWR, at [email protected] Additional information is available here.