April 3, 2019 -- PerkinElmer has launched GenePrism: Actionable Insights, a clinical-grade DNA test for genetic screening. GenePrism: Actionable Insights is designed to analyze all 59 ACMG genes in their entirety -- including BRCA1 and BRCA2, which have been associated with a higher risk of breast cancer
While there are some 6,000 genes associated with disease, only 59 genes are identified by the American College of Medical Genetics and Genomics (ACMG) as being medically actionable, the company noted. GenePrism: Actionable Insights is designed to analyze all 59 of these genes in their entirety -- including BRCA1 and BRCA2, which have been associated with a higher risk of breast cancer.
The growing interest in DNA testing is prompting many individuals to visit their healthcare providers for more information about their genetic makeup. GenePrism: Actionable Insights is designed to help providers meet that interest with medically actionable information.
PerkinElmer is offering GenePrism: Actionable Insights through a partnership with DNA marketplace Helix. Individuals who purchase GenePrism: Actionable Insights from Helix must fill out a medical questionnaire and receive physician authorization before submitting a DNA sample. Samples are sequenced using Helix's clinical-grade Exome+ assay.
Through a collaboration with Genome Medical, the personal and family medical histories of users are vetted by a team of physicians, geneticists, and genetic counselors. The testing report available through GenePrism: Actionable Insights includes free genetic counseling sessions from Genome Medical as a way of ensuring that customers understand their results fully and in the correct context, PerkinElmer said.
People who complete the test will gain insight into potential genetic risks for disease through an interactive results portal and guidance from genetics experts via telemedicine. This allows users to be proactive with their health, and it allows healthcare providers to spend additional time with those whose results require further action or testing, according to the company.
Until now, clinical genetic testing for the 59 ACMG genes had been restricted to people with an illness or specific indicators in their family histories, PerkinElmer added. This is despite the fact that, on a population basis, 3% to 4% of people have a genetic variant that can significantly affect their health; with GenePrism: Actionable Insights, previously ineligible individuals can now learn if they have a genetic variant that may be associated with a disease.