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Invitae Launches Study to Explore Impact of Testing Guidelines on Prostate Cancer Patients' Outcomes

NEW YORK – Molecular testing firm Invitae said on Thursday that it has begun enrolling prostate cancer patients in a study to improve understanding of how current germline genetic testing guidelines facilitate identification of variants that can impact their care.

Invitae's nationwide study will enroll men diagnosed with prostate cancer who meet current genetic testing guidelines and those who don't. Researchers will track patients to gauge whether access to genetic information changes their treatment and care recommendations, and assess their experience with testing. 

Current guidelines recommend germline assessments for men with metastatic or aggressive disease, or men with a family history of cancer.

"Guidelines were established when testing was both more expensive and less accessible and don't address newer therapeutic approvals and trial literature for expanding therapeutic options, missing many patients whose clinical care and treatment choices could benefit from genetic information," said Neal Shore from the Carolina Urologic Research Center in South Carolina, and the principal investigator on the trial.

Recently, PARP inhibitors have been approved for men with prostate cancer who have deficiencies in homologous recombination repair pathways, or have mutations in BRCA1, BRCA2, MSH6, and other genes involved in DNA damage repair.

Invitae is focused on increasing access to such assessments and has been conducting research to encourage guidelines bodies to broaden testing criteria. At the American College of Medical Genetics and Genomics' virtual meeting earlier this year, the company presented data suggesting that a substantial proportion of men with actionable germline risk variants are being missed based on current guidelines.  

"Simplifying and possibly expanding current testing guidelines would provide benefits for medical management of men with prostate cancer and offer opportunities for targeted therapies, including PARP inhibitors and qualification for clinical trials," Invitae Chief Medical Officer Robert Nussbaum said in a statement.

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