Ambry experts and collaborators presented new research at this year’s Annual Meeting on Women’s Cancer. In addition to discussing GYNplus and OvaNext testing options, Ambry featured three scientific posters and a lunch presentation “Advancing Molecular Diagnostics for Gynecologic Cancer: Efforts in Data Sharing and Tumor Testing to Improve Patient Care,” with speakers Mike Janicek, MD, and Virginia Speare, PhD, CGC, March 12th-15th.
The presentation highlighted the current efforts and future directions in the development of paired tumor/germline testing and the benefits of this type of testing for clinician’s practice. Dr. Janicek discussed the utilization of germline genetic testing and its evolution beyond BRCA1/2. Expanding the number of genes tested is critical because identification of mutations in other genes informs significant management implications.
Dr. Janicek also talked about the development of several paired tumor/germline genetic tests at Ambry, including TumorNext-Lynch (currently in a beta) which is designed to help clinicians gather all of the necessary information with one test to either diagnose or rule out Lynch syndrome for patients.
“We know germline testing is important, and we know somatic (tumor) testing is important, so why not do both at the same time with one test?” said Dr. Janicek during the presentation.
Dr. Speare, a manager for Ambry’s Clinical Collaboration and Emerging Genetic Medicine groups, then spoke about Ambry’s dedication to data sharing efforts through the AmbryShare platform, which is the world’s largest exome database, containing anonymized, aggregated data from more than 11,400 human genomes.
“We would not be where we are today with germline genetic testing and variant interpretation if it was not for data sharing,” said Dr. Speare.
She talked about how Ambry’s collaborations with various external researchers have produced a greater understanding of hereditary gynecologic cancer. These efforts include studies looking at risk estimates associated with specific genes for ovarian and other cancers. The research contributes to the evolution of official guidelines for how clinicians can better manage their patients’ conditions.
The studies also inform how Ambry continues to refine and develop more advanced genetic testing options for hereditary gynecologic cancers:
- “Prospective evaluation of a facilitated referral pathway to improve uptake of genetic assessment for women with newly diagnosed ovarian cancer” (Frey M, et al.)
- “Frequency of germline mutations in BRIP1, RAD51C, and RAD51D among women with ovarian, primary peritoneal, and Fallopian tube cancer” (Namey T, et al.)
- “In laboratory clinical data we trust? Accuracy and completeness of test requisition form data in a cohort of ovarian and uterine cancer patients referred for clinical genetic testing” (Horton C, et al.)
For more information about these abstracts, as well as more Ambry research, click here.
In addition to innovative research, Ambry offers several hereditary ovarian and uterine cancer test options for clinicians and their patients. Ambry recently updated GYNplus, which now analyzes 13 high and moderate-risk genes associated with hereditary ovarian and uterine cancer in addition to OvaNext, which tests 25 genes, now including DICER1, associated with increased risk for breast, ovarian and uterine cancer.
For a full list of our hereditary cancer panel options, click here.
