Invitae (NYSE:NVTA), a leading medical genetics company, today presented study findings that show nine percent of patients with pancreatic cancer had genetic changes in DNA damage repair (DDR) genes that would make them eligible for PARP inhibitor therapy or clinical treatment trials. Despite professional guidelines that recommend testing for all pancreatic cancer patients, it remains underutilized in routine care. The study was presented at the National Society of Genetic Counselors 39th Annual Conference.
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"New therapeutics have recently become available to treat pancreatic cancer for patients with certain changes in genes such as BRCA1 and BRCA2. Yet despite the availability of these treatments and professional guidelines recommending testing, utilization is still lagging," said Robert Nussbaum, M.D., chief medical officer of Invitae and study author. "Pathogenic variants in these genes are associated with an increased risk of other cancers as well, such as breast, ovarian and prostate cancer, which means that a failure to test patients with pancreatic cancer impacts not only their treatment, but also the health of their families."
Importantly, the study of over 2,000 patients found that 15% of patients with actionable genetic changes reported no family history of cancer, which underscores the limitations of using testing criteria based on reported family history. National Comprehensive Cancer Network (NCCN) guidelines recommend genetic counseling and germline genetic testing for everyone diagnosed with pancreatic cancer as well as their first degree relatives -- approximately 3.5 million individuals in the United States.
In addition to evaluating the clinical relevance of genetic testing results, the study offered sponsored, no-charge testing to patients to evaluate the role of cost as a barrier to testing. Researchers found a small but significant increase (2%) in testing among African-American patients compared to typical rates among patients using health insurance, suggesting reducing cost may increase access to testing among this population.
The research was presented at the virtual annual meeting of the National Society of Genetic Counselors. The full research presentation from Invitae included:
Oral platform presentations:
- Increasing access for patients with pancreatic cancer to germline genetic testing: Clinical impacts across disease stage and ethnicity. Presented by Ed Esplin, MD, PhD, FACMG, FACP
- Evaluating variant reclassification in reproductive carrier screening. Presented by Julia Wilkinson, MS, LCGC
- Utility of adding phenotypic criteria refinement to ACMG guidelines. Presented by Lauren Frank, MS, CGC
- Comprehensive germline multigene panels change clinical care and inform treatment strategies for breast cancer patients. Presented by Sarah Nielsen, MS, LCGC
- Carrier screening for X-linked conditions is common practice. Presented by Dana Neitzel, MS, CGC
In addition to its scientific presence, Invitae will again partner with NSGC to present the Heart of Genetic Counseling award, which honors excellence in genetic counseling and patient care as recognized by patients. Nominations include stories from patients that highlight both the clinical and personal impact a genetic counselor had on their lives and the lives of their families. This year's award will be presented during a virtual ceremony on Thursday, November 17th. The finalists include:
- Rachelle Manookian, MS, LCGC, City of Hope in Duarte, CA, was nominated by a man who had been searching for answers about the origin of his cancer for more than 10 years. He hoped that any identified mutations would lead to a newly developed drug or clinical trial that could attack his cancer with precision. Manookian left no stone unturned and remained in touch until she found a clinical trial. Thanks to Manookian's persistence, he finally got answers and learned that his sons did not carry the same increased genetic risk of prostate cancer.
- Donna McDonald-McGinn, MS, LCGC, Children's Hospital of Philadelphia in Philadelphia, was nominated by the mother of a son with a rare genetic condition called 22q11.2 deletion syndrome. McDonald-McGinn has been his care coordinator and navigator for 21 years, explaining and managing the care that he has needed through his life. Always acting as his advocate, McDonald-McGinn has been there for each of his 21 surgeries and is a staunch advocate for those with 22q11.2 deletion syndrome.
- Gretchen MacCarrick, MS, CGC, Johns Hopkins Medicine in Baltimore, was nominated by a mother whose daughter has Loeys-Dietz syndrome (LDS), which was discovered in 2005. For nearly 12 years, MacCarrick has been by their side guiding them. She explains what tests are needed, what the results mean and navigates their daughter's care during their regular visits to Baltimore, including a major heart surgery. Importantly, MacCarrick has even developed a strong relationship directly with the patient who is now 16 and getting more engaged in her care.