On May 26, 2023 Invitae (NYSE: NVTA), a leading medical genetics company, reported nine studies to be presented at the 2023 American Society of Clinical Oncology (ASCO) (Free ASCO Whitepaper) Annual Meeting held in Chicago from June 2-6, 2023 (Press release, Invitae, MAY 26, 2023, View Source [SID1234632144]). The new research insights highlight innovations in genetic testing in a variety of clinical settings, population groups and cancer types, and reinforce the need to reduce barriers to genetic services to help patients receive the most effective care and monitoring.
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Invitae’s (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. www.invitae.com (PRNewsFoto/Invitae Corporation)
Presentation showcases learnings about the benefits of germline genetic testing for lung cancer patients (Saturday, June 3, 2023 at 12:30 p.m. CDT and Monday, June 5, 2023 at 1 p.m. CDT)
Leading lung cancer expert and Invitae research partner, Renato Martins, M.D., M.P.H., Virginia Commonwealth University (VCU) Massey Cancer Center, will present findings from a retrospective study of over 7,000 lung cancer patients who completed germline genetic testing (GGT). Results of the study showed that 14.9% of patients in this cohort had pathogenic germline variants (PGVs), nearly all of which were clinically actionable. Dr. Martins will share research highlights and key takeaways about how patients with lung cancer can benefit from precision therapies based on PGVs in addition to how this vital information informs future cancer screening and family testing, which supports consideration for GGT for patients with lung cancer.
Latest PROCLAIM trial findings illustrate how prostate cancer patients experience the impact of genetic testing (Saturday, June 3, 2023 at 1:15 p.m. CDT)
Studies have shown that uptake for GGT in prostate patients varies widely (10-60%) based on the stage of the disease, practice setting and provider type. To better understand how patients experience genetic testing, Invitae enrolled unselected prostate cancer patients from 15 community urology practices to undergo multigene panel testing and collected patient-reported outcomes via surveys at least one month post GGT.
Most patients reported that their test results reduced their concerns or did not impact their level of concern regarding their cancer diagnosis, treatment or follow up. This study shows that universal GGT was beneficial to prostate cancer patients and helped to inform their treatment and follow-up decisions.
"Educational programs for germline genetic testing (GGT) for community clinicians treating prostate cancer patients is essential so they can successfully incorporate GGT into their practices," said Neal D. Shore, M.D., F.A.C.S., from the Carolina Urologic Research Center, and lead author of the study. "When clinicians understand both the ‘why’ and the ‘how’ for a successful testing program, then patients, their families and our healthcare system will all benefit."
Population level data demonstrates support for universal germline testing after a cancer diagnosis (Monday, June 5, 2023 at 3 p.m. CDT)
A study led by Allison Kurian, M.D., M.Sc., at Stanford University, in collaboration with Invitae and others, sought to better understand the adoption of genetic testing and results across cancer types. Using the statewide Surveillance Epidemiology and End Results (SEER) registries in California and Georgia, researchers were able to link results from laboratories that provided nearly all GGT in these regions to evaluate more than 1.3 million adult patients diagnosed with all reported cancer types.
The study highlighted that GGT remains low across cancer types, falling short of guidelines, and the gaps in rates of testing and particularly the continued racial/ethnic disparities in testing are critical areas for intervention that systematic implementation of current universal testing guidelines may help to address. Genetic testing use among patients for whom universal testing is currently recommended were as follows: male breast cancer (50%), ovarian cancer (38.6%), female breast cancer (26%), pancreatic cancer (5.6%), colorectal cancer (5.6%) with testing use increasing over time from 2013 to 2019. Additionally, results showed that compared to non-Hispanic whites, patients from other racial/ethnic groups received less testing without improvement over time, underscoring the need to improve access to genetic testing for underserved groups.
"Significant gaps persist in the uptake of germline genetic testing across cancer types," stated W. Michael Korn, M.D., chief medical officer for oncology at Invitae. "We continue to see evidence that the vast majority of patients who qualify have not yet benefited from testing. System-wide implementation of existing universal testing guidelines is the most effective way to identify actionable results that are currently missed, and essential to provide patients access to germline-indicated precision therapies and clinical trials, especially for underserved populations."
"The power of linking genetic testing results to SEER registry data allows us to understand what is happening at the population level – and to pinpoint where the gaps in testing lie," said Kurian. "This is a crucial step towards closing those gaps."
Study results show that novel approaches that aim to streamline germline genetic testing can help eliminate barriers in clinical practice
The research team at University of Vermont Medical Center partnered with Invitae to explore a novel and streamlined approach to genetic testing where patients with advanced cancer were first tested and then offered genetic counseling if a PGV was identified.
Patients who had been diagnosed recently (<1 year) with metastatic cancer underwent germline testing accompanied by written educational materials. Patients received outreach from a genetic counselor only if their results showed a variant of uncertain significance (phone call) or were positive for a PGV (phone call plus invitation for clinic follow-up), while those with negative results received a summary letter.
Patients and healthcare providers were given a survey to gauge their satisfaction with the streamlined testing process. More than 94% of patients appreciated having undergone testing during an existing appointment and 82% of participants felt confident that they understood the results of their test. Every healthcare provider who completed the survey was satisfied with the testing process and 94% were interested in continuing with the new approach. The study results show that there is interest from both healthcare providers and patients to incorporate new processes that remove barriers to genetic testing and facilitate seamless integration into cancer care.
Improving access to genetic testing
Invitae is presenting additional research with its partners at ASCO (Free ASCO Whitepaper) that supports the company’s mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for all. These findings underscore the importance of incorporating genetic testing into the standard of care and improving access to testing for underrepresented groups to aid in earlier diagnoses and connect patients to clinical trials as well as precision medicines.
2023 ASCO (Free ASCO Whitepaper) presentations:
Education Session Arie Crown Theater, ASCO (Free ASCO Whitepaper) Plenary Series: Rapid Abstract Updates: Titled: Landscape of Pathogenic Germline Variants in Patients with Lung Cancer. Presenter: Renato Martins, M.D., M.P.H. – Saturday, June 3, 2023 at 12:30 p.m. CDT
Education Session E451, Family Matters: Germline Testing in Thoracic Cancers: Titled: Pathogenic Germline Alterations in Lung Cancer. Presenter: Renato Martins, M.D., M.P.H. – Monday, June 5, 2023 at 1 p.m. CDT.
Oral Abstract Session S100a, Abstract 10500: Titled: Germline genetic testing use and results after a cancer diagnosis. Presenter: Allison W. Kurian, M.D., M.Sc. – Monday, June 5, 2023 at 3 p.m. CDT.
2023 ASCO (Free ASCO Whitepaper) posters:
Poster 240/Abstract 10607: Titled: Using patient-reported outcomes to assess the impact of germline genetic testing on prostate cancer patients. Presenter: Sarah M. Nielsen Young, M.S. – Saturday, June 3, 2023 at 1:15 p.m. CDT.
Poster 223/Abstract 10590: Titled: Rates of potentially actionable germline variants in homologous recombination repair genes in a large international cohort outside of the United States. Presenter: Sarah M. Nielsen Young, M.S. – Saturday, June 3, 2023 at 1:15 p.m. CDT.
Poster 183/Abstract 10550: Titled: Disparities in Germline Genetic Testing Results from a Cohort of ~493,515 Black and White Patients. Presenter: Sarah M. Nielsen Young, M.S. – Saturday, June 3, 2023 1:15 p.m. CDT.
Poster 250/Abstract 10617: Titled: Eliminating barriers to uptake of germline genetic testing for patients with advanced cancer: the GTAC study. Presenter: Kara K. Landry, M.D. – Saturday, June 3, 2023 at 1:15 p.m. CDT.
Poster 224/Abstract 10591: Titled: Implementation of universal pan-cancer germline genetic testing in an Arab population: The Jordanian Exploratory Cancer Genetics (Jo-ECAG) study. Presenter: Hikmat Abdel-Razeq, M.D. – Saturday, June 3, 2023 at 1:15 p.m. CDT.
Poster 448b/Abstract TPS622: Titled: MRD assay evaluates recurrence and response via a tumor informed assessment: MARIA-Breast Observational Trial. Presenter: Ed Esplin, M.D., Ph.D., FACP, CGAF, FACMG – Sunday, June 4, 2023 at 8 a.m. CDT.
Poster 405/Abstract 4084: Titled: A novel patient-centric longitudinal data registry platform to generate insights into real-world cholangiocarcinoma (CCA) clinical practice. Presenter: Amanda Nottke, Ph.D. – Monday, June 5, 2023 at 8 a.m. CDT.