New research demonstrates the importance of genetic testing for many cancers not currently covered by clinical guidelines

Study findings to be presented at the 2024 ASCO Annual Meeting reveal hereditary risk for stomach and lung cancer, among others, underscoring the need for more widespread genetic testing

SAN FRANCISCO, May 23, 2024 /PRNewswire/ — the invitation (OTC:NVTAQ), a leading medical genetics company, today announced eight studies to be presented at the 2024 American Society of Clinical Oncology (ASCO) Annual Meeting held in Chicago BY 31 May – 4 June 2024. The clinical data presented demonstrate the importance of genetic testing for patients with various types of cancer, including breast, gastric, prostate, and lung, to better inform management and treatment decisions.

Genetic testing guidelines should include more cancers, with new data finding stomach, lung and prostate cancer patients with inherited genes linked to increased cancer risk

Gastric cancer is the fourth leading cause of cancer-related death worldwide, and the role of pathogenic (disease-causing) variants in cancer-predisposing genes is not well understood for this disease. A study looked at the results of genetic testing in 3,706 stomach cancer patients, the largest study of its kind to better understand the prevalence of disease-causing variants in cancer-related genes. The results revealed that the proportion of patients with disease-causing variants was 13.4%, about 1 in 8 patients. This demonstrates the value of genetic testing in all gastric cancer patients, as the prevalence of pathogenic variants is similar to other types of cancer for which guidelines recommend universal genetic testing.

“Current guidelines have not met the needs of patients for all types of cancer, including gastric cancer,” said Dr. Ophir Gilad, University of Chicago and a co-author of this study. “The prevalence of active gene variants found in this study of gastric cancer patients is on par with other types of cancer for which guidelines recommend universal genetic testing. We are seeing increasing evidence for genetic testing of generation to help guide family testing and treatment plans for different types of cancer.”

Furthermore, in a study of 14,317 lung cancer patients, 12.6% had pathogenic band variants—regardless of smoking history. The results of the study suggest that these inherited genes are not only independently associated with lung cancer, but also increase smoking’s risk of lung cancer. These data reinforce previous studies supporting the consideration of genetic band testing for all lung cancer patients, regardless of age or reported smoking history.

Genetic testing is not similarly used for prostate cancer. In a large study of 15,000 prostate cancer patients who received genetic testing, results showed that of patients with genetic variants that increase the risk of prostate cancer, 3 out of 4 patients had no reported family history of prostate cancer, and more than 1 in 3 patients had no reported family history of any cancer. The findings underscore the importance of genetic testing for all prostate cancer patients, regardless of age, stage or family history.

Breast cancer data RWANDA indicates the need for more genetic testing in underrepresented populations

Despite the observation that cancers are often diagnosed at young ages and take an aggressive course in sub-Saharan Africa (SSA), genetic data that can inform treatment are limited for this population group.

In a recent study, patients undergoing cancer treatment at hospitals in RWANDA for female breast, male breast and prostate cancer underwent multigene panel testing (Invitae), and the results revealed that a large proportion of patients had inherited pathogenic variants that could help their treatment (18.3% of cancers of female breast, 16.7% of male breast cancer, and 4.3% of prostate cancer patients). The findings suggest that genetic testing should be implemented more routinely in cancer care and prevention strategies in this population.

Underrepresented racial, ethnic, and ancestry (REA) groups face these challenges across geographies. In another recent study presented at ASCO that included more than one million people over an eight-year period who underwent genetic testing for inherited cancer syndromes, it was found that underrepresented REA groups are disproportionately affected by significant variants of uncertain (VUS) in genetics. tests, which are uncertain results that are not clinically applicable. With more representation of these groups in clinical studies, there will be more data that can reveal life-saving discoveries. Clinical trials were the most significant source of information leading to the resolution of VUS, underscoring the importance of clinical-laboratory partnership and communication.

“Germline genetic testing should be the standard of cancer care across many types of cancer. In underrepresented populations, this is especially important as more information needs to be gathered to better inform care and improve the health of the population at large.” ,” said Dr. Michael Korn, chief medical officer at Invitae. “Each year, ASCO provides us with an opportunity to share compelling research to help advance cancer treatment, and we are proud of the clinical insights our tests are able to provide across all types of cancer.”

Study provides reassurance that variants of uncertain significance in genetic testing results among breast cancer patients do not lead to overuse of treatment or surveillance interventions, such as mastectomies

It is common for breast cancer patients undergoing germline genetic testing to have inconclusive results, but it has previously been unclear whether these results influence clinical management. However, a recent study presented at ASCO presents new evidence showing that variants of uncertain significance (VUS) identified through germline genetic testing do not result in guideline-inconsistent management in real-world settings. Specifically, patients with breast cancer and VUS results demonstrated similar rates of treatment, prevention, and surveillance interventions compared to those with negative results. This provides assurance that VUS results do not lead to overuse of mastectomies or other interventions for breast cancer patients.

ASCO 2024 Presentations and Posters:

  • Oral Presentation/Abstract 10513: Title: Tracking uncertainty in generational genetic testing for inherited cancer syndromes: Sources, attributes, and resolution of variants of uncertain significance in over 1 million individuals. Presenter: Brian ReyesMS, CGC
  • Oral Presentation/Abstract 10512: Title: Real-world cancer care utilization among breast cancer patients with germline variants of uncertain significance. Presenter: Allison W. KurianMD, MS, MSc, FASCO
  • Poster 374/Abstract 6058: Title: Combining patient-specific tumor and HPV sequences to enable high-sensitivity detection of ctDNA in patients with HPV-related oropharyngeal carcinoma. Presenter: Bill DiplasMD, PhD
  • Poster 106/Abstract 10579: Title: Uptake of risk reduction, surveillance, and therapeutic interventions among breast cancer patients with pathogenic germline variants. Presenter: Allison W. KurianMD, MS, MSc, FASCO
  • Poster 508/Abstract 5102: Title: Genome-specific gene associations in a large prostate cancer cohort. Presenter: Hiba KhanMD, MPH
  • Poster 105/Abstract 10578: Title: Prevalence of pathogenic genetic variants in gastric cancer patients ascertained through multigene panel testing. Presenter: Ophir GiladMD
  • Poster 118/Abstract 10591: Title: Band sequence variation in Rwandan breast and prostate cancer patients. Presenter: Achille ManiakizaMD, MMmed
  • Poster 302/Abstract 8040: Title: Smoking and pathogenic germline variants in lung cancer patients. Presenter: Ed EsplinFACMG, FACP, MD, PhD

About Invitations
Invitae (OTC: NVTAQ) is a leading medical genetics company, trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae’s genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve health care for billions of people.

To learn more, visit and follow for updates on LinkedIn, X, InstagramAND Facebook @Invitae.

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Reform Act of 1995, including statements regarding the company’s beliefs regarding its new research; the company’s belief that its new research demonstrates the importance of genetic testing for many types of cancer not currently covered by clinical guidelines; the company’s belief that its new research demonstrates the need for more research in underrepresented populations; and the company’s belief that its research helps advance cancer treatment. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinical results to actual results; the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; risks and uncertainties related to the Company’s ability to consummate and successfully complete a Chapter 11 plan or any strategic or financial alternative, and the Company’s ability to implement and realize any anticipated benefits associated with the sale of assets to Labcorp and any alternatives that may be pursued, including asset sales and cessation of operations; the liquidity and possible trading of the company’s public securities; and any impact resulting from delisting the Company’s common stock from the New York Stock Exchange and trading instead on the OTC Pink Market; and other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Quarterly Report on Form 10-Q for the quarter ended September 30, 2023. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Invite PR contact:
Renee Kelley
[email protected]

SOURCE Invitae Corporation

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