Germline Genetic Testing Can Benefit All Cancer Patients as a Routine Practice in Cancer Care

Germline Genetic Testing Can Benefit All Cancer Patients as a Routine Practice in Cancer Care

05/25/2021

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Invitae Corporation (NYSE: NVTA), a leading medical genetics company, is presenting multiple studies in multiple cancer types at the 2021 American Society of Clinical Oncology (ASCO) Annual Meeting showing all cancer patients can benefit from germline genetic testing to guide their care. The use of genetic information informs changes in cancer care, increases access to precision therapies, and guides screening for high-risk individuals and their family members. Earlier detection and precision therapies are critical to increasing survivorship for people with cancer, yet the oncology community has been slow to adopt routine testing.

"Cancer is a disease of genetics, yet clinical practice has struggled to keep pace with rapid advancements in research, particularly with respect to the role of germline genetics. Testing guidelines and medical policy often codify barriers, further lengthening the path to adoption of widespread testing and in some cases restricting access to precision therapies and clinical treatment trials," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "Research presented at ASCO shows that cancer-linked genetic changes are common across cancer types and when patients do receive germline testing, over two-thirds of those with positive results are eligible for changes to their treatment plans. It's clear that incorporating germline testing alongside tumor profiling can help oncologists better tailor treatment for each patient."

Data from 250 pancreatic cancer patients from the landmark INTERCEPT study conducted at the Mayo Clinic found that nearly one in six patients with pancreatic cancer (n=38) showed cancer-linked genetic changes and, importantly, receiving germline testing was associated with improved survival.

A separate study of prostate cancer patients confirmed similar findings in other cancer types that limiting testing deprives patients and clinicians of actionable information. In the first-ever presentation of the PROCLAIM study, which was conducted primarily in community urology clinics, of patients diagnosed with prostate cancer, a significant number of cancer-linked variants were missed if testing was done based on NCCN guidelines. Of the 532 patients with clinician-reported data, nearly half, 45% (n=239), did not meet NCCN criteria. Overall, 59 patients had a cancer-linked variant; one in 10 of them did not meet the criteria (9.6%, n=23), and 12.3% (n=36) of patients met the criteria. When a 12-gene panel was used, only 29 patients were found to have a cancer-linked variant and one-third of these patients were missed by guidelines.

A third study showed simply changing medical policy is not enough to drive changes in clinician adoption. In a review of two independent datasets, including commercially insured and Medicare Advantage enrollees, only 3% (n=1,675) of the 55,595 colorectal cancer patients received germline genetic testing, despite medical policy recommending germline genetic testing for all colorectal cancer patients (consistent with the INTERCEPT colorectal cancer study). Of the patients who received testing, 18% (n=143) had a cancer-linked variant and two-thirds, or 67% (n=96), of those patients were potentially eligible for precision therapy and/or clinical trials.

"The data have been available for years that show knowing what changes patients have in their genes is beneficial to treating their cancer. Yet the oncology community has been slower to adopt germline testing than tumor profiling, for reasons that are not entirely clear. These data presented at ASCO highlight the need for oncologists to embrace germline genetic testing as routine practice for all cancer patients," said Robert Nussbaum, M.D., chief medical officer at Invitae. "A positive germline genetic result may enable patients to enroll in clinical trials or gain access to new precision medicines. And equally important, the discovery of an inherited variant can alert relatives to seek out earlier cancer screening, helping avoid later-stage diagnoses and offering a treatment benefit if cancer develops."

Invitae aims to help overcome obstacles to the adoption of genetic testing by providing physicians with clinical consults to help interpret results and reducing cost as a barrier to genetic information. Invitae also provides patients direct access to genetic counselors, helping to integrate routine genetic testing into patient care with GIA, a HIPAA-compliant chatbot. Family members are also able to receive no-charge genetic testing if a positive result is found.

Details of the 2021 ASCO presentations:

Oral Abstract Session: Prevention, Risk Reduction, and Hereditary Cancer

  • Abstract #10504: Underdiagnosis of germline genetic prostate cancer: Are genetic testing guidelines an aid or an impediment? Presented by Neal Shore, M.D.
  • The on-demand discussion will take place on June 4, 2021, from 9:00 - 11:30 a.m. ET.

Poster Discussion Session: Prevention, Risk Reduction, and Hereditary Cancer

  • Abstract #10514: Clinical impact of medical policy supporting universal germline testing for patients with colorectal cancer. Presented by Sarah Nielsen, M.S., L.C.G.C
  • Abstract #10515: Limitations of direct-to-consumer (DTC) genetic testing for hereditary breast and ovarian cancer. Presented by Neelam V. Desai, M.D.
  • On-demand poster discussions will take place on June 4, 2021, from 9:00 - 10:00 a.m. ET.

Poster Session: Prevention, Risk Reduction, and Hereditary Cancer

  • Abstract #10534: Germline alterations among Hispanic men with prostate cancer. Presented by Justin Shaya, M.D.
  • The poster will be available on-demand beginning June 4, 2021.

Poster Session: Gastrointestinal Cancer--GastroesophageaI, Pancreatic, and Hepatobiliary

  • Abstract #4118: Clinical impact of pathogenic germline variants in pancreatic cancer: Results from a multicenter prospective universal genetic testing study. Presented by Pedro L. Uson Junior, M.D.
  • The poster will be available on-demand beginning June 4, 2021.

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

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