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26.05.2022 23:05

New Research Demonstrates Genetic Information Can Transform Cancer Care, Guidelines Remain a Barrier to Patient Access


- New data to be presented by Invitae at 2022 ASCO Annual Meeting show importance of genetic testing for all cancer patients -

SAN FRANCISCO, May 26, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced eight studies to be presented at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting held in Chicago from June 3-7, 2022. While the research covers a variety of cancer types, stages and patient demographics, all of the data underscore the importance of universal genetic testing to improve health outcomes for all cancer patients.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. (PRNewsFoto/Invitae Corporation)

Inherited genes impact risk for developing melanoma

Melanoma—the most frequent cause of skin cancer-related deaths—is often perceived as a cancer caused by environmental factors. While sun exposure plays a role in most melanoma tumors, a new, first-of-its-kind study by Cleveland Clinic and Invitae found that genetics also play a critical role in the likelihood of developing melanoma. In fact, the study found that 15% of individuals with melanoma have inherited variants in a variety of genes associated with cancer predisposition syndromes, demonstrating multiple potential etiologies. What's more, genes previously associated with inherited melanoma comprised less than half of pathogenic variants (48%); and the majority of germline variants were in cancer predisposition genes that are not traditionally associated with melanoma. This study shows that all patients with melanoma should undergo genetic testing, whether or not they have a family history of cancer, or a personal history of sun exposure.

"Previously, it was thought that few melanoma patients would demonstrate a pathogenic germline variant in cancer susceptibility genes indicating an inherited component to their melanoma risk," said Joshua Arbesman, M.D., dermatologist at Cleveland Clinic and senior author of the study. "Our results, however, suggest that about 1 in 6 melanoma patients would have an inherited variant in cancer genes. This means that these particular patients would benefit from cancer specific screening (separate from skin screening) that could catch other cancers earlier. We found similar results using multiple datasets with variable inclusion criteria, suggesting this may be potentially applicable to many melanoma patients."

Research shows prostate cancer testing guidelines out of date

A separate study of prostate cancer patients confirmed similar findings that limiting genetic testing to those patients who meet NCCN guidelines deprives individuals and clinicians of actionable information. In data from the ongoing PROCLAIM study, conducted primarily in community urology clinics, 50% of pathogenic variants in patients with prostate cancer would be missed if genetic testing were done based on NCCN guidelines. The study also showed current guidelines are poorly suited to detect pathogenic variants in traditionally underrepresented populations, suggesting a transition to universal testing may be the most expeditious strategy to mitigate this potential healthcare disparity. Appropriately, patients with cancer-linked pathogenic variants in the study were more likely to have recommendations made by their clinicians regarding changes to treatment, follow up and cascade testing than those with negative or uncertain results. Clinicians made genetics-based recommendations across the spectrum of patients tested, including those not meeting NCCN criteria, and those with low-grade and non-metastatic disease.

"Guidelines from national and international oncologic societies are regularly updated but not always as quickly as our understanding of gene-disease relationships in the rapidly evolving field of genomic sequencing, and thus there are real world implications affecting patient-physician decision making as well as patient access to affordable and geographically accessible genetic testing," said Dr. Neal Shore, lead author of the study. "This study shows that germline genetic testing has a significant impact on prostate cancer patient care, and that urologists, oncologists, their patients and patients' family members would benefit from making germline genetic testing a routine practice for all prostate cancer patients."

Genetic changes impact colorectal cancer care

In a third study of more than 34,000 colorectal cancer patients—the largest study of its kind to date—researchers found that 13% of patients had inherited pathogenic variants that could potentially impact patient eligibility for precision therapy, access to clinical trials and/or inform screening for future cancers. This study, in collaboration with investigators at the University of Pennsylvania Perelman School of Medicine, showed rates > 7.8% of clinically actionable pathogenic gene variants independent of age group, racial/ethnic group and panel size. The study saw a lower rate of pathogenic variants in known cancer genes in Hispanic patients and a higher rate of variants of uncertain significance (VUS) in Black, Asian and Hispanic patients. This underscores the historical underrepresentation of these patients in genetics studies, and the ongoing need to mitigate the associated healthcare disparities.

"In the United States, colorectal cancer is the third leading cause of cancer-related deaths in men and in women, and the second most common cause of cancer deaths when men and women are combined," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "The genetic variants we inherit play a crucial role in providing patients access to approved precision therapies and clinical trials for colorectal cancer treatment, and to quantify and mitigate the risk of colorectal cancer in their at-risk family members. This study shows the importance of broadening genetic testing criteria to include all patients with colorectal cancer, regardless of age, race/ethnicity or family history."

Additional clinical research from Invitae at ASCO

Invitae is presenting additional research at ASCO in collaboration with academic institutions and research partners that showcase the importance of genetic testing to guide cancer diagnosis and precision medicine treatment. This effort is consistent with the primary objectives of the Cancer Moonshot to reduce the death rate from cancer by 50 percent and improve the experience of people and their families living with cancer. All of the presentations highlight Invitae's commitment to improving the adoption of germline genetic testing among physicians and people living with cancer, highlighting the impact of cancer genetics on cancer patients from underserved populations, and effectively illustrating its clinical utility in improving patient care.

2022 ASCO presentations: 

  • Poster 60/Abstract 4569: Titled: Germline variants across self-reported racial populations with urothelial carcinoma (UC). Presenter: Amin Nassar, M.D. — Saturday, June 4, 2022 at 1:15 p.m. CDT.  
  • Abstract 10500: Titled: Democratizing germline genetic testing and its impact on prostate cancer clinical decision-making. Presenter: Neal D. Shore, M.D. — Monday, June 6, 2022 at 8:00 a.m. CDT.
  • Abstract 10504: Titled: Clinical implications of germline genetic testing stratified by ethnicity in a large colorectal cancer cohort. Presenter: Sarah Coughlin, M.D. —  Monday, June 6, 2022 at 8:00 a.m. CDT.
  • Poster 464/Abstract 10589: Titled: Integrated germline and somatic cancer testing provides opportunity to identify cancer risk and resolve variant origins. Presenter: King Das, M.D. — Monday, June 6, 2022 at 1:15 p.m. CDT.
  • Poster 455/Abstract 10580: Titled: Implementation of universal, pan-cancer germline genetic testing in cancer patients in Jordan. Presenter: Hikmat Abdel-Razeq, M.D. —  Monday, June 6, 2022 at 1:15 p.m. CDT.
  • Poster 463/Abstract 10588: Titled: Universal genetic testing versus guideline-directed testing for hereditary cancer syndromes among traditionally underrepresented patients in a community oncology program. Presenter: Jeremy Clifton Jones, M.D.  — Monday, June 6, 2022 at 1:15 p.m. CDT.
  • Poster 401/Abstract 10523: Titled: Germline predisposition in oncologic and dermatologic melanoma cohorts. Presenter: Pauline Funchain, M.D. — Monday, June 6, 2022 at 4:30 p.m. CDT.
  • Online Publication: Titled: Patterns and prevalence of pathogenic germline mutations using multi-gene panel testing in patients with ovarian cancer. The Jordanian Exploratory Cancer Genetics (Jo-ECAG) ovarian study. Lead Author Hikmat Abdel-Razeq, M.D. 

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

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's beliefs regarding the utility and implications of its new research; that the data from the new research demonstrate that genetic information can transform cancer care; that the data underscore the importance of genetic testing for all cancer patients; and that the research shows the importance of broadening genetic testing criteria to include all cancer patients. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the 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 March 31, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Charaighn Sesock 
(628) 213-3283

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SOURCE Invitae Corporation

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