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Study argues for broader genetic testing of cancer patients

January 14, 2021

Lab sample in petri dish

Cancer patients would benefit from blanket genetic testing, but half of inherited cancer-related gene mutations may go undetected under current “strict clinical practice [testing] guidelines,” as noted in Mayo Clinic’s new research published in JAMA Oncology.

Detecting inherited cancer-related gene mutations would result in modified treatment in many of the cases and could help families better address hereditary risk, researchers say.


In the research, scientists genetically tested roughly 3,000 cancer patients, many of whom wouldn’t have normally been tested. The researchers concluded that that:

  • roughly 1 in 8 of the patients had an inherited cancer-related gene mutation associated with the development of their disease;
  • the mutation would have been undetected in half of those patients under standard guidelines for genetic testing, which leave many untested; and
  • detection of an inherited cancer-related mutation prompted clinicians to modify (and presumably improve) treatment in one-third of the patients with the highest-risk cancer genes. “This targeted treatment would have been lost if patients had not received genetic testing,” said study author Nimoy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and hepatologist.

Diagnosis affects families

There are also implications for patients’ relatives.

“Genetic testing is underutilized in cancer care, both for patients and for their families, often due to outdated guidelines that restrict testing to a narrow group of high-risk patients,” said Dr. Robert Nussbaum, M.D., chief medical officer of Invitae Corporation and a contributing author to the study. “All cancer patients should have access to complete genetic information that can guide their care and inform their families’ health.”

Dr. Samadder noted that, with discovery of an inherited cancer-related gene mutation in a family member, “we can target prevention strategies of those high-risk individuals and hopefully prevent cancer altogether in future generations of their family.”

The project, representing the largest known multicenter study of universal testing of patients with cancer, included a broad mix of cancer stages and types, including breast, colorectal, lung, ovarian, pancreatic, bladder, prostate and endometrial cancers.

Given the findings, “steps are being taken to ensure all patients are offered genomic sequencing to better understand the genes that led to the development of their cancer and how to precisely target treatment and improve survival,” Dr. Samadder said.

Human biospecimens for cancer researchers

We at iSpecimen are committed to helping the medical community advance the practice of cancer prevention, detection and treatment as well as genetic sequencing and precision medicine. Crucial data very often originates in the human biospecimens we provide to the research community, including blood, tumor tissue and healthy adjacent tissue.

Genetic testing has a valuable role in the analysis of specimen data. We look forward to contributing to its expanded practice in the future.

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