Genetic Testing Could Benefit Patients with Pancreatic Cancer

When you think about genetic testing, what first comes to mind? Is it pancreatic cancer? While this might not be the first thing you consider, a new study suggests that genetic testing for patients with pancreatic cancer could ultimately benefit them in terms of treatment and outcomes. In a press release, medical genetics company Invitae announced study data on genetic changes in pancreatic cancer. The findings, presented at the National Society of Genetic Counselors (NSGC) 39th Annual Conference, highlights a potentially new treatment route.

Genetic Testing

During the NSGC Virtual Annual Conference, Invitae shared insight from their research. Within their study, which enrolled more than 2,000 patients, researchers determined that many patients experienced genetic alterations related to their cancer. Typically, some testing criteria is based on family history. Yet around 15% of patients who had genetic variants did not have any family history of cancer – pancreatic or otherwise. The study also determined how cost can be a barrier to receiving genetic testing, particularly for minority communities.

According to the Mayo Clinic, genetic testing:

involves examining your DNA, the chemical database that carries instructions for your body’s functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.

Currently, guidelines from the National Comprehensive Cancer Network (NCCN) suggest that all patients with pancreatic cancer, as well as all first degree relatives, should receive genetic testing and genetic counseling.

Invitae Presentations

Through Invitae’s presentations, the company covered the following:

  • It should be common practice to screen potential carriers for X-linked genetic conditions.
  • Approximately 9% of patients with pancreatic cancer experienced DNA damage repair gene mutations. With testing, researchers were able to identify these patients. If patients have these mutations, they become eligible for clinical trials and PARP inhibitor therapy. Thus, it is necessary to normalize genetic testing for these patients to ensure better treatment and health options.
  • Refining phenotypic criteria in ACMG guidelines would better inform research and improve patient outcomes.
  • Increasing access to genetic testing for patients with pancreatic condition, regardless of background or ethnicity, will ultimately benefit patients on a wider scale.

Finally, two presentations covered variant reclassification in carrier screenings, and using gremlin multigenerational panels to guide treatment for patients with breast cancer.

Pancreatic Cancer

Overall, pancreatic cancer is a type of cancer which forms in the pancreas, an organ which sits behind the lower part of your stomach. Normally, the pancreas contributes to food digestion and blood sugar management. Abnormal cell mutations cause this type of cancer. There are multiple subtypes of pancreatic cancer, including pancreatic neuroendocrine tumors and pancreatic adenocarcinoma. Risk factors include age (45+), smoking tobacco, family history, and obesity. Symptoms include:

  • Diabetes
  • Depression and anxiety
  • Unintended weight loss
  • Jaundice (yellowing of the skin and eyes)
  • Appetite loss
  • Abdominal and back pain
  • Fatigue
  • Itchy skin
  • Dark-colored urine and light stool
  • Blood clots
  • Obstructed bowel
  • Bloating

Learn more about pancreatic cancer.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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