All patients with pancreatic cancer now meet guidelines for hereditary cancer testing.

Do you have pancreatic cancer? You meet NCCN guidelines for hereditary cancer testing—regardless of your age at diagnosis or your family history. 

This week, on Wednesday, July 11, the National Comprehensive Cancer Network (NCCN) updated the Clinical Practice Guidelines in Oncology to state that all individuals with a diagnosis of pancreatic cancer meet criteria for hereditary cancer testing, including but not necessarily limited to testing of the BRCA1 and BRCA2 genes.

These updates are (perhaps somewhat confusingly) found within the Clinical Practice Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian. Mutations in the BRCA genes confer a significant increase in risk for breast and ovarian cancer and, to a lesser extent, increased risks for pancreatic, melanoma and prostate cancers.

How many people are impacted by these guideline updates?

Previously, an individual with a personal history of pancreatic cancer met testing criteria only if they also had family history of other HBOC-related cancers or Ashkenazi ancestry. Over 55,000 new cases of pancreatic cancer are estimated for 2018. All of these individuals will meet criteria for testing. 

Individuals who don’t have a personal history of cancer but who have a first- or second-degree relative (ex. father, aunt/uncle, grandparent) with pancreatic cancer also meet criteria for testing. That’s a lot of people. Ideally, hereditary cancer testing in a family is initiated for someone who has a personal diagnosis of cancer, but if the close relative with pancreatic cancer is deceased, testing for unaffected family members is sometimes the next-best option.

Why has the testing criteria expanded to include all patients with pancreatic cancer?

Two recent studies suggested that as many as 5% or even as many as 10% of patients with pancreatic cancer carry hereditary cancer mutations. In a footnote, however, the NCCN guidelines gave two major reasons for this new recommendation of trying to identify this subset of patients: 

Implications for treatment: “Increasing evidence suggests that identification of BRCA1/2 pathogenic/likely pathogenic variant may direct use of targeted therapies for patients with pancreatic cancer.” 

Benefit to family members: “Approximately 2-5% of unselected cases of pancreatic adenocarcinoma will have a BRCA1/2 pathogenic/likely pathogenic variant. However, the disease is highly lethal and the option to test the affected relative may not be available in the future. Thus, there may significant benefit to family members in testing these patients near the time of diagnosis.”

Pancreatic cancer is a particularly cruel cancer. There will be an estimated 44,000 deaths from pancreatic cancer in 2018. Only 8.5% of individuals diagnosed with pancreatic cancer live more than five years.

Why is it worth identifying other at-risk family members if there are not great screening options for pancreatic cancer?

While there are currently no screening guidelines for pancreatic cancer that are recognized to be effective, there are effective screenings and risk-reducing strategies for breast cancer, ovarian cancer, and other cancers that may be associated with hereditary pancreatic cancer. Identifying a hereditary cancer mutation in the family can be very valuable for surviving family members, making “cascade screening” possible—sorting out which family members are at high risk for developing certain cancers and which family members are at average risk for developing certain cancers. Although it may seem counterintuitive, in most cases, family members who test positive for a hereditary cancer mutation identified in an individual with pancreatic cancer will actually have a low risk of pancreatic cancer compared to their risks for other cancers (ex. breast and ovarian) for which it is possible to take steps to significantly reduce cancer risks and/or to detect and treat cancers earlier. 

Were any other important updates made to the HBOC NCCN guidelines? 

Yes! The NCCN Guidelines also expanded testing criteria for women with breast cancer. That update will be covered in the next post!

For Patients

• If you have pancreatic cancer, you now meet criteria for hereditary cancer testing—regardless of the age at which you were diagnosed or your family history. 
• Insurance coverage policies tend to follow NCCN guidelines—but it typically takes insurance policies about a year to catch up to new guidelines!
  • Getting your insurance to cover the cost of genetic testing for you may require an appeal, and testing may not be covered.
  • If your insurance will not cover the cost of genetic testing for you, relatively low-cost testing options that are still high quality are available and could be considered. Consult with a genetic counselor or another healthcare professional who is knowledgeable about the quality differences in genetic testing to make sure any testing you have ordered is highly accurate.
• Meeting with a genetic counselor can help you to understand all your options as well as the implications of any test results for you and your family members. You can schedule a telehealth cancer genetic counseling appointment online here. 
• Do you have a story to share related to pancreatic cancer and genetic testing? Check out our Patient Stories podcast. We would love to interview you and share your story.

For Healthcare Providers

• If you are caring for patients with pancreatic cancer, they should be referred to a genetic counselor and/or offered hereditary cancer testing.
  • If you have a genetic counselor within your hospital or medical practice, reach out to them to talk about when and how to refer patients with pancreatic cancer, and how you can work together better.
• Questions about a specific case? Feel free to email me with questions. I would be happy to discuss.
• Looking for more support for your practice to keep up with all the rapid changes in genetics? Check out the new Grey Genetics support packages to find the option that works best for your practice.
• Not able to hire a full-time genetic counselor for your practice but interested in covering the cost of genetic counseling for some of your patients? You can pre-pay for telehealth appointments for your patients, then just give them the booking code and let them schedule their telehealth online at their own convenience. Weekend and evening appointment times can be accommodated upon request. 

References & Further Reading:

NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2019. July 11, 2018.

Shindo K, Yu J., et al. “Deleterious Germline Mutations in Patients with Apparently Sporadic Pancreatic Adenocarcinoma.” J Clin Oncol 2017;35:3382-3390.

Holter S, Borgida A., et al. “Germline BRCA mutations in a Large Clinic-Based Cohort of Patients with Adenocarcinoma.” J Clin Oncol 2015;33:3124-3129.

Hu C, Hart S. “Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.” JAMA 2018; 319(23) 2401-2409.

Syngal S, Furniss CS. “Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis.” JAMA 2018; 319(23) 2383-2385.

Yurgelun MB, Chittenden, AB, et al. “Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected prostate cancer.” Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis.” Genetics in Medicine. July 2, 2018. (paywall) Related press release from Dana Farber.

NCCN Clinical Practice Guidelines in Oncology: Pancreatic Adenocarcinoma. Version 1.2018. April 27, 2018.

Jenkins, Kristen. “Genetic Testing in Relatives of Pancreatic Cancer Patients?” Medscape. June 21, 2018. 

“Is Pancreatic Cancer Hereditary?”  Grey Genetics News Corner. June 26, 2018.