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Should you get genetic testing for cancer?

New genetics counselor at HCC weighs in on the options

DNA Strand
Genetic testing is a hot topic right now but it is complicated and not for everyone.
Dawn Brazell | brazell@musc.edu | July 13, 2018

With recent advances in genetic testing, the pressing question for many people with a history of cancer in their family is whether to pursue testing.

That’s one reason Sarah Pass, a certified genetic counselor, is joining MUSC Hollings Cancer Center to help patients navigate what can be a complicated process. She come from MD Anderson Cancer Center in Houston, Texas, where she ran The Woodlands and Lyndon B. Johnson regional clinics. She has a  master’s degree in human genetics and genetic counseling from the Emory University Genetic Counseling Training Program and says she loves helping people avoid a cancer diagnosis through prevention if possible.

The following is a Q&A that explores trends and common questions in her field.

Q: Why is this hot topic now?

After the Supreme Court’s ruling in 2012 outlawing testing companies’ ability to patent genes, more testing laboratories have been able to join the market. Due to this competition in the market, the cost of genetic testing has come down to a reasonable price. Also, since we now have more research to prove what cancers go with specific genes, and we now have national guidelines on how to screen patients with specific genetic mutations, doctors can make meaningful recommendations for patients. With a combination of lower costs and clear guidelines for patients, genetics testing has become a key component in cancer care.

Q: What are new trends in genetic testing?

The genetics field is constantly changing and growing, and often very quickly. In 2012, patients were generally tested for only a few genes that they met criteria for. In 2014-2015, gene panels (where multiple genes are tested at once) started coming into play, but weren’t always regularly used. Now, almost all patients get tested with panels. While this method allows the patient to learn as much information as they choose, it can also cause patients to find out things they never thought about. Many of these panels include genes that don’t correlate with the patient’s family history, but can still have actionable recommendations if a mutation is found. For example, a patient with a family history of breast cancer could come back with a mutation in a gene that increases the risk for colon cancer.  This is considered an incidental finding and can lead to difficulty interpreting what the result really means for the patient and their family. All this development in technology and the knowledge we can learn from it is exciting and could lead us in many different directions. However, nothing trumps the knowledge we gain from taking a simple family history.

Sarah Pass

Genetic counselor Sarah Pass joined Hollings Cancer Center to guide patients in weighing their genetic testing options and results

Q: What does a genetic counselor at a cancer center do?

A genetic counselor is a medical professional who has a master’s degree in genetic counseling from an accredited program. This specialized training helps genetic counselors interpret confusing, uncertain, and positive test results, educate patients and/or providers on genetic testing options and assist patients and their families in understanding genetic disorders.

Cancer genetic counselors specialize in counseling about inherited cancer syndromes, the patient’s chances of having an inherited susceptibility to cancer and the implications of their genetic results on their risk for cancer. During a genetic counseling session, the counselor takes a detailed three-generation pedigree, discusses risk management and genetic testing options for patients and consents patients for genetic testing when applicable.

Q: Who should consider seeking out this service?

Anyone can consider genetic counseling and testing. However, the individuals who should really consider seeing a genetic counselor for a risk assessment are those who have signs of hereditary cancer syndromes in their family. These signs include:
• Cancer diagnosed at a younger age than the general population (generally age 50)
• Having multiple people on the same side of the family with the same or related cancers
• Individuals with multiple cancer diagnoses
• Individuals who have tumor testing that indicates they may have a genetic mutation
• Individuals who come from high risk ancestries
• Individuals with a known mutation in the family 

There are known hereditary cancer features based on different kinds of cancer, and there’s a chart to help people know if they are at risk.

Any individuals who have questions, are unsure if they meet criteria or just want to discuss their options may always request a genetic appointment to discuss if genetic testing is the right option for them.

Q: Some people just want genetic testing. Why do they need to see a genetic counselor?

Genetic testing is complicated and not for everyone. The genetic counselor is there to help patients understand their options and make sure that genetic testing is right for them. The genetic counselor will go over possible results, benefits, risks and limitations of the testing. They will also discuss cost, insurance coverage and issues of genetic discrimination.

Q: What drew you to this field?

I became a genetic counselor because I wanted a profession that allowed me to combine my love of genetics and education. I chose to go into the cancer field because I wanted to be able to help patients and their families understand their risks so that we can take steps to prevent future cancer or detect it at earlier stages when it is more easily treated. Most cancer patients state that they never want their children to ever go through what they are going through, and my job allows me to help them in their effort.

Q: How did you end up at Hollings Cancer Center?

While I loved my time at MD Anderson Cancer Center, I felt like it was time for a change. Hollings Cancer Center is a unique opportunity. While there has been genetic counseling in the past, I hope to expand our service to its greatest potential. With the support of the other staff, administration and providers, I think there is a real opportunity to create a great cancer genetics program that could make Hollings Cancer Center and MUSC a top destination for cancer care.


Hereditary Cancer Features by Cancer Site

Breast and Ovarian Cancer

  • Breast cancer diagnosed ≤ 50 years old
  • Male breast cancer
  • Triple negative breast cancer diagnosed ≤ 60 years old
  • Ovarian cancer
  • Three or more individuals with breast, pancreatic and/or prostate cancer on the same side of the family
  • A known mutation in the family

More Rare Cancers

  • Paragangliomas/pheochromoscytomas
  • Adrenocortical carcinomas
  • Kidney cancer diagnosed ≤ 50 or any chromophobe kidney cancer
  • Medullary thyroid cancer
  • Lhermitte duclose disease diagnosed >30
  • Osteosarcoma diagnosed ≤ 50
  • Multiple spontaneous pneumothoraxes
  • Hemangioblastomas of the brain, spine, or retina

Prostate cancer

  • Metastatic or high-grade prostate cancer (Gleason score ≥7)

Colon Cancer

  • Colorectal cancer diagnosed ≤ 50 years old
  • Endometrial (uterine) cancer diagnosed ≤ 50 years old
  • 10 or more colon adenomatous polyps
  • MSI-high or abnormal IHC tumor testing
  • Three or more related cancers on the same side of the family:
    • Colon cancer
    • Endometrial cancer
    • Gastric cancer
    • Ovarian cancer
    • Ureter/renal pelvis
    • Biliary tract
    • Small bowel
    • Pancreatic
    • Sebaceous adenoma
    • Brain tumors

New home cancer testing option concerns specialist (HCC News, March 14, 2018)

Cancer geneticist, advocate honored with WSI Eminent Scholar Award (HCC News, March 31, 2017)


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