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The Benefits of Genetic Testing for Cancer Survivors

By Ellen T. Matloff, MS, CGC
PUBLISHED THURSDAY, JANUARY 1, 1970
Ellen T. Matloff

Ellen T. Matloff, MS, CGC
Certified genetic counselor and director of Cancer Genetic Counseling at Yale Cancer Center, New Haven, Connecticut

Genetic counseling and testing is a relatively new discipline now widely integrated into clinical practice. Newly diagnosed patients at increased risk for hereditary cancer are routinely offered these services, and most providers understand the usefulness of these new tools in surveillance and treatment. But what about a 70-year-old woman diagnosed with breast cancer 30 years ago? Or a 50-year-old man diagnosed with colon cancer 20 years ago? Or even a 60-year-old woman diagnosed with a triple-negative breast cancer 5 years ago, before we understood its association with hereditary cancer syndromes?

Should the clinician discuss genetic options with cancer survivors?

Absolutely. This information may be critical in helping the survivor avoid a second primary cancer. Equally as important (especially for elderly and critically ill patients), this information may help prevent family members from developing cancer. As oncology providers know well, the risk to other family members is of utmost concern to many cancer survivors.

When should this information be discussed?

As soon as the clinician learns that the conversation is relevant. This is sometimes months, years, or decades after diagnosis, because the field of genetics is evolving rapidly, and referral guidelines are changing all the time. Sometimes, the family history of cancer emerges many years after the initial patient is diagnosed, and the patient (and clinician) later become aware of a family history of cancer. Other times, the patient changes providers, and the new clinician realizes that a referral for genetic counseling and testing was never initiated.

Preferably, the issue of genetic counseling and testing should be raised when the cancer survivor is in a steady place in treatment or survivorship. However, not all cancer patients reach stable ground, and the opportunity to at least bank their DNA should not be missed. Too often these conversations are deferred until the patient reaches hospice or is critically ill; this is less than ideal for the patient, the family, and the provider. At this point, the patient may no longer qualify for insurance coverage for genetic testing, accruing steep additional expenses for the family who may have to pay out of pocket.

Who Is at Increased Risk for Hereditary Cancer?

Any patient with a personal and/or family history that includes any of the following:
  • Early-onset cancer (age <45 years for breast cancer and <50 years for colon or uterine cancer)
  • Multiple family members in the same bloodline with the same type of cancer
  • Related cancers within one bloodline (eg, breast/ovarian/ pancreas or colon/uterine/ovarian/sebaceous adenomas or carcinomas or melanoma/pancreas)
  • Jewish ancestry + breast, ovarian, and/or pancreatic cancer
  • Male breast cancer
  • Multiple primary malignancies in one person (eg, breast and ovarian cancer; colon and uterine cancer).
  • A pathologic subtype of cancer (eg, triple-negative breast cancer diagnosed <60 years of age; medullary breast cancer; adrenocortical carcinoma <40 years) that is known to be overrepresented in hereditary cancer families

Who should discuss this information with the cancer survivor?

It is helpful if a clinician with a strong personal connection to the patient raises the issue of genetic counseling and testing. In the world of cancer survivorship, this clinician is often the oncology nurse.

The oncology nurse frequently has a close, long-term relationship with cancer survivors and their families, and thus may be aware of extended family history information that will help determine if that patient is a candidate for genetic referral. The oncology nurse may also be able to help identify which family members are likely to benefit from this information.

What are the barriers to discussing this information with cancer survivors?

Clinicians are sometimes reluctant to raise a new issue with a patient who feels that cancer is in his or her “outbox.” These well-meaning clinicians may assume that presenting the option of genetic counseling and testing will upset the patient. This is sometimes true, but in other cases, patients are thrilled to learn that they might offer their family members new strategies that may avoid an advanced cancer diagnosis.

Common Survivor Questions About Genetic Testing

Q: Why would I want genetic testing now? I’ve already had cancer.
A:
Genetic counseling and testing could provide you with information that could help you avoid developing a second primary cancer. This information could also help your family members avoid the development of an advanced cancer.

Q: Why are you bringing this up now? I was diagnosed years ago.
A:
Genetics is a rapidly evolving specialty, and referral guidelines and options are changing all the time. These options may not have been available when you were diagnosed.

Q: Would my insurance cover these charges this many years later?
A:
Many insurance plans cover counseling and testing for patients who need these services. Benefits are generally not time-limited.
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