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Patient experiences with genetic testing


This research is relevant for:

Unhecked Breast cancer survivors

Unhecked Women under 45

Unhecked Women over 45

Unhecked Men with breast cancer

Unhecked Metastatic breast cancer

Unhecked Triple negative breast cancer

Unhecked Previvors

Unhecked BRCA mutation carriers

Unhecked ER/PR +

Unhecked Her2+ breast cancer

Checked Special populations: women who are interested in genetic counseling and testing; women who are at high risk of carrying a gene mutation that increases cancer risk

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Patients can now find out if they have a mutation in more than 20 different genes that are associated with cancer risk, thanks to research advances and the decreasing cost of genetic testing. However, patients’ experiences and use of genetic counseling and testing with these changes are unknown. Do patients want genetic testing? Are they getting tested? (3/7/17)


STUDY AT A GLANCE

This study is about:

Understanding breast cancer patients’ experiences with genetic counseling and genetic testing.

Why is this study important?

Because of new technology, genetic testing has now become more affordable and easier than ever. Panel testing allows for simultaneous testing of multiple genes from each patient. However, not much is known about patients’ experiences with genetic testing and counseling now that they can have more genes tested at a lower cost. 

Study findings: 

  1. Among women who were diagnosed with breast cancer and were at high risk (determined through various criteria including personal and family history of cancer) for carrying a gene mutation that increases cancer risk:
    • about 81% wanted genetic testing
    • about 71% talked about testing with a doctor or other health professional
    • about 40% had genetic counseling
    • about 53% were tested.
  2. About 62% of patients who were at high risk for carrying a gene mutation that increases cancer risk and were tested had a session with a genetic counseling expert.
  3. About 56% of patients who were at high risk for carrying a gene mutation that increases cancer risk were not tested, reporting that, “my doctor didn’t recommend it.” 

What does this mean for me?

This study suggests that patients diagnosed with breast cancer want genetic counseling and testing, but due to various reasons, not all patients who meet national guidelines for genetics evaluation are getting these recommended high-risk services. More work is needed to assure that all breast cancer patients who meet national guidelines and want genetic testing have access. In the meantime, breast cancer patients should talk to their health care providers about genetic counseling and testing if they have one or more of the following:

  • breast cancer before age 50
  • triple-negative breast cancer before age 60
  • two or more separate breast cancer diagnosis (either in the same breast or in different breasts)
  • Ashkenazi Jewish heritage
  • a family history of breast cancer diagnosed before age 50, ovarian cancer, or male breast cancer

Questions to ask your health care provider:

  • What is genetic testing?
  • What happens during a genetic counseling session?
  • Why do I need genetic counseling?
  • How can I tell if cancer runs in my family?
  • I had breast cancer before age 50 and I have a strong family history of cancer, but I tested negative for a BRCA mutation. Should I consider expanded panel testing?

IN DEPTH REVIEW OF RESEARCH

Study background:

Genetic testing is becoming increasingly available and more affordable. In the past few years, panel tests identifying mutations in multiple genes that increase a person’s risk for cancer have become widely available. Twenty years ago, genetic testing only identified whether an individual’s DNA had changes in the BRCA genes. Now, panel testing simultaneously searches for mutations in more than 20 different genes that are associated with increased cancer risk.  This study looks at breast cancer patients’ experiences with genetic testing in this new environment.

Allison Kurian and colleagues from Stanford University and other institutions published work in the Journal of the American Medical Association in February 2017; they collected data on breast cancer patient preferences and experiences with genetic testing.

Researchers of this study wanted to know:

What are breast cancer patients’ experiences with genetic counseling and testing?   

Population(s) looked at in the study:

The study included 2,529 women between the ages of 20 and 79 who were diagnosed with stages 0-II breast cancer between July 2013 and September 2014. These women were identified from the Surveillance Epidemiology and End Results (SEER) data registries from Georgia and Los Angeles County.

Women in the study were mailed surveys that questioned them about:

  • how much they wanted genetic testing
  • whether they talked about genetic testing with any “doctor or other health professional”
  • whether they had a session with a genetic counseling expert
  • whether they had genetic testing

Women from this population were categorized as high risk for carrying a mutation in a gene that increases cancer risk if they met one or more of the following criteria:

  • Were under 45 years old at breast cancer diagnosis
  • Had bilateral breast cancer (breast cancer in both breasts)
  • Had triple-negative breast cancer diagnosed at 60 years old or younger
  • Had a relative with ovarian cancer, sarcoma, or male breast cancer
  • Had 2 or more first-degree relatives with breast cancer
  • For patients who were diagnosed at age 50 or younger, those who were classified as high risk or had 1 or more first-degree relatives with breast cancer, Ashkenazi Jewish ancestry, or a family history of a mutation in a BRCA gene or other gene that increases cancer risk

All other women were classified as having an average risk of carrying a mutation in a cancer risk-increasing gene.

Study findings: 

  1. 31% of the total study population were classified as being at high risk for carrying a gene mutation associated with increased cancer risk.
  2. Among women who were diagnosed with breast cancer and were at high risk for carrying a gene mutation associated with increased cancer risk:
    • about 81% wanted genetic testing
    • about 71% talked about testing with a doctor or other health professional
    • about 40% had a session with a genetic counseling expert
    • about 53% had genetic testing.
  3. Among women who were diagnosed with breast cancer, had a high risk for carrying a gene mutation associated with increased cancer risk, and were tested:
    • about 62% had a session with a genetic counseling expert.
  4. Patients who were at high risk for carrying a gene mutation associated with increased cancer risk reported that they did not pursue testing because:
    • “my doctor didn’t recommend it” (about 56%)
    • “too expensive” (about 14%)
    • “I did not want it” (about 11%)

Individuals who were older or of Asian ethnicity were less likely to have genetic testing.

Limitations:

Because this study used self-reported survey results, the chance for error and bias exists. Additionally, only patients from Georgia and Los Angeles County were included in this study, so it is unknown if the results can be generalized more broadly. Finally, for the reasons why genetic testing was not pursued, this study only included the patient perspective and did not get the perspective from the healthcare provider.                         

Conclusions:

This study suggests that patients want genetic counseling and testing, but various reasons keep many of them from getting these services. Only 53% of women from this study who were at high risk for carrying a mutation in a gene associated with increased cancer risk had genetic testing. Also of note: only 40% of women at high risk for having a mutation had genetic counseling. More work needs to be done to understand why this occurs and how access to genetic counseling and testing can be improved. Meanwhile, patients who are concerned about carrying a mutation in a gene that increases cancer risk should talk to their healthcare providers and/or a genetics expert.

Posted 3/7/17

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References

Kurian AW, Griffith KA, Hamilton AS, et al. “Genetic testing and counseling among patients with newly diagnosed breast cancer.” Journal of the American Medical Association. 2017; 317(5): 531-534.  

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