Study: Patient experiences with genetic testing


This article is most relevant for:
Women diagnosed with early-stage breast cancer

This article is also relevant for:

Checked Breast cancer survivors

Checked ER/PR +

Checked Her2+ breast cancer

Checked Triple negative breast cancer

Checked Women under 45

Checked Women over 45

Checked Newly diagnosed

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)

Contents

At a glance                  Guidelines
Findings               In-depth                
Clinical trials Limitations
Questions for your doctor Resources and references


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

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Expert Guidelines

The National Comprehensive Cancer Network is a consortium of experts in cancer and genetics. They publish consensus guidelines for genetic testing for inherited mutations that increase cancer risk. Their guidelines for genetic testing for people diagnosed with breast cancer include:

  • breast cancer of any type (including ductal carcinoma in situ or DCIS) diagnosed before age 50 
  • breast cancer in both breasts or a second breast cancer in the same breast
  • triple-negative (ER-/PR-/Her2-) breast cancer before age 60
  • Ashkenazi (Eastern European) Jewish ethnicity
  • relatives with breast, ovarian, pancreatic, prostate or melanoma cancer
  • men with breast cancer

For people with HER2-negative, metastatic breast cancer, NCCN recommends BRCA testing before starting on chemotherapy to see if there may be benefit from treatment with a PARP inhibitor.

According to NCCN, cancer risk assessment and genetic counseling is highly recommended before genetic testing is offered (pre-test counseling) and after results are disclosed (post-test counseling). A genetic counselor, medical geneticist, oncologist, surgeon, oncology nurse, or other health professional with expertise and experience in cancer genetics should be involved early in the counseling of patients.

Questions To Ask Your Health Care Provider

  • Should I have genetic testing? 
  • 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?
  • Can you refer me to a genetic counselor?

Open Clinical Trials

  • NCT03470402: Decision Support for BRCA Testing in Ethnically Diverse Women. The objective of this study is to expand genetic testing for hereditary breast and ovarian cancer syndrome to a broader population of high-risk women by prompting appropriate referrals from the primary care setting with the use of an electronic health record-embedded breast cancer risk navigation (BNAV) tool. 
  • NCT03511690:Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment. Participating in genetic cancer risk assessments (GCRA) for hereditary breast and ovarian cancer can inform treatment and risk management decisions and improve breast cancer outcomes. However, Latina and Black women underuse GCRA services, which may increase breast cancer disparities. This study will adapt and test the impact of an easily scalable novel Intelligent Tutoring System intervention to enhance GCRA use and improve psychosocial outcomes in a clinical sample of underserved Latina and Black women at-risk of hereditary breast and ovarian cancer.
 

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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