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Study: Patient experiences with genetic testing

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Contents

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


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.

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.  

Disclosure

FORCE receives funding from industry sponsors, including companies that manufacture cancer drugs, tests and devices. All XRAYS articles are written independently of any sponsor and are reviewed by members of our Scientific Advisory Board prior to publication to assure scientific integrity.

This article is relevant for:

Women diagnosed with early-stage breast cancer

This article is also relevant for:

people with breast cancer

people with ER/PR + cancer

people with Her2-positive cancer

people with triple negative breast cancer

people newly diagnosed with cancer

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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 had changes in the 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 () 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 breast cancer (breast cancer in both breasts)
  • Had 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, ancestry, or a family history of a mutation in a 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

Share your thoughts on this XRAYS article by taking our brief survey

Expert Guidelines
Expert Guidelines

The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:     

  • You have a blood relative who has tested positive for an  
  • You have any of the following:  
    • Breast cancer at age 50 or younger  
    • Male breast cancer at any age
    • Ovarian cancer at any age  
    • at any age 
    • Two separate breast cancer diagnoses
    • Eastern European Jewish ancestry and breast cancer at any age 
    • Lobular breast cancer and a family history of diffuse gastric cancer
    • For treatment decisions for people with breast cancer or people with early , breast cancer who are at high-risk for recurrence 
    • Testing of your tumor shows a mutation in a gene that is associated with

OR 

  • You have one or more close family members who have had:  
    • Young-onset or rare cancers 
    • Breast cancer at age 50 or younger
    • Male breast cancer, ovarian cancer, pancreatic cancer, or   cancer at any age
    • Two separate cancer diagnoses 
    • prostate cancer or  cancer that is high-risk or very-high-risk group. 

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes. 

If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert

Updated: 07/28/2023

Questions To Ask Your Doctor
Questions To Ask Your Doctor

  • 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 mutation. Should I consider expanded panel testing?
  • Can you refer me to a genetic counselor?

Open Clinical Trials
Open Clinical Trials

Below are clinical trials that include genetic counseling and testing. 

Other genetic counseling or testing studies may be found here.

 

Updated: 02/29/2024

Peer Support
Peer Support

The following organizations offer peer support services for people with, or at high risk for breast cancer:

Updated: 11/29/2022

Find Experts
Find Experts

The following resources can help you locate a genetics expert near you or via telehealth.

Finding genetics experts

  • The National Society of Genetic Counselor website has a search tool for finding a genetic counselor by specialty and location or via telehealth. 
  • InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 
  • Gene-Screen is a third party genetic counseling group that can help educate, support and order testing for patients and their families. 
  • JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
  • Grey Genetics provides access to genetic counselors who offer genetic counseling by telephone. 
  • The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors. 

Related experts

Genetics clinics

Other ways to find experts

Updated: 07/21/2023

Who covered this study?

NPR

Women with breast cancer miss out on recommended genetic testing This article rates 4.5 out of 5 stars

Daily Mail

Genetic testing often overlooked for cancer risk women: study This article rates 3.5 out of 5 stars

Medpage Today

Also published in:

 

 

 

Most women with breast cancer did not get genetic testing This article rates 3.0 out of 5 stars

How we rated the media

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