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Categories Genetic Testing
Article : Preimplantation genetic diagnosis and hereditary cancer
Most relevant for: people with an inherited mutation linked to cancer risk
Andrew Joseph’s piece for STAT, “A baby with a disease gene or no baby at all: Genetic testing of embryos creates an ethical morass,” focuses on preimplantation genetic diagnosis (PGD) and the emerging ethical issue in the field of reproductive medicine: What to do when patients seeking to get pregnant select embryos with DNA that could lead to a disease or a disability. (11/8/17)
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Article : Mixed reviews of at-home genetic testing
Most relevant for: People who are considering or have had direct-to-consumer testing
National guidelines recommend that patients meet with a genetics expert before undergoing genetic testing for cancer risk. Genetic counseling can help patients decide whether genetic testing is right for them and order the most appropriate test. Once test results are available, genetics experts also help patients understand their results. Over the last decade, the popularity of direct-to-consumer (DTC) genetic testing, such as 23andMe has grown. Some genetic tests are marketed to consumers on television, in print advertisements, and on the Internet. These “at-home” genetic tests give people direct access to their genetic information without first involving a healthcare provider in the process. A recent report outlines the benefits and limitations of DTC genetic testing. (10/20/17)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Does expanded genetic testing benefit Jewish women diagnosed with breast cancer?
Most relevant for: Jewish women with breast cancer who previously tested negative for the three most common BRCA mutations
BRCA1 and BRCA2 mutations are common in people of Eastern European (Ashkenazi) Jewish descent. About 2% of all Ashkenazi Jewish people will test positive for one of three common mutations in these genes. Genetic testing for Jewish people sometimes focuses on only the three most common mutations. For Jewish women with breast cancer, little is known about their chance of carrying a different hereditary mutation that may increase risk. This study looked at expanded genetic testing in Jewish women diagnosed with breast cancer to learn how often they carried mutations other than the three most common BRCA gene mutations found in Ashkenazi Jewish people. (09/13/17)
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Relevance: Medium-High
Quality of Writing: High
Article : Parents face challenges when deciding the best time to tell children that they may be at high risk for cancer
Most relevant for: Parents who have an inherited gene mutation
When certain types of cancers run in families, genetic testing can determine whether the cause is hereditary. Genetic testing can help family members understand their cancer risk and make medical decisions to stay healthy. A test result can provide significant insight, but it also creates challenges for parents, because gene mutations that cause hereditary cancers can be passed from mothers and fathers to sons and daughters. People with these mutations must make difficult decisions about when to tell their children that they too may have inherited the mutation. (8/22/2017)
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Relevance: Medium-Low
Strength of Science: Medium-Low
Research Timeline: Animal Studies
Article : Report on vaccines to prevent hereditary cancer
Most relevant for: High risk women who have not had breast cancer
On 05/30/2017, Good Morning America aired a segment entitled “Can a vaccine help prevent breast cancer at its earliest stages?” The story outlines the need for cancer prevention and hints at early research into a cancer vaccine. (8/1/17)
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Relevance: High
Strength of Science: High
Research Timeline: Post Approval
Study : New cancer risk estimates for BRCA1/2 mutation carriers
Most relevant for: Women with an inherited mutation in BRCA1 or BRCA2
Cancer risk estimates for BRCA1 and BRCA2 mutation carriers are important because they impact patient decision-making. Until now, almost all risk estimates for mutation carriers were based on results of retrospective studies that looked back on mutation carriers who had cancer. This new study is prospective—it followed almost 10,000 BRCA mutation carriers without cancer to see if or when they developed breast or ovarian cancer. The cancer risk estimates of this study may be more accurate because it followed mutation carriers who did not have cancer over time. (7/28/17)
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Study : Gaps in genetic testing and decision-making for women with early-stage breast cancer
Most relevant for: People diagnosed with early stage breast cancer
Genetic testing for cancer risk is now more affordable and easier to obtain. As a result, many breast cancer patients are tested without ever seeing a genetic counselor. Genetic testing results affect treatment decision making, but they can be confusing, especially if patients do not receive genetic counseling. This study looks at breast cancer patients’ experiences following genetic testing and how testing results affect surgical decision making. (7/14/17)
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Relevance: High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Patient experiences with genetic testing
Most relevant for: Women diagnosed with early-stage breast cancer
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)
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Study : Angelina Jolie spoke out on BRCA testing: Did genetic testing increase?
Most relevant for: People interested in genetic testing for an inherited mutation
Angelina Jolie published an editorial in the New York Times in 2013 about her choice to have a double mastectomy after finding out she was positive for a BRCA1 mutation. Researchers from a recent study claim that her celebrity endorsement of BRCA testing may have missed its target audience (previvors), due to the increase in BRCA testing following publication of the editorial but a decrease in the number of mastectomies performed. However, the study failed to take into account that many women without breast cancer do not pursue mastectomy in the months following genetic testing. (1/4/17)
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Personal Story : Why one woman passed on genetic testing
Most relevant for: People considering genetic testing and people who are Ashkenazi Jewish
What are reasons to get or not get genetic testing? Cynthia Graber gives her thoughts on the matter in her Wired opinion piece, "Why I Won't Get the Genetic Test for Breast Cancer." (11/15/16)
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