FORCE's eXamining the Relevance of Articles for You (XRAY) program looks behind the headlines of cancer news to help you understand what the research means for you.
XRAY is a reliable source of hereditary cancer research-related news and information.
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Categories Genetic Testing
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Study identifies genes associated with risk of triple-negative breast cancer
Most relevant for: People diagnosed with triple-negative breast cancer
Panel testing can identify women who are at increased risk for breast cancer. However, those at risk for triple-negative breast cancer cannot easily be identified because other than BRCA1, genes that increase the risk for triple-negative breast cancer are unknown. A new study uses panel testing to identify which genes increase the risk for triple-negative breast cancer. (8/23/18)
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Relevance: Medium
Strength of Science: Medium
Research Timeline: Human Research
Study : Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations
Most relevant for: People who are considering or have had direct-to-consumer testing
A clinical genetic testing laboratory examined results from direct-to-consumer genetic testing ordered directly by patients. They found many instances of false positives—reported mutations that were not actually present—and in some cases, reports of variants that "increased risk," but were actually benign. This study emphasized the importance of involving genetics experts in the interpretation of genetic test results. (6/28/18)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Human Research
Study : Mutations in Lynch syndrome genes MSH6 and PMS2 may be associated with breast cancer
Most relevant for: Women with an MSH6 or PMS2 mutation
Some women with mutations in MSH6 and PMS2, two Lynch syndrome genes, may have a modest (2 to 3-fold) increased risk for breast cancer. (6/14/18 updated 09/25/19)
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Article : The right not to know when not knowing is dangerous
Most relevant for: People with Icelandic heritage
Healthcare providers are bound by the guiding principle of doing no harm. But how does this concept apply to their patients who have not consented to genetic testing or who do not want to know their results? In that case, is providing test results more harmful or not? Anna Clausen explores these issues in the context of breast cancer gene testing in her Global Health Now article “The Right Not to Know: When Ignorance is Bliss but Deadly.” (4/20/18)
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Relevance: Medium-High
Strength of Science: Medium
Study : Take your time, follow your heart: strategies for communication about family planning
Most relevant for: Young high risk women
When a woman is newly diagnosed with a BRCA mutation, she faces many risk management decisions. Although many of these decisions impact family planning, little guidance is available on how to communicate this information. This study examines female previvors’ advice on effective strategies for discussing family planning decisions. (03/28/18)
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Update : FDA approves at-home test kits for inherited cancer: how useful are they?
Most relevant for: People who are considering or have had direct-to-consumer testing through 23andMe
Genetic testing for health conditions (such as risk for cancer) typically requires a prescription from a doctor. Until recently, direct-to-consumer (DTC) genetic testing has focused on tests to learn your ancestry and find of unknown branches of family trees. A laboratory called 23andMe that provides direct-to-consumer genetic testing has been given FDA approval to report results for 3 mutations found in the BRCA1 and BRCA2 genes. The FDA statement provides details about this approval and warns people about the limitations of the 23andMe test. (03/19/18)
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Relevance: Medium-High
Quality of Writing: Medium
Article : Insurance companies are more than curious about your genetic test results
Most relevant for: People considering testing for an inherited gene mutation
An article on CBSNews.com addressed why insurance companies, particularly long-term insurance companies, might want to know which of their policy holders and potential policy holders have a gene that raises their risk for cancer. The article discusses genetic discrimination by insurance companies that provide long term care policies. Federal laws protect people with gene mutations from discrimination in health insurance. No such federal laws exist for life insurance, disability insurance or long term care. (3/13/18)
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Study : Survival and mutation status in breast cancer patients under age 40
Most relevant for: Young breast cancer patients
Studies have found conflicting rates of survival for BRCA mutation carriers who develop breast cancer, reporting better, worse and similar outcomes compared to patients with sporadic breast cancer. New results of the large Prospective Outcomes in Sporadic versus Hereditary (POSH) breast cancer study found no difference in survival rates between the two groups. The study also concluded that among young triple-negative breast cancer patients during the first 2 years after diagnosis, BRCA mutation carriers had an initial survival advantage compared to women without a BRCA mutation. (02/15/18)
Relevance: Medium-Low
Strength of Science: Medium-Low
Research Timeline: Human Research
Study : No new high-risk breast cancer genes here
Most relevant for: People with a family history of breast cancer but no known inherited mutation
While some of the genes that cause hereditary breast cancer are known (for example, inherited mutations in genes like BRCA, ATM and PALB2), others remain unidentified. Two studies found 72 DNA changes (also known as “variants” or “SNPs”) that affect breast cancer risk. These variants are different from mutations in genes that dramatically increase cancer risk. Most of these new variants are located outside of the portion of DNA that is used to make proteins. Further research is needed on these new variants before they can be used by doctors to help people understand and manage their risk for cancer. (1/12/18)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Genetic counseling by phone or face-to-face
Most relevant for: People referred to a genetic counselor or those considering genetic testing
Results presented at the 2017 American Psychological Association’s annual meeting showed genetic counseling by telephone is as “safe and effective” in long-term psychological and social outcomes compared to traditional in-person counseling for women at risk for hereditary breast and ovarian cancer. This presentation is an update on research published in 2014. (11/29/17)
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