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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Relevant for: previvors, In portal: Ovarian Cancer
Relevance: Medium
Strength of Science: Medium
Research Timeline: Human Research
Study : Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations
Relevance: Medium
Strength of Science: Medium
Research Timeline: Human Research
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
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Human Research
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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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
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Genetic counseling by phone or face-to-face
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
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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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
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
Relevance: Medium-High
Quality of Writing: High
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: High
Strength of Science: High
Research Timeline: Post Approval
Study : New cancer risk estimates for BRCA1/2 mutation carriers
Relevance: High
Strength of Science: High
Research Timeline: Post Approval
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 : 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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