Fails to present the nuances associated with testing for BRCA gene mutations. Focusing on a patient advocate who encourages genetic testing in those with a strong family history of breast or ovarian cancer may have helped narrative flow, but it may not have been representative of women’s experiences.
While the risks associated with developing cancer with and without a BRCA1 gene mutation were accurately presented, the story would have been vastly improved had it included:
There is no discussion of cost in this story. According to the National Cancer Institute, genetic testing for mutations in BRCA1 and BRCA2 can cost anywhere from several hundred to several thousand dollars and insurance does not always provide coverage.
The story provides information regarding the relative and absolute risks associated with developing breast and ovarian cancer in patients with and without a mutation in the BRCA1 gene. For additional perspective, it would have been useful for the reader to know how many breast cancers are associated with BRCA gene mutations in the general population.
While the story underscores how BRCA testing can lead to preventive measures to reduce the risk of developing cancer, it only mentions prophylactic surgery and not the less invasive options.
There is no discussion of the emotional or social ramifications associated with receiving genetic testing results. Even receiving a negative result could lead to feelings of guilt, especially if other family members have tested positive.
The story also fails to mention that undergoing prophylactic surgery to remove the ovaries, uterus and breast tissue can have serious effects on a woman’s health and quality of life.
This story does not include a discussion regarding sensitivity or specificity of BRCA testing. The reliability of these tests, including information on false negative and false positive results, would be beneficial.
Without providing a clear discussion on what constitutes a strong family history of breast and ovarian cancer, readers who are not necessarily candidates for genetic testing may incur undue worry. It would have also been useful for the reader to know that only a very small number of breast cancers are associated with BRCA gene mutations.
This story only provides commentary from one patient. Perspective from a genetic counselor and/or oncologist would have added value to this story, as would interviews with women who received a negative result and those who received a positive result, but dealt with the information differently.
This story only discusses prophylactic surgery as an option for patients who test positive for mutations in BRCA1 or BRCA2 genes. Increased cancer surveillance, risk reduction behaviors, and chemoprevention should have also been presented as options.
Genetic counseling services are not widely available in some geographic areas; however, this is not mentioned in the story.
The story does not suggest that genetic testing for mutations in BRCA1 and BRCA2 genes is a novel test; however, information on how long it has been available would have been useful.
There does not appear to be a press release associated with this story.
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