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Esther’s family has been devastated by breast cancer. Her mother died three years ago following a long battle with cancer. Esther’s aunt also died from breast cancer, and Esther never knew her grandmother because she died at a young age due to cancer. It is Esther’s goal to become a doctor and work to prevent early deaths due to breast cancer. In high school Esther researched and wrote a report on the work that led to the discovery BRCA1 gene mutation involved in hereditary breast cancer. When registering for classes Esther was excited to find a first-year seminar course that provided an opportunity to obtain genetic test results from 23andMe. She eagerly took the opportunity to spit into the tube and send off for a DNA test. Esther had read about the FDA not allowing 23andMe to report health-related results to customers, but she hoped they would eventually reverse the ruling and that she could learn through 23andMe about her genetic susceptibility to breast cancer. The activities of the course made it clear to Esther that she could determine her own genotype at SNPs associated with breast cancer. One evening Esther went to SNPedia and looked at the variants in the BRCA1 gene associated with breast cancer. She was devastated to learn that she was heterozygous for a variant, rs28897696, known to greatly increase the risk of breast cancer that is more common among Hispanics.

 

Does the presence of this variant in Esther’s genome indicate that she will develop breast cancer?

What actions could Esther take based on this genetic information?

Would you want to know whether you are susceptible to developing a potentially lethal genetic disease?

 

Another student in the class, Briana, also has family members that have developed breast cancer. Briana examines each of the variants associated with breast cancer and she has none associated with an increased risk of cancer. Briana decides to download her 23andMe data and run a Promethease analysis. The report indicates that Briana does not have any of the known major risk variants for breast cancer.

Do Briana’s results indicate that she shouldn’t schedule an annual mammogram as her doctor has recommended based on her family history?

What factors beyond the specific genetic variants of a person play a role in developing a complex disease such as cancer?

Are you aware of the FDA action against 23andMe, and do think that a company should be allowed to provide information directly to customers about health risks?

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