Case Study: Genetic Counseling for Familial Breast Cancer

In this case study, we will explore how data analytics was used to understand genetic counseling for breast cancer patients. Cancer is a complex disease that arises from genetic mutations and alterations in gene expression patterns. By analyzing gene expression data, we can identify specific genes and pathways that are dysregulated in cancer cells, which can be targeted for therapy.

This service involves providing guidance and support to individuals who have received genetic test results, helping them understand their results and make informed decisions about their health and wellbeing.

Background

Sarah is a 35-year-old woman who recently learned that her mother, grandmother, and aunt all had breast cancer. She is concerned about her own risk of developing breast cancer and wants to know if genetic testing can provide any answers. Sarah has no personal history of cancer, but she has two young daughters and is worried about passing on any genetic risk to them.

Initial Consultation

Sarah meets with a genetic counselor to discuss her concerns and learn more about genetic testing. The counselor takes a detailed medical history of Sarah and her family, including information about the types of cancer, ages of diagnosis, and any known genetic mutations. The counselor explains that based on Sarah's family history, she may be at an increased risk for developing breast cancer and that genetic testing may provide some answers.

Genetic Testing

Sarah decides to undergo genetic testing, and the counselor helps her understand the different types of tests available and what they can reveal. Sarah's test results show that she has a mutation in the BRCA1 gene, which is associated with an increased risk of breast and ovarian cancer.

Risk Assessment

The counselor explains to Sarah that having a BRCA1 mutation increases her risk of developing breast cancer by up to 80% and her risk of ovarian cancer by up to 40%. The counselor discusses different options for managing this increased risk, including increased surveillance, chemoprevention, and prophylactic surgery.

Decision-Making

The counselor helps Sarah weigh the risks and benefits of each option and considers Sarah's personal values and preferences. Sarah ultimately decides to undergo prophylactic mastectomy and oophorectomy to reduce her risk of developing breast and ovarian cancer.

Follow-up

After Sarah's surgery, the counselor provides ongoing support and follow-up care, including monitoring for any signs of recurrence or new cancer. The counselor also discusses the implications of Sarah's test results for her daughters and encourages her to talk to her family members about their own risks and options for genetic testing.

Conclusion

Genetic counseling provided Sarah with the information and support she needed to make informed decisions about managing her risk of breast and ovarian cancer. By identifying her BRCA1 mutation, Sarah was able to take proactive steps to reduce her risk and improve her chances of living a healthy and cancer-free life.

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