Custodianship of Genetic Information: Clinical Challenges and Professional Responsibility

Abstract

A 34-year-old patient was diagnosed with breast cancer during her second trimester of pregnancy. Her mother had died of ovarian cancer, diagnosed at age 49 years, after surviving breast cancer diagnosed at age 31 years. The patient was originally seen by genetic specialists during treatment, but opted to defer testing for possible mutation of BRCA1 or BRCA2 until a later date. Hospitalized 1 year later with rapidly progressing metastases, the patient then requested genetic testing for the future benefit of her two children, then 8 months and 5 years old. Testing revealed a deleterious mutation in the BRCA1 gene, which greatly increases the risk of developing breast and ovarian cancer in women, and is inherited in an autosomal dominant fashion. The patient died before receiving results.