HON 365: Ethical Issues in Science

Case Study #3 – Whose gene is it?

A 54-year old woman enters into a chemotherapeutic/radiation protocol for metastatic breast cancer. Although there is a history of breast cancer on her mother’s side, no DNA testing had been done to determine if she had mutations on BRCA-1 and BRCA-2 genes (markers indicating a high risk of breast cancer). Since she is in the end stages of the disease, she submits samples for DNA analysis to help further the research. While the testing is underway, the patient dies.

The patient has two identical twin daughters, age 27. Shortly after her mother’s death, one of the daughters requests access to the test results. She explains that she would like to learn whether she carries the same mutation that might have contributed to the breast cancer. She was informed that the laboratories would not perform the testing for mutations on an individual prior to the positive identification of a mutation on BRCA-1 and BRCA-2 in a family member affected by cancer. She desires to be tested so that if she has the mutation(s), she is considering undergoing a radical bilateral mastectomy to reduce her risk of contracting cancer later in life.

After many consultations with the head of the Institutional Review Board, the research team learns that there are no legal obstacles to this request since no legal rights of the mother would be compromised. The deceased are not research subjects under existing federal regulations. Nevertheless, the research team is concerned that divulging confidential information, even to close relative, may establish an undesired ethical precedent.

Eventually, the team decides to furnish the daughter with the test results. Learning of this, the second daughter protests that she didn’t request the information (in fact does not wish to know the results) and will obviously find out if the tests were positive for the mutation (resulting in her sister’s surgery).

Questions to ponder:

1) Who should be told? Why?

2) What are the harms of withholding the information? Of disclosing it?

3) Would it make a difference if the mother had stated her desires upfront?

4) Does the second daughter have a right not to know?

5) Should the fact that the first daughter is a twin be a consideration?