Genetics Case Cathy and Andre Thompson are parents to Alexis, who has Fanconi amenia, an autosomal recessive genetic condition that causes bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. At age seven, Alexis is smaller than other children her ag

Genetics Case

Cathy and Andre Thompson are parents to Alexis, who has Fanconi amenia, an autosomal recessive genetic condition that causes bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. At age seven, Alexis is smaller than other children her age, although she is very smart. Her care is managed by many different doctors, and she has had several bouts of pancytopenia, a sign of bone marrow failure. Her parents are increasingly worried about her health and want the best for her.

Dr. Kasie Marshall, Alexis’ hematologist, suggests to Cathy and Andre that they should consider bone marrow transplant. The success rate is approximately 90% when done at her age, and it can substantially decrease the risk for aplastic anemia, myelodysplastic syndrome, and acute leukemia. However, even if the match is successful, she will still face risks for infection and solid tumors. Unfortunately, neither parent is an ideal HLA match, and the bone marrow registry doesn’t offer much hope. In 2008, 40 percent of Whites who didn’t have a bone marrow match in their own family were able to receive a transplant through the national marrow donor program, but the rate for African Americans, like Alexis, was 15 percent. The numbers haven’t changed much, and they are not successful in finding a match.

Seeing the couple’s despair, Dr. Marshall mentions the possibility of Cathy and Andre having another child; there is a 1 in 4 chance they would be an HLA match. The couple starts to research this option and comes across the possibility of pursing in-vitro fertilization and pre-implantation genetic diagnosis and implanting only embryos that are an HLA match to Alexis. They make an appointment at Crossroads IVF Clinic and meet with Dr. Richard Moss to discuss this further.

Dr. Moss is empathetic with the couple and listens carefully to their request. It is clear that they were not thinking of having a child before realizing this as a possibility to cure Alexis. He is a little hesitant about moving forward and wonders what the ethical ramifications are for him and the clinic if he moves forward. Further, the couple’s insurance will not pay for the procedure since they are not infertile. His clinic has a payment plan, but the recovered cost is substantially lower than if insurance pays.

Provide him with guidance as to whether he should move forward with this request from Cathy and Andre.