Rejecting a donor based on genetic carrier status? Top 3 reasons to rethink it...

For over a decade, I worked as a genetic counselor in New York City, where young aspiring artists often took to sperm or egg donation. It was my job to study their family trees, recommend genetic testing and then report back to the agency on the quality of the donor’s profile. I was often surprised by the resistance from recipients to accept donors who were carriers of genetic disease; after all, many of us are healthy carriers of rare diseases. So, if you’re in this position, here are three reasons to reconsider:

1. Carriers are healthy. When it comes to recessive diseases, a carrier does not have symptoms of the disease they carry. In fact, there are a lots of examples of positive carrier status conferring a health benefit. The classic example is of sickle cell disease: being a carrier helps protect against malaria. When the Ebola virus hit West Africa, researchers discovered that carriers of Niemann-Pick type C were more resistant to the virus. So, one copy of a rare gene is not a bad thing, and sometimes it’s a good thing. 

2. Relying on family history information alone is not enough. Over 80% of children born with genetic diseases have no known family history. Many donors, and most people for that matter, do not know a lot about their family history. Listen to this story by Sir Paul Nurse, a respected geneticist who discovers his own family secret well into adulthood. The fact is, family histories can be murky, and genetic testing for a broad array of rare conditions offers a level of clarity that self-reported health histories can miss.

3. The experts agree that if you’re using a donor to start a family, you’re a good candidate for expanded carrier screening. Earlier this year, five professional medical societies issued a joint statement on the value of this screening: the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. If you’re using a donor to conceive, get as much information as you can and keep those records handy as your child gets older.

If you learn that your donor is a carrier of a rare genetic disease the next step is to be sure that you or your partner are not also carriers. Two biological carriers of the same disease face a 25% chance of having a baby with symptoms. That’s information you deserve to know and is important as you consider your donor options. If it turns out only the donor is a carrier (and the other biological parent is not a carrier of the same disease), keeping a copy of the genetic report will prove useful down the road. Someday your baby may want to start a family too, and he/she will need that information. Of course, it’s no easy task to choose a donor, so if your top candidate is a carrier but matches up on all the other desired qualities, take a moment to reconsider.