A woman recently wrote about how exhausted she is about the Trying stage. Several IUIs, an IVF, lots of money spent. She was tired, out of money, and wondered if she should give up what has been an obsession to become a mother.
She asked: “One of my concerns is the donor’s medical history. I want to have testing done independently to be SURE there are no problems. I want the sample to be tested for MORE than what the sperm banks test for. To get through this difficult process and have the little one suffer from an illness would be so devastating. All I have found are places that:
1) conduct testing on the embryo; or
2) conduct testing on the sperm sample for the purpose of matching it with a database of others who have used donor sperm.
Does anyone know of a company that will test a vial of sperm from my chosen donor and run genetic/disease tests to be sure the sample is as healthy as I can know, based on what science can tell us. I know I would have to purchase an extra sample in order to send it for testing. I just don’t want IUI performed with any sample that I didn’t have checked out personally.”
See this Choice Mom E-guide: About Genetics, including the link to a podcast with the co-founder of GenePeeks, which does genetic testing of sperm donors in combination with your DNA to rule out certain donors before you make a selection.
What Can You Know?
I asked some of the sperm bank genetic counselors to weigh in on this question of donor sperm testing. Here is what Pamela Callum at California Cryobank said:
“I want to provide you with some information as to what you can do to help ensure that your donor has had the best testing and evaluations for your needs. To begin with, however, it is important for you to know that there is no single genetic test that is best for every donor. There is also no way to be sure that your child will not have a medical problem. Three to four percent of all children are born with birth defects no matter how they are conceived. Most of these medical problems cannot be tested for or prevented prior to birth.
We ALL carry genetic mutations in our DNA that we don’t know about and that don’t show up in our family histories. We can’t even predict all of the mutations that we carry, even by examination of our family histories. Furthermore, many medical problems occur just by chance during a child’s development. However, it is not unreasonable that you want to do everything you can for the health of your child. That desire demonstrates that you will be a great parent.
Many sperm banks perform some genetic testing on their donors and evaluate the donors’ family histories to varying degrees. There are professional guidelines published by the American Association of Tissue Banking (AATB) and the American Society of Reproductive Medicine (ASRM) as to how they should screen their donors. In addition, other professional bodies such as the American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) have genetic testing guidelines for everyone in the general population. However, they are only guidelines and sperm banks are not required to adhere to them, so it is important that you understand how your sperm bank evaluates their donors.
If your sperm bank follows some of the professional guidelines mentioned above, they have likely performed a reasonable evaluation of their donor applicants. There are THOUSANDS of other genetic tests available and they each cost hundreds or thousands of dollars to perform, so there is no easy way to determine what additional testing should be performed on the donor in whom you are interested.
Several companies currently offer genetic testing panels for 100+ disorders using new technologies and testing platforms. These 100+ panel tests are not recommended by any professional board for use in reproductive decision-making. However, this type of testing has certain benefits such as cost-effectiveness, and possibly the peace of mind that you are trying to achieve by pursuing testing for a lot of genetic conditions.
There are also down-sides to this type of testing.
- Some of the conditions on these panels are not life-threatening disorders and symptoms don’t usually develop until people are in their 40s or 50s. They can be very treatable conditions and many people who have these conditions don’t ever develop symptoms at all. In many cases, you would also have to carry a mutation for the same condition to be at risk of having a child with that disorder. You may be excluding a donor from consideration when your child is not at high risk to develop a medical problem.
- Since there are so many disorders on these panels, a lot of donors will come back as carriers for mutations in one of the conditions tested. If a sperm bank uses these panel tests to screen their donor applicants and doesn’t let the donor participate if he is a carrier of a genetic mutation, they would end up with a shortage of donors. We all have mutations. Even if your donor screens negative for 100 different disorders on a genetic testing panel, it does not eliminate the chance for you to have a child with one of these 100 disorders, it just reduces the chance of having a child with those conditions. It also doesn’t reduce the chance for other, untested conditions.
- Since these are not recommended tests to be performed on you or anyone else, testing will usually be performed at your expense if your sperm bank is willing to accommodate the testing at all. Many sperm banks may not be willing to accommodate additional testing and inconvenience to the donor unless there is a clear medical indication for doing so. Therefore, if you are interested in this type of testing, it is usually most appropriate to perform this testing on yourself first. A sperm bank that accommodates additional testing at your request will be more likely to then assist in testing a donor for specific disorders for which you have been identified to carry a mutation.
- The most important limitation, however, is that even if you test a donor using a 100 disorder testing panel, this does not mean you have tested the donor for the genetic factors that are relevant to him — and this is what is important for your pregnancy. You have only performed the testing that the laboratory offers to everyone, not testing that is most appropriate for your donor.
How do you determine what genetic evaluations are most appropriate for your donor?
A three-generation family history evaluation by a trained professional such as a genetic counselor is the best established way to identify risks for inherited disease and determine what testing may be appropriate for an individual donor. However, since you also contribute 50% of your child’s DNA, it is also recommended that you pursue an evaluation of your own family history evaluation with a genetic counselor.
While you may think that you know your own family history, many people are not aware of the significance of their family history to the health of their offspring, and what genetic evaluations they should consider for themselves.
In addition, an evaluation of your own family history may determine that testing should be performed on you first to determine what testing is appropriate on a donor. You can locate a genetic counselor in your area at www.nsgc.org. Consultations are also available over-the-phone by some facilities, including by California Cryobank, because we want to make sure our clients understand the importance of having their own family history risk assessment.
There are many details that you may want to consider when selecting a donor facility in order to help ensure that the evaluations of your donor are right for you and your pregnancy:
- How does your sperm bank evaluate their donors’ medical histories?
- Who performs these evaluations at your sperm bank? Are they performed by a physician, genetic counselor, another clinical professional, a non-clinical professional?
- What genetic screening tests does your sperm bank perform on their donors?
- Do they follow the guidelines of AATB? ASRM? ACMG? ACOG?
- What are the factors in your own family history that need to be considered relative to the donor’s family history?
- If you want to perform additional testing on your donor, is your sperm bank able and willing to perform this testing?
What else should you know?
The medical information available on a donor is static based on what he reported during participation in the donor program. Long-term medical information on the donor and his offspring can be relevant to the management of your child’s health. Please see the upcoming article on this website about how to evaluate your sperm bank based on the long-term follow-up services they provide.
— Pamela Callum, M.S., Certified Genetic Counselor, Genetics Department Manager, California Cryobank
Co-Chair, ART and Infertility Special Interest Group, National Society of Genetic Counselors