By: Pamela Callum, Manager of Genetics, California Cryobank.
I take the genetic screening of sperm donor applicants very seriously. I am after all, the Manager of the Genetics Department at California Cryobank (CCB) and the Co-Chair of the ART and Infertility Special Interest Group (ARTSIG) of the National Society of Genetic Counselors (NSGC). Genetic testing and genetic evaluations of the donors’ family medical histories is important to help reduce the risk for birth defects in offspring conceived through our program.
But genetic risk doesn’t start and stop with the donor. Evaluation of the mother’s family history is just as important for reducing these risks and I am always encouraging our clients to pursue genetic evaluations of their own family histories. The evaluations can help determine what testing may be appropriate to consider for yourself prior to and during pregnancy and can be critical when developing a plan for pregnancy.
At a recent Fertile Action event in Santa Monica, I was stunned that few of the attendees had been referred for genetic counseling regarding pregnancy management despite their clear interest in fertility preservation and family building following their battles with cancer. Several attendees stopped me after the panel discussion to ask questions about pre-implantation genetic diagnosis (PGD), a type of genetic test on which I had just commented. Many of them had never heard about PGD but suddenly appreciated it could be significant to their future families.
PGD is a genetic technology that is used to test embryos (that have been created through in-vitro fertilization (IVF)) for genetic mutations or chromosome abnormalities before they are transferred to the uterus for implantation. This allows the patient to reduce the risk of passing on specific genetic disorders to her offspring by selecting which embryos to transfer based on genetic test results for each embryo. For example, patients with mutations that are known to predispose to inherited cancer syndromes, such as mutations in the BRCA1 and BRCA2 genes, can benefit from PGD. They use PGD to avoid passing on their mutations to their offspring, by only transferring embryos that did not inherit the BRCA mutation.
Some of the attendees did report that they had met with a genetic counselor at the time of their cancer diagnoses. But now that they were moving on toward pregnancy, I encouraged them to consider a genetic consultation to discuss how their cancer diagnoses and cancer mutations might be relevant to their future offspring. If they wanted to consider PGD, it had to be done before they became pregnant.
I also reminded them that in addition to their cancer histories, they needed to evaluate the rest of their family medical histories because the genetic testing and evaluations that would be applicable to other people in the general population would also be relevant to management of the pregnancy. Patients often tell me that they are already familiar with their family’s history and don’t think a genetic consultation is necessary. They may be right, but it is not uncommon to discover that they are not aware of the significance of some of the family history or the options available for managing the pregnancy. Genetic counselors are trained to critically evaluate a family history and help patients understand the meaning of the information collected. They help to make plans for managing any issues of concern and discuss the options that are available before and during pregnancy.
You may also learn that you need to request your egg or sperm bank to perform additional genetic testing on your donor. Even though we perform some genetic testing on every donor, it may not be enough for your pregnancy based on something in your own medical history. We frequently receive requests at CCB for additional testing of our donors and we accommodate them whenever possible. But donors may be unavailable for additional testing. It is really important to make sure that a specific donor is available for testing well before you use that donor’s specimens for your pregnancy.
Genetic counseling is not right for everyone, but I strongly recommend it.
Cancer survivors have often made huge investments in their fertility preservation and family building options. I don’t want them to miss any opportunities as they get closer to fulfilling their dreams.
If you pursue a consultation, you may decide that none of the tests are right for you–and that is OK. But getting the right information, and taking the time to decide that you don’t want any testing, can be totally worth it. It’s often easier than being confronted with a lot of information and difficult decisions during your pregnancy.
I recommend talking to your doctor to help determine if a consultation is right for you.
You may want to consider a personal genetic evaluation if:
And let me emphasize… the greatest benefit occurs when a genetic consultation is performed BEFORE pregnancy. Too often, I have met with patients who didn’t know about their options until they were already pregnant. They were often disappointed to learn that they had missed some important opportunities. The pre-pregnancy consultation provides you with more time to discuss the risks for medical problems in your children, and time to take action to reduce these risks or learn more and make decisions that are right for you.
Genetic evaluations are available through California Cryobank and by genetic counselors across the country.
A genetic counselor in your area can be located at www.nsgc.org.
