By Leslie Evans, MS, CGC; PGD Program Manager
We know that many of our patients are looking for a tall, twinkly-eyed, handsome gentleman with an ivy-league education. Often the genetic profile (or lack thereof) is not high on the list of priorities to be reviewed. According to a recent webinar presented by genetic counselors at California Cryobank, a large sperm bank based in L.A., only 11% of recipients viewed a donor’s genetic test summary and was the least viewed information compared to the donor’s profile, medical history, and personal essay.
However, the genetic health of your intended donor is one of the most important factors to predict the genetic health of your baby. The Food and Drug Administration does regulate human reproductive tissue, which includes sperm. While its guidelines cover the protection of recipients from communicable diseases, it does not outline any genetic screening guidelines for donors. The American Society of Reproductive Medicine (ASRM) does have guidelines outlining the minimum genetic testing for sperm donors, but these are recommendations rather than requirements and are somewhat vague.
When it comes to the thoroughness of genetic screening, not all sperm banks are created equal. At least, that’s our perspective at ORM Genomics. While we can recommend reputable sperm banks that we know to have good genetic screening protocols, we feel it is important for patients to be knowledgeable on how to evaluate sperm banks in order to have the best chance of having a genetically healthy baby.
- How do you screen the applicant donor’s personal genetic medical history?
Most sperm banks start with a questionnaire asking basic medical questions, including recording pre-existing conditions that would include any known genetic diseases. However, the applicant may have a genetic disease that is undiagnosed or may cause symptoms later in life. This is why it is important for a genetic counselor to also be reviewing the family history alongside the donor’s history. Some sperm banks have access to genetic counselors on staff or as consultants that can review the personal history in the context of the applicant’s family medical history. These experts may suspect that the symptoms have a genetic component and deny the applicant.
- How do you screen the applicant donor’s family medical history?
Screening the family history helps sperm banks decide whether to accept or deny the applicant as a donor. But another reason this is important is to collect a detailed record of the family history for the child’s lifelong medical management. It is not unusual for children conceived through donors to seek out information about that donor. In fact, the number one reason children seek out the donor is to find out more medical information. The best chance of collecting that information is when the donor is going through the screening process.
Collecting a family history starts with an online questionnaire provided by the agency or clinic. While the questionnaire is a great start at collecting a family history, taking that next step of screening donors through genetic counselors using a three-generation pedigree uncovers a lot more detailed information. Thus, the American Society of Reproductive Medicine (ASRM) recommends genetic counselor involvement when screening donors (see Appendix A). Taking a family history is really the best and least expensive genetic screening test available, so genetic counselors will spend a lot of time to collect this information. Not all sperm banks will invest in genetic counseling to collect this information, however.
- What genetic tests do you perform on donor applicants?
ASRM recommends that each applicant have genetic carrier screening for cystic fibrosis and any rare recessive diseases that may be more common in their ethnic background. Because most individuals, at least in the U.S., have multi-ethnic backgrounds, many sperm banks are screening their applicants with a multi-ethnic panel which could include over one-hundred genetic diseases.
At ORM, we currently offer the newest version of the Counsyl ForesightTM Carrier Screen, which screens for over 175 different genetic diseases. It is common for patients to find out that they are a carrier for at least one disease on the panel. If the intended donor has been tested with the same panel, it makes it easy to see if he is also a carrier for the same disease and would not be a good match. However, the intended donor may have been screened for different diseases, and the results may be difficult to compare.
If patients decide not to have carrier screening themselves and are using their own eggs, it is still important to find out if the intended donor has had genetic screening. This story in the New York Times reviews an incident where a child was born with cystic fibrosis because neither the donor or the recipient had carrier screening for the disease.
- What is your policy about performing additional genetic testing on donors?
There are occasions where additional genetic testing on the donor may be requested by the recipient or recommended by a healthcare provider. These situations include:
- carrier screening for a recessive genetic disorder that an intended parent is known to carry
- diagnostic testing for a mutation that is found in the donor-conceived offspring
While some sperm banks do not perform additional genetic testing on donors once they’ve been qualified into their program, other banks may provide this service under certain circumstances. Some sperm banks collect and store DNA from the donor during the approval process. Others may have to collect a new DNA sample, which can be logistically difficult. In either case, the donor would have to give his consent for any testing outside of the original panel of tests provided during his qualification process. It is important to know the policy upfront as it may help recipients determine the genetic screening/testing options provided from that bank.
- What information will I get on my donor?
Now that we’ve reviewed all of the information important to know before choosing a sperm donor, to what extent will the sperm bank share that information? There are some sperm banks that will have very limited information, while others will share details about the donor’s personal medical history, family medical history with three-generation pedigree, the complete carrier screening report from the laboratory revealing the positive and negative test results.
While the genetic counselors at ORM Genomics can help you navigate some questions about your donor’s genetic health, it is also important that you feel you can trust your sperm bank. If you feel that your sperm bank is thorough and knowledgeable about their genetic screening practices you will have a better picture of the genetic health of your future baby.