Uncommon but serious gentically-transmitted diseases are being found in the offspring of children from sperm donors who were unaware that they carried these genes. This week’s JAMA reports on one such donor who unwittingly transmitted a gene for hypertrophic cardiomyopathy to 9 of the 24 children conceived using his sperm. At age 22, the donor was unaware of his condition, which often presents later in life. The article’s authors call for more intensive screening of sperm donors for this and other genetic conditions and increased attention by the FDA to the public health implications of sperm donation.
I know what you’re thinking, because it was my first thought, and that is – So what? All children conceived from human parents are at risk of receiving a previously undiagnosed genetic defect, unless every one of us gets our genes screened at puberty for every known abnormality. Why should donors be held to a higher standard than regular dads?
Here’s why. Most dads don’t have 24 children by age 22. If a guy were spreading his sperm naturally, his diagnosis would likely have become apparent long before kid #24 was concieved.
It’s a brave new world out there folks, and we’re messin’ with the gene pool. Poor Darwin must be turning over in his grave. Instead of “Survival of the Fittest”, maybe we should call it “Survival of the Earliest Donor”….
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Addendum – Nice editorial on this topic in the same issue of JAMA.
Slightly off-topic, I think that modern obstetrics is also changing the gene pool. It is allowing babies who would have died in childbirth to live. Not only are larger and larger babies surviving and passing on their genes, but babies from diabetic mothers, and mothers with other complications, are surviving as well.
BB –
Actually, you are quite on topic. It's one of the potential downsides of assisted reproductive technology. Thwarting nature.
Then again, holding that baby in your arms. Well, that's one heck of an upside, isn't it?
I don't think anyone wants to go back to the days of untreated infertility. And as a group, the children of sperm donors tend to be healthier than naturally concieved children, since the latter takes all comers and are not screened. But as a society, we need to consider the public health impacts and do what we can to minimize adverse outcomes.
We already limit the number of pregnancies a sperm donor can father. Should we make that number even smaller? Should we screen more aggresively?
I think this study will move that discussion forward.
What really worries me is when two of these 24 kids meet, fall in love, and reproduce. Apart from it being incest, the effect on the gene pool can be catastrophic. Over the 40 years I've been a CNM, I have developed very strong ethical concerns about both infertility treatment and the over-intensive treatment of prematures. The technology has outstripped the ethics, IMO
Your commenters brought up my concerns. Nice post and discussion.
Oprah had a magazine article last year about mothers who used the sibling donor registry to find other families who had used the same sperm donor. In addition to the children looking shockingly alike, there was a high rate of autism among the boys. They contacted the donor and found out he was on the autism spectrum.
However he was good looking and intelligent, and had blond hair and blue eyes.
There are a lot of concerns with sperm donation – genetic disease is merely one.
While I agree that the donor should be rigorously tested as best possible, this is also a scenario of hindsight being 20/20, and technology that is available today to give you clarity.
The mother is already taking pretty big risks with respect to the donor softer characteristics such as personality. Genetic diseases are just another part of the equation. If the technology or disease prediction is not available today, do we stop the donation practice? You cannot completely remove the risks of any kind, and the mother needs to be prepared to deal with whatever she gets because in the end the blessing of the child should far out weigh the disease.
I am someone who is unaware of my genetic history as I am adopted. Could I seek out information to find out more – probably. But why? I still have to maintain my own health. I cannot live my life obsessed about what I might come down with based on a probability chart from genetic testing. I recognize that the sperm donor situation is different because so many children can be conceived with a genetic anomoly, and if it can be avoided great. Otherwise, you just have to deal with the deck of cards you get.
Ooooooooohhh…I love a good debate!
I have to say that I agree with more stringent controls on donors. Here's my thinking – pedestrian as it may be. When a patient receives blood products, they know that those pints of blood, bags of plasma or cells have been through excessive testing and screening. Shouldn't a woman be just as concerned with the quality of reproductive products going into her body?
Just food for thought.
-OBS Housekeeper
there is something to be said for the turkey-baster donation between friends. nobody can screen for every bad thing. but knowing the donor, there is at least a way to ask about family history. in the case i'm thinking of, the donor dad also got a relationship with the baby — something along the lines of a beloved adopted uncle.
this, of course, would not be a viable option for everyone. but it seems more sensible than spreading any one sperm donor's stuff so broadly.
Antigonos –
I have the same concerns about sibs inadvertently marrying or parenting a child. One could argue the same potential exists for adopted children, but I think the number of sperm donor kids out there probably exceeds by a fair amount the number of kids adopted over the years.
RL – The editorial is quite well-written and has some good suggestions for future guidelines in this area.
Celeste – Oprah – of course…Wonder when there will be a show on the same topic?
Schrugglin – Agree re hindsight – not to mention that sperm donors are already incredibly well-screened. As to the cards one is handed, there are an awful lot of cards being handed out when a sperm donor fathers that many pregnancies…
OBS – Always with the food :)Sperm donors currently get the same and probably more testing than blood banks do. Here are the standards for sperm donors from the ASRM (I'd argue most of our partners have not had such screening…) –
"Sperm donors should be of legal age and ideally less than 40 years of age to minimize the potential hazards of aging. Traditionally, donors have been anonymous; however, the donor may also be known or directed to the couple or
single woman. The ASRM believes it is important that both anonymous donors and donors known to the recipient-though not necessarily intimate sexual partners-undergo the same initial and periodic screening and testing process.
However, the FDA only requires that anonymous sperm donors be screened for risk factors for and clinical evidence of communicable disease agents or diseases.
A donor is ineligible if either screening or testing indicates the presence of acommunicable disease or of a risk factor for a communicable disease. A
comprehensive medical questionnaire to evaluate the health of a donor and review his family medical history is the primary focus of selecting a donor.
Particular attention is paid to the potential donor’s personal and sexual history to exclude those males who are at high risk for communicable disease including
HIV, Hepatitis B, and other sexually transmitted diseases. A family medical health history is obtained for at least two generations of family members.
Prospective donors then undergo a physical examination with screening for visible physical abnormalities, as well as testing for sexually transmitted diseases.
Routine blood analysis includes documentation of the donor’s blood type.
Current FDA regulations require infectious disease testing to be performed and noted to be negative within 7 days of all sperm donations. For anonymous donors, testing for Treponema pallidum (syphilis), Chlamydia
trachomatis, Neisseria gonorrhea, HIV-1, HIV-2, HTLV-I and HTLV-II, CMV,Hepatitis B Surface Antigen, and Hepatitis C antibody are performed prior to donation and thereafter should occur at six-month intervals according to FDA
guidelines. Although the FDA exempts directed sperm donors from the six-month retesting requirement, the ASRM recommends that directed donors be retested
just as anonymous donors are retested. In contrast to the other communicable diseases, a positive CMV result does not make the sperm donor ineligible, since many programs allow his sperm to be used with CMV-positive recipients.
Compre-hensive genetic testing is impractical, however ethnically based genetic testing is standard in most sperm banks."
http://www.asrm.org/Patients/patientbooklets/thirdparty.pdf
Kathy a.
The modern equivalent of the turkey baster friend is a directed donor, and some couples do this. There are all sorts of other issues with this approach, however, most of them psychosocial.
Peace all.
TBTAM,
It would be great to know what the numbers really are for sperm donated children vs. adopted children. Do you really think that there are less adopted children out there? That would be a shocking revelation to me!
Schruggling
I think I am wrong and you are right – after googling around, it seems that the number of adopted kids is about twice that of sperm donor kids (if you include kids being adopted by relatives if even higher, but for the purposes of this discussion, those types of adoptions are irrelevent since parentage is certain.)
Thanks as always for your input.
Peggy