by Keith Syverson
A study published in last week's issue of the Journal of the American Medical Association (JAMA) raises concerns about regulation of sperm banks. The study describes the case of a 23-year-old man in good health who donated sperm to a U.S. sperm bank almost a hundred times over a two year period. The sperm bank followed protocols standard in the industry at the time of the donation: doctors gave the donor a comprehensive medical evaluation including a complete personal and family medical history in addition to laboratory testing for communicable diseases. Several years later, a woman inseminated with the donor's sperm gave birth to a child diagnosed with Hypertrophic Cardiomyopathy (HCM) — a heart disease characterized by the thickening of the heart muscle. The sperm bank notified the donor and all other recipients of his sperm that their children were at risk for HCM. Twenty-two children were born using the donor's sperm in addition to two children born to the donor's wife. Five children showed evidence of HCM including one two and a half year old child who died waiting for a heart transplant.
This case study underscores the need for more stringent testing protocols for gamete donation. The American Society for Reproductive Medicine has published recommendations on genetic screening for gamete donors, but compliance with these guidelines is voluntary. Studies have shown that most gamete donor agencies do not follow these protocols. For sperm banks, only half of programs surveyed performed a chromosome analysis and about a quarter of egg donor agencies reported that they do not screen egg donors. Moreover, the authors of the JAMA article note that it is a surprise that the sperm bank was able to contact the donor and everyone who received the sperm because this is uncommon in the industry.
In order to resolve some of the issues surrounding gamete donation, the authors suggest a two pronged approach. First, sperm banks should have a more rigorous screening protocol to test for genetic diseases. This would include more in-depth family history in addition to more diagnostic and genetic testing. Second, the authors suggest creating a national database containing detailed information on the donor's medical history and information on who received the donor's sperm. This would ensure that if a child is born with a genetic disease, other recipients of the donor's sperm could be easily notified.
There are several drawbacks to the proposed solution. The increased testing of the gamete donors will drive up the cost of operating the facilities. The increased cost will likely fall on the recipients of the donation and could potentially price out less wealthy individuals. This also raises the question how much testing is enough? It is easy to suggest testing for dominant genetic diseases with complete penetrance — diseases that if a person inherent the mutation, he or she will manifest the disease. But what about other diseases where the genetic links are not as strong? Some genetic tests only indicate a slightly increased risk for developing a disease or trait. Rejecting a donor because of a genetic profile that indicates a slight increase risk of developing a disease downplays the role environment plays in disease. It makes it easy to forget that a person carrying a gene that increases his or her risk for a developing a disease or trait might not actually develop the disease. Similarly, giving a person a clean genetic bill of health does not necessary mean that he or she will be healthy throughout his or her life.
Additionally, there is also the issue of how much information should be relayed to the donor. Learning that one is a carrier for a genetic disease can have a drastic effect on a person’s life. As one commentator suggests in a different JAMA article, "donors must be given the opportunity to make an informed choice about whether they wish to learn the results." This also poses an interesting problem. If a donor chooses not to receive the results of the genetic tests, but learns that his sperm has been rejected, he effectively knows that he has a potentially major disease.
The second prong of the proposed regulation, the establishment of a national database, also has the potential for problems. In addition to the logistical problems of funding and oversight, there are also privacy concerns regarding the donor's and the recipient's identifying information. Without adequate privacy protections, recipients of a donor's sperm may be able to contact the donor despite his desire to stay anonymous. The HCM case study provides an example of how a database could correctly function: a recipient contacts the bank because of a birth defect, which then contacts the donor. Without proper safeguards, the recipients might be able to directly contact a donor who wishes to remain anonymous.
Taking added precautions to prevent women from unknowingly receiving sperm carrying genetic mutations that are associated with deadly diseases is a good thing. But this can be achieved by testing for the common genetic mutations leading to infant mortality in addition to more rigorous screening of donors. Moreover, recipients of sperm from sperm banks should be informed that the sperm they are receiving is not perfect. Just as with natural conception, there is a chance that a child could develop a disease — even if the parents receive a clean genetic bill of health.
Keith Syverson is a second year law student at Chicago-Kent College of Law. He received his Bachelor of Science from the University of Rochester in May 2008, where he studied Molecular Genetics. Keith has been a research assistant at the Institute for Science, Law and Technology since October 2008. His interests lie in the legal and ethical implications of genetic technologies.