Gamete Donation: Medical and Genetic Implications

The US fertility industry is one of the least regulated among developed nations. No records exist for the number of children born from sperm donation or for the number of children born from each donor. In April, we discussed the emotional implications on the offspring. This article focuses on both potential and reported medical implications. The mission of the Donor Sibling Registry (DSR) is to educate, connect, and support all persons associated with gamete donation. The DSR has >30,000 members and has facilitated mutual consent contact between >8500 donor-conceived persons and their halfsiblings and/or their genetic parents. Since its establishment in 2000, the DSR has counseled many donor recipients whose children have an inherited and previously undisclosed disease. Some parents find that their donor did not disclose a hereditary disorder or that their sperm bank did not disclose that offspring of the donor they used had been diagnosed with a hereditary disorder. Others have even found out that their sperm bank has amended information on the donor’s medical form (Johnson v California Cryobank).¹

Medical Implications

The consequences of nondisclosure can be devastating. Over the years, many cases were publicly discussed in professional and lay publications. Between 2009 and 2011 alone the following cases were reported:

• London Women’s Clinic used chromosomally abnormal donor sperm to treat 11 women, including a couple who had to destroy 22 embryos created over a year of treatment.
• A child conceived using gametes from anonymous sperm and ova donors was diagnosed with spinal muscular atrophy type 1.
• New England Cryogenic was sued by a woman claiming that her children inherited genetic disorders. Other families who used this donor also reported issues.
• A Pacific Reproductive Services donor passed along hypertrophic cardiomyopathy, a fatal heart disease, to 9 of his 22 known offspring. One child consequently died.
• At least 9 children (California Cryo - bank/Nordic Cryobank) that have been conceived via an anonymous donor have been born with the inheritable disease neurofibromatosis type 1.

The frequency and severity of these health issues are of significant concern because donors can father in excess of 50 to 100 children. The largest known half-sibling group in the DSR is approaching 130 children.

Sperm banks have estimated that only 20% to 40% of women report their live births to them, meaning there is no accurate accounting of all children born from any one donor. When a donor illness is reported, it is impossible to notify all relevant families, because for the most part they are not known. To complicate matters, 21% to 27% of our surveyed donors reported donating to >1 fertility clinic.² Some sperm banks refuse to give donors their donor numbers, making it practically impossible for them to make mutual consent contact and share important medical information with biologic offspring.

Many US clinics and sperm banks refuse to update donor or offspring medical information. Of those who accept updates, some refuse to share the information with families.

Our research on 164 sperm donors revealed that 84% of them have never been contacted by their clinics or sperm banks for medical updates, although 23% reported feeling that they or close family members had medical/genetic issues that would be important to share with recipient families.² In addition, 94% of surveyed sperm donors said that they would have accepted an offer for genetic testing had it been offered by their sperm bank.²

The few following quotes from parents of donor-conceived children or from donors illustrate the impact of the lack of regulation in the industry:

1. “Our daughter is 6 years old and has been diagnosed with a hereditary bone disease called MHE [multiple hereditary exostoses]. There is no history in our family”
2. “At the age of 3, my daughter developed a very rare disease, Rasmussen’s encephalitis, which caused seizures and significant brain damage”.
3. “My father and grandmother both died of multiple myeloma, a nasty cancer. Many members of my family suffer from depression” [former sperm donor].
4. “My husband was a medical student and was an occasional sperm donor….He died of pancreatic cancer in 2002”.
5. “I would like to contact other offspring. Both my children have au - tism, and we have no history in my family of any disabilities.”

Our own research on 155 egg donors showed that only 2.6% of them had been contacted by their fertility clinics after donation to update information that might impact the donor-conceived offspring, although 31% of them reported that they or close family members had medical/genetic issues that would be important to share with recipient families.³ Survey respondents reported developing breast cancer, being diagnosed with hemochromatosis, or giving birth to a child who was a carrier for cystic fibrosis. Even more surprising, >33% of the egg donors who reported a new medical problem in themselves or a close family member did not attempt to contact their fertility clinic.³ Over - whelmingly, the reason reported was lack of education about the value of providing such information, and a lack of encouragement by the fertility clinic to do so.

Two of our most recent reports on donors and offspring experiences have just been published.^4,5

Donor Screening in the United States

Oversight from the US Food and Drug Administration has so far been directed at the prevention of infectious diseases, including sexually transmitted diseases (STDs). Little attention has been paid to genetic disease transmission. Genetic testing varies significantly by clinic.

Donor screening for STDs includes HIV, human T-lymphotropic virus, hepatitis B and C, syphilis, gonorrhea, chlamydia, and cytomegalovirus. Some fertility clinics and sperm banks also test for cystic fibrosis, sickle-cell disease, Tay-Sachs disease, Canavan disease, Gaucher disease, Niemann-Pick disease, and beta thalassemia.

The DSR recommends that all donors be tested for a larger scope of tests, possibly including karyotyping, cystic fibrosis, Tay-Sachs disease, fragile X syndrome, hemochromatosis (for HFE mutation), BRCA1 and 2 mutations, celiac disease, polyposis conditions caused by APC gene mutations, hereditary nonpolyposis colorectal cancer, glycogen-storage diseases, such as Fabry disease and Niemann-Pick disease, polycystic disease, Huntington disease, melanoma (CDKN2A mutation), myopia, and Marfan syndrome (for donors taller than 6 ft 2 in).

In addition, the DSR recommends more thorough physical examinations, face-to-face medical history intakes, and full psychologic screening. Among our surveyed donor offspring who wished to make contact with their donors, 74% listed learning more about their medical background as a reason for the desired contact.⁶

Recommendations for Fertility Clinics

• Adequately counsel prospective donors before they begin donation, including the legal, ethical, moral, and mental health implications for themselves, recipients, and offspring. They must also be educated about their legal and ethical responsibilities to be honest as a donor.
• Require donors to regularly update their family medical history and have this information available to all families who have used this donor.
• Track all recipients, donors, and births, and report all live births from each donor • Limit the number of births conceived from any one donor; the DSR lists 32 sibling groups of between 15 and 129 children, and 91 groups of >10 half siblings. 
• Counsel parents on openness, full disclosure, and the importance of using open donors; emphasize the importance of having information about genetic, ancestral, and medical backgrounds.
• Encourage all donors and recipient parents to register with the DSR to be able to share and update medical information with one another.

As we hear more frequently from families who have been formed using donor conception, we think that the industry should respond accordingly as it moves forward, and consider updating and re-evaluating the methodologies that are now known to be insufficient in safeguarding the health of all involved.

References

1. Johnson v Superior Court (California Cryobank). (2000) 80 Cal. App. 4th 1050 [95 Cal.Rptr.2d 864].
2. Kramer W, Daniels K, Perez y Perez M. Semen donors who are open to contact with their offspring. Presented at the American Society for Reproductive Medicine 66th Annual Meeting; October 23-27, 2010, Denver, CO; Fertility 2011, the 7th biennial conference of the UK Fertility Societies, January 5-7, 2011, Dublin, Ireland; 2nd International Congress on Controversies in Cryopreservation of Stem Cells, Reproductive Cells, Tissue & Organs and Cryo Surgery, April 7-9, 2011, Valencia, Spain.
3. Kramer W, Schneider J, Schultz N. US oocyte donors: a retrospective study of medical and psychosocial issues. Hum Reprod. 2009;24:3144-3149.
4. Jadva V, Freeman T, Kramer W, Golombok S. Sperm and oocyte donors’ experiences of anonymous donation and of being contacted by their donor offspring. Hum Reprod. 2011;26:638-645.
5. Jadva V, Freeman T, Kramer W, Golombok S. Experiences of offspring searching for and contacting their donor siblings and donor. Reprod Biomed Online. 2010;20:523-532.
6. Kramer W, Jennings P, Beeson D. Anonymity, disclosure and contact with donors: how experiences of donor conceived offspring vary by family type. Hum Reprod [In press]. Presented at the American Society for Rep - roductive Medicine 66th Annual Meeting, October 23- 27, 2010, Denver, CO; Fertility 2011, the 7th biennial conference of the UK Fertility Societies, January 5-7, 2011, Dublin, Ireland.