The case for genetic testing and updated medical records

UPDATE:  I have downloaded the actual article from JAMA - it is currently only available to persons that have a subscription to the journal.  Please email me if you would like me to send you a copy.  Below is the abstract from JAMA's website:

Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation

Barry J. Maron, MD; John R. Lesser, MD; Nelson B. Schiller, MD; Kevin M. Harris, MD; Colleen Brown, ScM; Heidi L. Rehm, PhD 

JAMA. 2009;302(15):1681-1684.

ABSTRACT

Context  Sperm donation is an increasingly common practice for achieving pregnancy in the absence of a male partner or when fertility is problematic. The unintended consequence in which genetic diseases are unwittingly transmitted to offspring is an underrecognized public health issue not previously prioritized by US Food and Drug Administration guidelines.

Objective  To report the clinical circumstances and implication of hypertrophic cardiomyopathy (HCM) transmitted by sperm donation to recipients.

Setting  Voluntary sperm donation through a US Food and Drug Administration–approved tissue bank.

Main Outcome Measure  Incidence of genetically affected offspring and clinical outcomes to date.

Results  An asymptomatic 23-year-old man who had no personal knowledge of underlying heart disease and who underwent standard testing that was negative for infectious diseases, repeatedly donated sperm over a 2-year period (1990-1991). The donor was later shown to be affected (in 2005) by a novel β-myosin heavy-chain mutation that caused HCM, after an offspring wasclinically diagnosed with this disease. Of the 24 children known to be offspring of the donor, including 22 who were products of fertilization via sperm donation and 2 conceived by the donor's wife, a total of 9 genetically affected offspring, 2 to 16 years of age and 6 males, have been identified with HCM (2005-2009). Three of the 9 gene-positive children have currently expressed phenotypic evidence of HCM, including one who died at age 2 years due to progressive and unrelenting heart failure with marked hypertrophy, and also 2 survivors with extreme left ventricular hypertrophy at age 15 years. The latter 2 children and the donor are judged likely to be at increased risk for sudden death.

Conclusions  This case series underscores the potential risk for transmission of inherited cardiovascular diseases through voluntary sperm donation, a problem largely unappreciated by the medical community and agencies regulating tissue donation.Recommendations include improved screening guidelines for donors to exclude cardiovascular diseases (eg, HCM) such as consideration for 12-lead electrocardiograms.

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From the DonorSiblingRegistry blog:

Sperm Donor with Serious Genetic Issues- The need for genetic testing of donors.

From Today’s Journal of the American Medical Association:

“Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation” JAMA, 10/21/09, Vol. 302, Number 15, p. 1681-1704, including commentary

A donor who had no knowledge of of underlying heart disease, donated to a sperm bank over a 2 year period from 1990 to 1991. In 1995 he was diagnosed with HCM (a disease of the muscle of the heart in which a portion of the myocardium is hypertrophied (thickened) without any obvious cause. It is perhaps most famous as a leading cause of sudden cardiac death in young athletes. The occurrence of hypertrophic cardiomyopathy is a significant cause of sudden unexpected cardiac death in any age group and as a cause of disabling cardiac symptoms. - Wikipedia)  Nine of his twenty four (twenty two donor kids, two with his wife) children have been identified as having HCM (eight of the donor children and one of those produced with his wife).

One child died at age two due to heart failure, two others have extreme left ventricular hypertrophy at age 15 years and are judged to be likely to be at an increased risk for sudden death.

From the article:

“While the US Food and Drug Administration (FDA) inspects the operation of the banks and screening procedures for donors, this process has been directed primarily toward the prevention of infectious diseases, with little attention to the potential transmission of genetic diseases.”

“This case underscores the potential risk for transmission of inherited cardiovascular diseases through voluntary sperm donation, a problem largely unappreciated by the medical community and agencies regulating tissue donation.”  The article goes on to say, “We are aware of only one other documented instance in which a genetic disease was transmitted to an offspring by sperm donation”.

These are some of the medical and genetic issues that have been reported on the DSR: Autism, Aspergers, Von Wilberands (blood disease), MCAD (genetic disorder requiring both parents to be carriers), Type I Diabetes, Albinism, heart murmur, hypertrophic cardiomyopathy, Marfan’s Syndrome, PHACES Syndrome,  Dwane Syndrome, Kiddney Disease,  Hemoglobin D, Metabolic Genetic Disorder, Complex Congenital Heart Defect, Tourettes, Hypophosphatasia, Williams Syndrome, Mitral Valve Stenosis, CHD, VUR, PKU, Tay Sacks, Atrial Septal Defect,  HLH, Hypospadias, Karatosis Pilaris, Ebsteins Anolomy, ASD, Van Der Woude Syndrome, Seizure Disorder, Horseshoe Kidney, Imperforated Anus, Hole in Heart, Cyctic Fibrosis, Spinal Muscular Atrophy, Amniotic Band Syndrome, Polycystic Kidney Disease, Congenital Heart Disease, Hydrocephalus, Zellweger Syndrome, Leukemia, Renal Disease, Severe Congenital Neutropenia, JDM, and Bi-Polar Disease.

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I think that a) the fact that the infertility industry is only owning up to a SINGLE case of a genetic defect/disease being inherited by a donor offspring is ridiculous and simply shows their sheer lack of concern for the children being created.  As Wendy has pointed out in the above paragraph, there are 47 different types of diseases (some more genetically-based than others) that have been reported on the DSR.  This is not counting the multitude of other diseases/disorders/defects that are NOT congenital and won't show up until the child is an adult or older, or perhaps will only appear in their children!!

It is time for the donor conception community to begin lobbying Washington and demanding these basic screenings as well demanding that donors are required to update their medical histories every x number of years, or upon discovering a condition in the future.  This does not deny them their anonymity, there is no way for the parents and offspring to trace him based on his medical history.  As for those who think that medical history should be kept private, then my response is these men and women should not be selling their sperm/eggs and their children and not take at least a shred of responsibility for their health and well being.