by Dr. Hsien-Hsien Lei
Posted October 1, 2007 in DNA Testing, DNA and Disease, Genetic Engineering
The UK Human Fertilisation and Embryology Authority has approved the use of preimplantation genetic diagnosis (PGD) to select embryos free of the gene for early-onset Alzheimer’s disease (AD). The couple who applied has a family history of the disease on the man’s side. His mother, grandmother, and two uncles all died from early-onset Alzheimer’s.
In 2002, researchers in Chicago performed the first PGD procedure for early-onset Alzheimer’s disease. Fifteen embryos were screened for the V717L mutation in the amyloid precursor protein (APP) gene which acts in a dominant fashion; only one copy of the genetic mutation is needed to cause early-onset Alzheimer’s. In this case, the mother carried the V717L mutation inherited from her father. One of her sisters and one of her brothers also had the disease. At the time, the Wellcome Trust Public Health Genetics Unit raised the following concern:
Considerable controversy surrounds this use of preimplantation genetic diagnosis. The issue is whether a woman who knows that she is likely to fall victim to dementia while still in her 30s, and so be unable to care for her child, has the right to choose to become a mother.
Dr. David King, director of Human Genetics Alerts – an independent public interest watchdog group in London that opposes the use of PGD for early-onset Alzheimer’s disease:
We can confidently expect science to find a cure for Alzheimer’s in the next 40 years.
I don’t believe that it is better never to have been born than to live a healthy life for 45 years and die from Alzheimer’s.
If we don’t want to slide down this slippery slope, we must restrict PGD to conditions that are fatal in early life.
As for the couple who has just been granted the use of PGD for early-onset Alzheimer’s, the potential father is the one with the family history. Yet, he does not know if he carries the APP V717L gene mutation. If he does carry the genetic mutation, he has a 50-50 chance of passing the mutation, and subsequently the disease, to his children.
Although I’m not questioning this couple’s very personal choice, I do wonder why they are going through PGD without knowing the potential father’s genetic status. If he tests negative, he can rest assured that his children most likely won’t develop early-onset Alzheimer’s and they would not have to go through PGD. However, if he tested positive, he’d be in the same situation of considering PGD. I understand the psychological implications of genetic testing, but what is the rationale behind this choice?
Would you choose PGD to select embryos free of a genetic mutation even if you didn’t know if you had the genetic mutation yourself and thus had no a priori knowledge of the probability of passing the genetic mutation on to your children?
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