Navigating Healthcare – Patient Safety and Personal Healthcare Management

PGD – Pre Implantation Genetic Diagnosis

Posted in Genetics, Healthcare Information, Obstetric by drnic on October 22, 2008

Listened to a fascinating podcast on the NPR On Health from Oct 6 (you can listen below or download it here) that featured a section on PGD or pre-implantation Genetic Testing. The article featured parents of a child who suffered from Spinal Muscular Atrophy (SMA)

This couple watched their son died 8 weeks after birth from a rare genetic condition Spinal Muscular Atrophy (SMA) (you can find a support group here. The couple wanted more children but not surprisingly after this harrowing experience they wanted more children but did not want to have another child go through this experience.

Another couple who’s father has a strong genetic component of colon cancer in his family also elected to undergo the process to select embryo’s that do not carry this gene that predisposes the carrier to a higher chance of cancer.

Both cases generated a vigorous response from many religious groups who object to any form of intervention and especially so in the second case that where objections included the concern of this being the first step towards gene manipulation towards the “perfect child”

I don’t know the answer – needless to say as with all things they can be used for good and bad purposes (a quick search online for PGD features “Gender selection” and “IVF Baby Guarantee” sites). At the end of the day we all have to arrive at our own position and comfort level with the application of technology. While I respect the views on both sides I defer to some great personal friends of mine who had a child in the 80’s who was eventually diagnosed with Angelman Syndrome (you can find out more about this condition here). The resources available on this were not available when they where going through this and I remember vividly the difficulties for this family as they struggled to understand this condition and its impact on them, their existing family and any potential future family. They have been a model family caring for their child in a loving and nurturing family environment. They overcame enormous challenges and difficulties with little help and love all their children as all parents to.

They had to make many choices, often without the benefit of knowledge or data and did the best that anyone could do in those circumstances but were clear about one thing – they did not want to bring another baby into the world with this condition.

I know I am no position to “understand” what they have been through or deal with every day and no matter my position I respect them for all their choices and would encourage everyone to be the same. Respect other people’s choices without the reverting to harmful rhetoric and imposed viewpoints. Choices rarely if ever come in black and white and we all do the best we can to make the right ones. In the case of PGD it’s a tool that offers great potential for those that need it.

Section runs from ~ 5:35

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