by Dr. Hsien-Hsien Lei
Posted August 20, 2009 in DNA Testing, Personalities with DNA
One of the most touching aspects of Genetic Rounds was your concern for the families of patients affected by genetic disorders. Some would-be parents turn to preimplantation genetic diagnosis (PGD) so as to avoid passing down certain genetic mutations to their offspring. What are your feelings about PGD?
Dr. Marion: My feelings are mixed. PGD is an amazing tool, an opportunity that allows families like the Kennedys in "Genetic Rounds" who, because of the birth of a previous child with a devastating genetic disorder (in their case, Spinal Muscular Atrophy) have decided not to have more children, to safely reproduce and raise a family. As such, it’s a technique that allows babies who would not have been conceived to be born. So, from that perspective, it is an incredible breakthrough.
The problem I see, however, is that I don’t think we’re certain of what effects PGD and in vitro fertilization in general might be having on the pre-embryo and embryo. Recent work showing an increase in conditions in which epigenetic disturbances may play a role, such as Beckwith Wiedemann syndrome, points to our need for additional information about how extra-corporal fertilization (a technique that’s necessary for PGD) affects gene silencing and gene expression. Until these studies have been completed, we have to continue to be cautious.
However, I think the benefits of PGD clearly outweighs the risks.
I recently received an email from a reader who’d undergone preimplantation genetic diagnosis prior to conceiving their children by IVF. Unfortunately, the genetic mutation they were concerned with was not picked up during the screening. With permission, here’s the email I received:
My wife and I underwent IVF and PGD testing to try and avoid passing on a genetic condition which she carries. Her mutation had been previously identified by a certified and highly respected laboratory. Three embryos were implanted and we were elated at the birth of our fraternal twin sons. Almost immediately, my wife recognized the signs of her condition in one of our sons. A blood sample was drawn from him and from my wife. These were sent to another highly respected lab that confirmed 1) the initial laboratory successfully and properly identified my wife’s mutation and 2) our son has the condition.
The laboratory that performed our PGD refuses to respond to our inquires. We just want to know and understand what happened — and that someone gives a damn.
Prior to undergoing the procedure, we thoroughly weighed and examined the moral and practical issues surrounding IVF & PGD. I researched the topic as much as I possibly could and kept running across assurances such as "error rates approaching zero." Heck, that’s better than what you get for any medical procedure!
I can’t begin to explain to you how alone we felt. It would be helpful to know that someone else has gone through this before… (emphasis added)
What are your thoughts on preimplantation genetic diagnosis? Do you have some kind words to share with this reader? For more information, see my previous post – Genetic Testing to Prevent Wrongful Life.
Dr. Robert Marion on Physician Knowledge of Genetics...
Dr. Robert Marion on Direct-to-Consumer Genetic Testing...
Dr. Robert Marion on Complex Genetic Diseases...
Preimplantation Genetic Diagnosis (PGD): A Discussion...
Medical Geneticist Dr. Robert Marion on Writing...
Genetic Rounds by Dr. Robert Marion...
Eye on DNA Links – June 19, 2007...
Sorry, the comment form is closed at this time.
Search Eye on DNA
- Genetic Genealogy on Faces of America
- DNA Network Tweet Cloud
- Genetics = Real Science
- Larry David’s DNA Test
- Lopez Tonight First Late-Night Show to Offer DNA Testing
- American Genes Don’t Exist
- Knowledge about Genetic Risk is Power or is it Fear?
- Murderer Gets Reduced Sentence Because His Genes Made Him Do It
- Video: Knome’s Ari Kiirikki Speaks with Medgadget
- DNA Toys: Ben 10 and Digimon Digivice
- 100 Facts About DNA
- Salaries for Jobs in Genetics
- Fetal Gender DNA Tests Answer Common Pregnancy Question...Or Not
- How To Determine Paternity Without A DNA Test
- What does DNA mean to you?
- Eye on DNA Interview: Dr. Tzung-Fu Hsieh of RedTracer DNA Test for the Red Hair Gene, MC1R
- Books About DNA: The Crime of Reason by Robert B. Laughlin
- Genetically Modified Organisms Bring in the Cash
- Navigenics Introduces Physician Portal and Annual Insight Service
- People Who’ve Had Their Genomes Sequenced
09/29/2009 07:03 am
- Larry David’s DNA Test
11/17/2009 02:52 am
- 23andMe DNA Tests for $399, Down From $999
09/10/2008 04:33 am
- Crazy Genetic Marketing Ideas
07/05/2008 09:14 pm
- Parenting Children Using Genetic Tests
05/18/2009 02:09 am
- Business of DNA
- DNA @ Google Answers
- DNA and Disease
- DNA and Genealogy
- DNA and the Law
- DNA Around the World
- DNA Fun
- DNA in General
- DNA Inventions and Gadgets
- DNA Lab Talk
- DNA Podcasts and Videos
- DNA Quotes and Excerpts
- DNA Testing
- Gene Therapy
- Genetic Engineering
- Genetically Modified Foods and Organisms
- Jobs Involving DNA
- Personalities with DNA
- Polls About DNA
- January 2010
- November 2009
- October 2009
- September 2009
- August 2009
- July 2009
- June 2009
- March 2009
- February 2009
- January 2009
- December 2008
- November 2008
- October 2008
- September 2008
- August 2008
- July 2008
- June 2008
- May 2008
- April 2008
- March 2008
- February 2008
- January 2008
- December 2007
- November 2007
- October 2007
- September 2007
- August 2007
- July 2007
- June 2007
- May 2007
- April 2007
- Infrared Sauna Info
- Women’s Bioethics Blog
- Christina Loves
- The Antidote
- HUGO Matters
- Scared to Health