Brave New Epigenome

Daniel at Genetic-Future asks "Which baby do you want? A dilemma for the 21st century parent-to-be"

There is a lovely recap of an article from Nature News.....from Daniel's blog,
Nature News has an intriguing article on the next three decades of reproductive medicine: essentially a series of short musings from scientists working in the field about the issues we will be facing in 30 year's time.

I would say we are facing issues with this technology today. I just saw an IVF baby without a large intestine. I brought up an issue here that is not so well tracked or publicized. I mentioned in the comments that there is evidence of increased risks of birth defects and epigenetic changes that include overgrowth syndromes......But what I found out a few days ago sent chills up my spine. It turns out my institution's REI group is not tracking these "congential anomalies" as part of due process......not good. At least someone is...

What is the evidence for or against?

1. Here is a nice review....preimplantation and risk to epigenetic modification.
2. A nice n=1 review of the promise of PGD for aneuploidy.
3. Increase in genetic mutations after ART with normal sperm
4. ICSI not so good.
5. A Great NEJM review that is a must read! This one is good too.
6. Not just risky for the baby. The mother is at risk too.

The Sherpa Says:

These were the highlights when I pubmed searched IVF and congenital outcomes.....There are many more indicating the risks. I wonder if all patients are properly counselled about these things? Which baby will you choose? Great question....I don't have the answer. But it seems to me, neither do the REI specialists......

Not Again OMG UK!

In another amazing step towards eugenics. Britain has awarded a couple the right to prenatal test for familial hypercholesterolemia. This way they can then terminate a pregnancy that may results in a child plagued with the disease of high cholesterol and heart attacks. In the Times

FH occurs in two forms. The more common version, heterozygous FH, affects 1 in 500 people. It is caused by a single mutated gene, which raises cholesterol and thus the risk of hardened arteries, heart disease and stroke. It can usually be managed with statin drugs and diet.

Britain’s first licence to test embryos for FH will be awarded next week to Paul Serhal, of University College Hospital in London, by the Human Fertilisation and Embryology Authority (HFEA).
Its decision breaks new ground because it permits Mr Serhal to screen out not only the severe form of the condition but also the milder type, which is usually treatable.

In addition this brings the thought of pre-implantation genetic diagnosis (PGD) for the disease. I know many people who are heterozygous for this disease. I treat them with cholesterol medications. Do I tell them they could have PGD? No. Do I tell them that their children will be at risk for heart disease? Absolutely. Is this a treatable condition? You bet. Can it be devastating? Yes. Does that mean we should PGD every gene you may not want? Hmmm this sounds familiar.

So where do we go from here? Gattaca.

Well, this certainly is a slippery slope. Let me know your opinion. This Times readers opinion says is very nicely

Lucky for us that the parents of (Agatha Christie - Alfred Lord Tennyson - Algernon Charles Swinbunre - Blaise Pascal- Charles Dickens Dante - Edgar Allen Poe - Edward Lear - Fyodor Dostoyevsky - Gustave Flaubert - Guy de Maupassant Lewis Carrol - Lord Byron - Professor Manning Clarke - Pythagoras (Philosopher & Mathematician) Sir Walter Scott - Socrates - Truman Capote) weren't tested for Epilepsy. Our world would be a much less interesting place.
Martha Ware, Hammonton,NJ, NJ/USA

-Steve

Of Media and Men...Down Syndrome Evangelists

Yesterday in the New York Times there was a front page story about first trimester screening for chromosomal diseases and the families of children with Down Syndrome. These families are inviting pregnant women who test positive to come meet their children with Down Syndrome. They do this in hopes of showing the pregnant woman what it is like to have a child with Down Syndrome.

I normally don't get too heated about the media. There are things I generally accept regarding the old media and genetics

1. They have people reviewing the science who have little if any genetic qualifications


2. They hype everything


3. They always look for a protagonist antagonist situation


4. They never look to support personal choice (Trust me they already have chosen for you)

So with that in mind I invite you to read this article if you haven't already. I would like to give you a little snippet here:

"The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity."

Come on now NYT, word choice is everything here and it is clear that this paper feels strongly NOT in favor of these parents.

"They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children."

I have a hard time pressing obstetricians to refer for genetic counseling. I have a hard time believing that these parents are even given the time of day by the Ob/Gyn, let alone being influenced or bullied.

The Gene Sherpa says: In the spirit of non-directive genetic counseling (something I rarely see CGCs do completely and something I wonder if the public even wants) we should offer all options to the patient. This public forum/support group could be mentioned just as easy as a D&E. In fact I think all options should be on the table PRIOR to testing.

Read the article and let me know how you feel.