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.
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
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
Martha Ware, Hammonton,NJ, NJ/USA
-Steve
12 comments:
In standard IVF, multiple embryos are created and a random sample of these embryos is implanted. If PGD is used, the only difference is that the sample is non-random - instead, it is based on actual information about the embryo.
I would suggest that using PGD to select between embryos for any trait(s) - however trivial - is no more or less ethically wrong than using IVF in the first place, so long as the number of embryos created (and discarded) is the same.
Great point Daniel,
looking for blebs and malformed embryos is one way to select for implantation. However, this is not the same as looking for a gene sequence.... Both ways are not random, and there is some selection either way.....we must be prepared for the implications of your arguement.
-Steve
My 14-year-old daughter has heterozygous familial hypercholesterolemia. My advice to her, if she asked, would be to adopt. Even if her baby did not inherit the mutation, it would be subjected to very high cholesterol levels in utero, which is known to lead to atherosclerosis.
Wow! That is assuming of course we don't have better medications to treat cholesterol...I hope. Or maybe not? Let me know
-Steve
Dr. Murphy,
I don't understand your comment. Let you know what?
On the effects of maternal hypercholesterolemia, Palinski et al., The Lancet (1999).
As you know, statins are contraindicated in pregnancy.
Marilyn
I meant to let me know if your opinion would change if there were other medication options that worked as well as statins. Your daughter is 14 years old. I am assuming that there may be at minimum 4 years prior to your daughter having children. I am well aware of the FELIC study. The conclusion is "cholesterol-lowering interventions in hypercholesterolaemic mothers during pregnancy may decrease atherogenesis in children." Niacin is not contraindicated in pregnancy. There is a nice review in FASEB in 2002 by Palinski regarding the treatments available
-Steve
Steve,
I will read the 2002 Palinski article. I agree with your suggestion that if there were an LDL-lowering drug that was safe to use in pregnancy and effective against heFH, that would be an option for my daughter. I'm not aware that such a drug currently exists, however.
One would have to do a RCT in pregnant women with hypercholesterolemia in order to establish the safety of such a drug. That seems unlikely to happen.
I was under the impression that niacin only lowered LDL by a small percentage. I also have no information on whether it is safe to use in pregnancy at the doses that are used to treat lipid disorders.
Getting back to the news story you posted, that couple could increase their chances of producing a normal embryo if they used a donated egg combined with the husband's sperm (or the wife's egg combined with donated sperm). In such a case, 50% of the embryos would be normal instead of 25%.
Marilyn
I hate to say it, but maybe pre-implantation genetic diagnosis should be banned if people start to abuse it.
I hate to say it, but maybe pre-implantation genetic diagnosis should be banned if people start to abuse it.
Sure - and maybe we should ban the internet, given that some people use it to sell kiddy porn.
Do you really believe it might be a good idea to prevent people from utilising PGD to ensure their children are free from horrific diseases, in the event that a few people start to use the technology in a way that society finds distasteful?
Marilyn,
Thanks for the update. I am heartened by this news.
-Steve
www.helixhealthofconnecticut.org
I just want to clarify one thing, not for Dr. Murphy but for members of the general public. To the best of my knowledge, heFH cannot be controlled with diet and exercise to any significant extent. Statins are the main treatment. For people who cannot tolerate statins, or can only tolerate a low dose, LDL apheresis is an option. A drug that is often used together with a statin is ezetimibe (Zetia). Unfortunately, ezetimibe has not yet been shown to lower the risk of cardiovascular events or even subclinical atherosclerosis. There is a clinical trial called ENHANCE that compared treatment with a statin with the same statin dose combined with ezetimibe. The primary endpoint is the average of three measurements of the thickness of the carotid artery. The results of the trial are expected to be announced in March 2008. There are also trials going on that will test the effect of ezetimibe on clinical endpoints, but the results will not be out for a few more years. In the meantime, I am not allowing my daughter to be put on ezetimibe. Currently, she is on lovastatin 40 mg.
To add to Marilyn's comments
I would avoid statins such as Zocor which have a decent amount of drug drug interactions and require CYP 3A4 for extensive metabolism.
-Steve
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