A moral framework for genetic testing

13 May

Today’s meeting of the Human Genetics Commission consultative panel was both informative and reassuring. Informative because some of the leading professionals gave of their time to brief us on three issues – screening children for genetic disorders, pre-conception genetic screening and pre-implantation genetic diagnosis. It was reasssuring because the Panel showed a good grasp of the issues and was very much aware of the ethical dilemmas that can arise and the need for guidelines. The HGC is keen to hear those concerns and see that they are included in representations to government agencies and law makers.

All this relates to autism indirectly but is beneficial because it suggests a favourable ethical climate in which to discuss future advances in genetic reserch into autism. Interestingly, one of the experts, who is closely involved in genetic testing did not believe we were going to see a genetic test for autism any time soon, if at all.

My only regret is that the nuanced discussion of complex moral issues that surround the daily advances in genetic science and medical technology are not reflected in media reports of this important topic – as Simon Baron-Cohen recently found to his cost and ours when he tried to initiate a public discussion of the issues.

Edit – I also regret the typos (now corrected) in my initial posting from Euston Station.

8 Responses to “A moral framework for genetic testing”

  1. nt4i May 13, 2009 at 21:02 #

    Genetics is a fascinating subject and has the potential to answer many many questions about any number of medical or biological issues. The progress made in recent years in terms of our understanding is truly astounding but there is still a long way to go.

    Of course the media see the only purpose of genetics as to test for (and eliminate) or to cure – and depending which they are talking about they will have an extreme opinion in support or against.

  2. club166 May 13, 2009 at 21:25 #

    It’s heartening to see that some in the world are paying attention to genetic testing.

    While many European countries place restrictions on pre-implantation genetic testing (PGD), there are only guidelines (that are openly flaunted) in the US. Several US fertility clinics openly advertise that you can select the sex of your baby (for non-medical reasons) through using their services. As markers for other things (obesity, intelligence, height, personality) become available, I have no doubt that these will be added to the menu.

    Joe

  3. The New Republic May 13, 2009 at 21:40 #

    My only regret is that the nuanced discussion of complex moral issues that surround the daily advances in genetic science and medical technology are not reflected in media reports of this important topic…

    That’s where us lot come in…

  4. nt4i May 13, 2009 at 22:33 #

    Most geneticists I have met have ethics at the forefront of their minds and would probably call for very tight controls on testing.

  5. Mike Stanton May 13, 2009 at 23:44 #

    nt4i
    I think one reason that the media associate genetic research with prevention and cure is that is the message that some genetic researchers give out in order to satisfy their funders.

    The emphasis at this meeting was on clinical rather than research priorities and the clinical geneticists at the meeting were there because they understand the need for ethical oversight.

    Joe,
    without wishing to get into the politics I think it is likely that health is historically a social concern in Europe. In the USA the profit motive takes precedence and the market for PGD is satisfied without reference to ethical concerns. Sad but true.

    Harry,
    nuanced discussion? You? I would never have guessed that subtlety was your middle name. 🙂

  6. rajensen088 May 14, 2009 at 13:03 #

    “I think one reason that the media associate genetic research with prevention and cure is that is the message that some genetic researchers give out in order to satisfy their funders”.

    Look at what the lead author of the recent study related to 5P14 genetic variants had to say:

    “It is very exciting,” said study leader Hakon Hakonarson, director of the Center for Applied Genomics at Children’s Hospital of Philadelphia. “It opens up the opportunity someday for new interventions to fix the bad consequences this variant has on brain function and development.”

    and:

    “If we could remove this variant from the population, just take it away … as much as 15 percent of autism would disappear, which is highly significant,” Hakonarson said.

    Hakonarson has just finished a whirlwind tour of the US national media, in every instance he claims that 65% of autistic children have this genetic mutation. In none of his media appearances is it noted that that same common genetic variant was also found in 60% of the control group:

    http://www.cbsnews.com/stories/2009/04/28/eveningnews/main4975659.shtml?source=RSSattr=Health_4975659

    In the three studies cited in the media tour nowhere is it mentioned that a previous claim related to genetic variants in 16P was not replicated.

    http://content.nejm.org/cgi/content/full/NEJMoa075974

    The studies looked at genetic variancs in chromosome 16P. They failed to replicate the chromosome 16P findings reported by the Boston Childrens Hospital, a finding that this particular genetic variant, which the authors claimed to explain at least 1% of autism. In the subsequent studies 16P genetic variants were found in <.3 of the autistic group (far lower than the 1% claim) which was no different than the prevelance of the same 16P variants found in controls (<.3).

    That hasn’t stopped the Boston Group from selling a ‘genetic test for autism’ at their hospital:

    http://www.childrenshospital.org/clinicalservices/Site1925/mainpageS1925P9.html

    The mainstream media has become an echo chamber for hyper exaggerated claims by genetic researchers, never questioning any of the claims.

    The supplementary data for the 5P14 study is now available and show how poorly designed this study actually is:

    Click to access nature07999-s1.pdf

    At the very least control groups should match on gender since common and rare genetic variants tend to occur more frequently in males than females or vice-versa.

    The supplementary data shows the the control gorup does not match the autistic group with respect to gender:

    Autism group:
    Males = 83% Females = 17%
    Control group:
    Males = 52% Females = 48%

    No gene for autism has ever been identified. Studies that make such claims continue to suffer from the same problem, failure of subsequent studies to replicate the original findings.

    The cause(s) of autism remain unkown.

  7. Roger Kulp November 4, 2012 at 15:19 #

    Since this topic has been revived,I would like to add something to it.

    Most of the people who complain about genetic research in autism,are usually those who are

    *Higher functioning.
    *Have few if any comorbid conditions.
    *Have never experienced a serious illness,or had acute seizures that can lead to a profound regression.

    They really can’t relate to those of us who have.

    The spectrum is so big,so broad,and covers so many different conditions,of so many different causes,that genetic research does a great service,by pruning out the diseases that merely cause “features of autism”,rather than autism itself.We have never really had a true discussion as to what is and isn’t “real” autism.We got close to it with the Hannah Poling debacle,but all the discussion went over to vaccines,which was only a distraction.

    As some of you know I spent many years with “just” an autism/learning disability diagnosis,and a couple of psychiatric diagnoses before that as a child.This did not explain my lifetime of severe illness,and frequent regression.Autism does not cause organ damage if gone untreated,like I have in my lungs and kidneys.

    Recently I have been diagnosed with a type of cerebral folate deficiency,unique to “autism”.I have every biomarker for it.I have a form with errors of B12 metabolism,not mitochondrial disease.It may be caused by the PCFT1 or SLC46A1 gene.

    http://www.sciencedirect.com/science/article/pii/S1359644612002620

    http://www.ncbi.nlm.nih.gov/pubmed/20724482

    This is not “autism” ,but we have only learned this in the last few years.Research needs to continue so we can learn the true causes of these diseases,and allow truly sick people to get the treatment they need,rather than being told it’s all “just a part of autism”

Trackbacks/Pingbacks

  1. blog-thing : A moral framework for genetic testing - July 11, 2009

    […] First p[osted on LBRB May 13, 2009 Today’s meeting of the Human Genetics Commission consultative panel was both informative and reassuring. Informative because some of the leading professionals gave of their time to brief us on three issues – screening children for genetic disorders, pre-conception genetic screening and pre-implantation genetic diagnosis. It was reasssuring because the Panel showed a good grasp of the issues and was very much aware of the ethical dilemmas that can arise and the need for guidelines. The HGC is keen to hear those concerns and see that they are included in representations to government agencies and law makers. […]

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