Issue 19 / 30 May 2011

WANT to raise a little Sam Stosur or perhaps a (not so little) Ian Thorpe?

If hot-house parenting is your thing, you might want to make sure your investment in coaches and nutritional supplements is well targeted before you start the campaign. After all, you wouldn’t want to get up at 5 am every day for swimming training if your child was actually more suited to, say, table tennis.

Fortunately, the friendly folks at a rash of new gene-testing laboratories are here to help, as this article in the Washington Post makes clear.

Tests being spruiked online to parents promise to look at individual genes related to muscle fibre type, cardiovascular and skeletal muscle function, energy metabolism, grip strength and so on.

One gene, we’re told, is associated with “endurance performance in female rowers”. The female rowing endurance gene … haven’t heard of that one before.

Pity the children whose parents take up such offers. Not only do these children risk being denied the opportunity to discover for themselves the things they’d really love to do — even if they were hopeless at them — but you can pretty much imagine the recriminations down the track.

“I spent thousands of dollars on your training … You could have been a world champion … The tests proved it.”

Well, no. The tests didn’t.

Researchers from Harvard Medical School and colleagues last year looked at some of the direct-to-consumer genetic evaluations on the market, including tests for the creative, musical, artistic and shyness “genes”, as well as for intelligence, athletic talent and bad behaviour.

Companies offering the tests often openly or implicitly misrepresented the usefulness of the information they could provide, the authors said.

So-called scientific claims were often based on unproven associations, small effects or a denial of the complexity of genetic information.

Basically, there’s a lot more to being a champion marathon runner than a single gene that might play a role in slow-twitch muscle fibres.

Government regulators do appear to be taking some action. The US Food and Drug Administration last month asked one company to justify its marketing of a genetic athletic assessment test without regulatory approval.

But it seems the question for regulators is not just whether marketers can justify their scientific claims about the tests, but whether we should permit genetic testing of children for non-therapeutic purposes at all.

Jane McCredie is a Sydney-based science and medicine writer.

Posted 30 May 2011

4 thoughts on “Jane McCredie: Gene testing goes too far

  1. Mark Houston says:

    It took a while but I have finally collected a few articles from the blogosphere which discuss the issue of direct to consumer “DTC” services being offered by genotyping companies such as 23and me. The fact is that this issue became an issue after the American Medical Association (AMA) sent a letter to the FDA, demanding that only medical doctors should have the right to interpret an individuals genomic library and many many many different languages (…). Basically, the AMA’s argument is that only a medical doctor has the right to interpret the meaning behind an individual’s genome sequence, and anything else, including SNPs, CNVs and possible gene mutations. So, the real issue is, is this really possible? Lets’ be honest, medical doctors know almost nothing about genetics, and this is especially so of population genetics (and GWAS studies) and the meaning behind haplotypes, when particular genotypes are introduced to novel ecosystems (a new country), through migration, and disease occurs due to environmental change. I could actually go on for hours on this subject.
    Below is a cut and past from blog – Gene Expression (…):

    It’s been a few days since my post on the FDA DTC hearings was linked around the blogosphere, and generated some incredibly well informed discussion. There are plenty of reactions, but there are two which I want to point to specifically. [The ] first … takes a stance more in keeping with my own. And second …tends to be sympathetic to the idea that regulation of DTC medical results are necessary. Over the past few days I’ve received some feedback from medical professionals too expressing worry about total laissez-faire.
    … I will admit that I am not totally disinclined toward paternalism. I’m not a libertarian, though my sympathies in that direction are often clear. When it comes to major public health issues the wisdom gained by the professionals through experience and the scientific method needs to be determinative in terms of public policy. But I simply do not see the misinformation inadvertently fostered by DTC personal genomics as in the same kind of category as anti-vaccination paranoia or the results from HIV tests. The medical inferences one makes are generally weak to non-existent in effect and relevance. Second, the arguments for paternalism strike me as very weak in the context of other issues in the broader society. We live in a world of fad diets, agricultural subsidies, and esoteric supplements. … concern[s] about “freedom” when it comes to one’s own genome in light of major violations of civil liberty in our time, but I wonder about the focus on the down sides of DTC personal genomics when there are much bigger health issues looming on the horizon. DTC personal genomics is powerful primarily in the domain of ancestry. The medical relevance is marginal (right now).
    Second, there is the bigger issue of health care and medicine in our society… Individuals vary in knowledge and intelligence. My friends who are doctors admit privately that treatment varies a great deal based on how much the patient is willing to, or capable of, being a partner in treatment and diagnosis. The current crop of DTC personal genomics users are generally well educated and motivated. The later crops are going to be barely able to multiply. That’s a problem. How to distinguish the two? Those of us who aren’t stupid, and know as much, or more, in particular details as medical doctors or genetic counselors are a small minority, but we’re obviously loud, motivated, and are willing to become well mobilized. A quick “genetic competency test” perhaps could serve as a filter, dividing the unwashed from the enlightened.
    And yet something else looming in the background right now is the way medicine is practiced in the world today is changing, and has to change… Modern medicine is exceptional in that it actually works on a biophysical level. But a lot of the “low hanging fruit” has been picked, and due to the nature of medical research much of the “cutting edge consensus” is wrong. Medicine, like many fields, has been subject to information overload, and I’m skeptical of the ability of any human to keep up…
    Licensing regimes, and the shift of physicians from being shamans and therapists, and surgeons from being butchers, is a product of a particular time and place, to protect patients from frauds as well as safeguard the legitimacy of a nascent profession. In the current discussion about DTC personal genomics the idea of ‘genetic counselors’ has cropped up repeatedly, which makes sense. The treatment of an individual needs to be chopped up into appropriate specialties, already evident in the need for highly specific medical subfields. The professional system which produces M.D.’s will probably have to change to adapt to the times, as motivated patients will (like me) will have access to enough real-time information to understand that doctors are not omniscient, and need a great deal of complementation to maximize the fruit of the most up-to-date research… Over the long term what we really need to increase human well being are materials scientists and entrepeneurs who produce innovation which drives economic growth, not more encyclopedic physicians, clever quantitative financial engineers, and eloquent lawyers…

    Let me end by saying, again, that MY GENOME BELONGS TO ME, NOT THE GOVERNMENT, AND NOT THE AUSTRALIAN MEDICAL ASSOCIATION, and I have the right to interpret my genome, based on any area of understanding, whether it be population genetics (ancestry), disease risk, and or sports and intellectual skills. If I get anything wrong in the process, then that’s my problem.

  2. Mark Houston says:

    Yes, such an idea of testing children for genes that may give a competitive advantage in sport is a bit far fetched, but of course, what is even more far fetched is a gene test for personalised weight loss. In reality what gene testing can really do to inform, anyone, regarding health is ethnicity (race), in particular, whether the genotype/phenotype is dominated by northern latitude genes (cold climate haplotypes) or southern latitude genes (hot climate haplotypes). In years past, we used to use somatotyping to identify climate type phenotypes, but of course, the idea of modular genes, is quite irresistible. And certainly, in the near future, the phenotype really will be explainable through genes related to adaptive forces (selection) to climate, diet and disease experience, all of which would explain why the western idea, that there is one diet for all, is totally flawed. So, how does one arrive at such scientific discovery. Well, I believe it is by allowing people the right to open access genotyping, a service which the Australian government can not afford to perform.
    I like the theory of the association between antibiotic and vaccination abuse and accelerated growth of the human body plan as a child grows from neonate to a full stature. The end result of course is an inflated body plan (which includes excessive height and obesity). Such an increase in body size affects a high population number, world-wide, yet, in others, there is little change to the hereditary somatotype (phenotype). So why would it be so, that some genotypes have highly locked genes associated with growth and development, yet others are so easily, unlocked. Is this due to actual genes, or is it the epigenome? Maybe it’s something yet to be discovered, but for sure, like farmed pigs, modern humans are also being bred for faster growth and greater stature, and the rate of tissue dysplasia (due to uncoupling of strict scaling laws), throughout the population, is partially, or maybe even fully responsible for many modern diseases. I wonder why medical authorities have never informed the general public of this little problem.….
    Let’s be honest, any Australian, who is not an Aborigine, is not really an Australian, since the selective forces which shaped the metabolism and body shape of all immigrants came from higher latitude forces in Europe and Asia. As such, while it may be true that many genetic tests for sports is a waste of time, the same tests would also be useful, finding many other patterns (alleles) relevant to the issue, of how Australian ecological forces, working in conflict with an animal breed (non-indigenous Australians), which was selected for alternative environment, establishes metabolic fitness in Aussie land. Surely, such scenario has major implications to medicine, and in particular, the whole idea of what is meant by natural medicine, and holism.

  3. Craig Patterson says:

    Maybe the Pharmacy Guild could involve itself in genetic testing-directed homoeopathy to target the effectiveness of another evidence-free medicine that pharmacists seem happy to endorse and sell.

  4. Dr Ken Harvey says:

    See also the following joint media release from The Pharmacy Guild of Australia and MyGene Pty Ltd (dated 17 March 2011):
    “The Pharmacy Guild of Australia through Gold Cross Products & Services has an agreement with Melbourne-based genetic testing company MyGene and has endorsed their genetic-test-based weight loss program.
    “Weightloss Complete composed of a genetic test and a structured evidence-based weight loss program which uses a simple DNA collection via a cheek swab to collect cells from the inside of the mouth which is then sent to the Mygene laboratory. The lab analyses some of the key genes associated with how the body metabolises carbohydrates and lipids, the results of which enable the Mygene Health Care professional to develop a personally optimised eating plan and weight loss program.
    “MyGene will support pharmacists, GPs and other health professionals to introduce the delivery of genetic tests and clinical interpretation services for clinical, pharmacogenetic and lifestyle genetic testing.
    “We believe community pharmacists have the capacity to raise the awareness of pharmacogenomics with consumers and other health care professionals. Community pharmacies are also ideally placed to introduce a point–of-care testing service for specific medicines and conditions for which testing exists ,and to coordinate information sharing back to patients and between relevant health care providers,” General Manager Trevor Clarkin said.
    “Genetic testing will provide patients, through their local pharmacies, with another tool to build a more complete picture of their health and the genetic tests will help aid pharmacists and allied health care professionals in clinical decision making. The results can enable health care professionals to assist patients make better treatment and lifestyle decisions through their clinical recommendations. Pharmacists, with the assistance of MyGene, are ideally placed to help modify or manage health risks associated with their patient’s genes,” said Nick Argyrou, Managing Director MyGene.
    “MyGene is taking genetics out of the laboratory and into the hands of everyday individuals and under the supervision of a qualified health care professional, allowing them to make positive choices about their health and lifestyle,” said Graeme Smith Chief Scientific Officer MyGene.”

    I am not aware of any evidence to suggest that genetic testing can assist “personalised weight loss”.

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