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Opinion

Parents see surprising benefits from tests for autism genes

by  /  21 July 2015

Julia Yellow

Autism is a complex disorder that often has no clearly discernible cause. But in some cases, a person carries a genetic variant that is a known risk factor for autism. Genetic testing can reveal these factors.

But given that the results of these tests aren’t likely to point to a treatment, what purpose does this information serve?

As a journalist who writes a lot about autism genetics, I’ve encountered vastly different answers to this question.

At a conference in March, I heard one perspective from a scientist who has a son with autism. Having spent her career searching for answers, she instinctively wanted to know as much as she could about her son. In a spectacular coincidence, she learned that her son has a mutation in the same gene she had studied for years. The findings didn’t guide treatment decisions, but she said knowing the origin of her son’s autism was hugely gratifying.

Another researcher, Thomas Bourgeron, once told me about a mother who learned years after her son was diagnosed with autism that he has a mutation known to cause a severe form of the disorder. Before getting this information, she had succeeded in teaching her son to talk, which is unusual for people with this mutation. Had she known this earlier, she told Bourgeron, “I would not have fought like this. I wouldn’t have thought I could fight the genome.”

These anecdotes illustrate that the results of genetic testing affect people in vastly different ways, but there has also been little research on the subject. A study published 12 June in the Journal of Autism and Developmental Disorders found that more than 60 percent of parents who received a genetic test result for their child with autism considered the information at least somewhat helpful.

The tests use so-called clinical microarrays, which compare an individual’s DNA with a reference genome on a chip. This method can detect duplications or deletions of DNA, some of which have clear links to neuropsychiatric disorders.

The researchers surveyed 50 parents, one per family, who’d had their child tested. Of the 50, 15 learned that their child has a genetic risk factor for autism, 17 found that their child has a variant of unclear significance and 18 did not learn of any genetic risk.

As might be expected, the parents who found out about a risk variant were the most likely to find the test useful. The only two respondents who said the results were ‘extremely helpful’ for their child, for example, received a definitive result. Still, 12 of 18 parents who received no information from the test found its results at least ‘moderately helpful.’ Only 1 of the 18 said the test was not helpful at all.  

As with the scientist I met, parents who have a child with a risk factor were relieved to have some understanding of the disorder’s origins. One parent, for example, used the result to refute a teacher who believed her son was “just arrogant.” Another regretted having looked for easy solutions in alternative treatments: “I would have never considered doing half the stuff to [the] poor [child] that we did,” she said, citing chelation treatments, purported to rid a child of toxins

Parents who did not find out any information were happy to rule out certain potentially serious genetic disorders, such as fragile X syndrome. The test also helped them decide whether they wanted to have more children. And 13 parents were generally happy to feel more informed, no matter the result.

After receiving the results, a few of the parents were able to find other families affected by the same rare mutation. As genetic testing for autism becomes common, families are forming groups that can offer support as well as provide an entrée for research into autism subtypes.

The tests did prompt some negative emotions and confusion, however. A few parents expressed guilt that their genes had harmed their child. Others were frustrated that the results were not immediately helpful. Still others misinterpreted the findings. For example, several parents who received an uninformative test believed that this meant that their child’s autism has no genetic component at all.

Overall, the findings support my instinct that information is almost always valuable. Counseling about what to expect from test results and how to interpret them may help mitigate the negatives.


11 responses to “Parents see surprising benefits from tests for autism genes”

  1. AmandaFL says:

    Sorry but this sounds like scientific rationalization regarding the failure of the massive amount autism research money spent on genetic research. This research that has repeatedly failed to deliver real causation or treatment help. Families are not donating their hard earned money and lobbying congress to more research for well meaning but useless test results. Of course the families in this study do not want to disappoint the researchers and say what they probably think- after all these years this is the best information I can get and it doesn’t even help my child?

    Families do not need support groups for genetically similar kids. Believe me they can attend many good ASD family support groups now.

    What we need is a honest conversation about how our autism research dollars are spent and who they can best help people living now. Genetic research alone has failed, families want a more well well rounded research portfolio, one that delivers actual help.

  2. Flip Schrameijer says:

    I find it strange that you seem to think genetic research into autism somehow has underperformed. You seem angry that , so far, the money that went into it has not produced insight into ‘real causation or treatment help’.
    I could believe such an assertion if someone convinced me big mistakes are being made, or that research money is spent foolishly. You didn’t say anything of the kind and I’m not aware of anyone who does. So the situation simply seems to be that genetic researchers are dong their best to understand this subject but simply haven’t arrived at the point where you – and I – would like them to be. In other words, we humans don’t know. Are you equally angry at physicists that they don’t know much about dark matter? Or that CERN in Geneva, for all the money it took hasn’t come up with cheap and safe ways to produce energy? I think not. As for ‘real causation’: it’s questionable if that exists at all. So far it seems there are innumerable genetic pathways, if ‘genetic pathway’ isn’t already a simplification in the light of all sorts of gene-environment interactions and competing pathways. I hope we both live to see some major clarifications, but I’m not expecting, let alone demanding them.

    • Flip Schrameijer says:

      The last sentence should read: “I hope we both live to see some major clarifications, but I’m not expecting them any time soon, let alone demanding them.

  3. Phil says:

    If you ask any parent of a child with autism they are not happy about the state of autism research. One has the right to expect better if we are to do better. We are talking about the lives, on the serious end of the spectrum, of some very severely disabled kids who are not living a great quality of life. They deserve more focused research efforts.

    • Flip Schrameijer says:

      I don’t deny the seriousness of the problems at all, so no difference of opinion there.
      You might have a point if this research is indeed insufficiently focused. Is it? What do you mean by that?

    • Adam says:

      I am a parent of a child with autism and I am happy about the incredible advances being made in autism research. It is now abundantly clear that many genes play a role in autism and that gene-environment interactions are critical to the development of autism in individuals. The great complexity of contributing factors makes the breadth of the spectrum and initial difficulty in pinning down specific etiologies seem inevitable. I can see in the ever increasing rate of significant study results in autism research that we are seeing the benefit of the digitally enhanced innovation curve in research–results that used to come yearly or monthly are now coming monthly and weekly. This is a time when amazing discovery is routine and I feel very lucky to be living in it.

  4. Jeff says:

    On a somewhat controversial aside to this genetic testing, why haven’t we yet found a way to genetically identify those who will become autistic following vaccination? If big pharmacy and the government believe so strongly that there is no link, the burden of proof should be on them.

  5. ASD Dad says:

    Very happy for Adam but would guess he is highly unique among parent’s of children affected with autism. I wish all these “incredible advances” made it possible for my young adult son to speak again (as he did before autism set in), to not be constipated for days on end despite medical help, to not hit himself in the head when in pain or frustrated, to sleep a lll night….Please try to imagine that science’s “amazing discoveries” have not improved quality of life for many with autism.

  6. Ettina says:

    “On a somewhat controversial aside to this genetic testing, why haven’t we yet found a way to genetically identify those who will become autistic following vaccination? If big pharmacy and the government believe so strongly that there is no link, the burden of proof should be on them.”

    And the numerous, numerous studies showing absolutely no link between autism and vaccination somehow don’t count as proof?

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