Gathering Autism DNA, Part Two: Researchers Respond.

First, some necessary background:

Prior to writing my previous post, I had attempted to contact the researchers involved in the New Zealand study which is gathering autism DNA. After receiving no response for a few days, I had decided to go ahead with my post (which was, after all, my own reflections on these types of studies and why we do or don’t sign up to them). Since I published that post, I received the email of someone responsible for PR of the study, through which I was then able to make contact with one of the researchers who was willing to answer my questions (let’s call them Researcher X). After sending off my questions to Researcher X, I then received a response from the original email, but written by a group of other researchers involved with the study. This new response appears to have been written after reading my post, since they referred to something I only brought up in that post.

By Esther Simpson, via Flickr

By this point, I had four different contact emails (the generic one for inquiries, the PR person, the single researcher I sent specific questions to – Researcher X, and now another generic one that contained replies from other researchers). The response from the group of researchers doesn’t address each of the questions I forwarded to Researcher X, but does incidentally touch upon some of the key issues and concerns. So I have no idea whether I’m still waiting on a reply from Researcher X, or whether this is their collective reply. Rather than spend another few days trying to sort that out, I have enough material to go ahead with a second post at this point, and the issues I’ve had communicating them itself becomes an important part of what I have to say.

The email response from the researchers started and ended with the gratitude they feel towards those who have chosen to take part in their studies. It is clear throughout their response that they are interested in and concerned about the well-being of the participants, in terms of protecting the identity, privacy and samples of the individuals (eg, “[t]he DNA can only be used for this study and no other. Patients and their families can withdraw from the study at any stage (no reason is required) and their sample will either be returned or destroyed depending on their wishes”), and in the way in which those sample are collected:

In some cases a DNA sample may already be stored because the person has undergone a previous test (such as a molecular karyotype). High quality DNA can be isolated from saliva and lower quality from a cheek swab. The other option is a blood sample. We are very aware that this could be a traumatic experience and, if so, it may be possible to collect a sample when another medical procedure is undertaken (i.e. under general anaesthetic). This is going to be a long-term study so we can wait. We absolutely do not want to cause undue stress.”

They also point out that the studies are being conducted in the context of a multidimensional approach towards autism, to “encourage collaboration between researchers, clinicians and the community to investigate the causes of autism.” The specific studies they are conducting, are then best understood within that broader framework. “Our aim is to try to identify either causes or predispositions to autism. Through this work we hope to better understand the biology of autism and ultimately head towards improved diagnosis and therapies.”

Not everyone who signs up may meet the criteria of the studies, and funding will affect how many people can take part in the research, so signing up is only the first step in a long process between registering your interest and having a sample taken. Consent forms are of course part of that process too, and those forms will give potential participants more information and choices. This will include the choice to find out about any incidental findings with potential therapeutic responses: “If a result relating to another condition was found during the testing, and was actionable, it would be reviewed by a clinical geneticist and subsequently tested via an approved clinical testing laboratory, not by our research laboratory.  This would only occur if the individual had consented to receive incidental findings.” (From my point of view, the possibility to identify and respond to these incidental findings, is very attractive.)

Towards the end of their email, they state something which of course particularly caught my eye as a blogger; “[w]e are not particularly fluent in the use of social media...” And it is this point that I want to briefly address too:

One of the challenges science faces is communication with the people. In a world where people refuse vaccines because of autism fears, turn to homeopathy, and hear daily conspiracy theories about Big Pharma and the evils of national health agencies, it has become increasingly important that scientists find a way to convey information in a way that is accurate, accessible, and interesting. Many scientists maintain their own blogs, allowing them to communicate with both scientific peers and joe-public. Relying on mainstream media to do a good job of conveying new findings and information on studies, does not always turn out for the best, as media enjoy their sensationalist headlines and take-away style stories with punchy conclusions. (I have only become aware of these issues ever since I started blogging myself and took an interest in where scientific misinformation came from and the growing movements to counter those misinforming sources, Ben Goldacre is a good example of such a crusader.)

The information I wanted on the studies at issue, I couldn’t find either via the Mind for Minds page or the ARNNZ page (and I struggled to see the relationship between the two pages on top of that). My efforts to find out more information from the researchers took a while to get results (which is understandable considering they have jobs that don’t include communicating with random bloggers). When I did get responses, it was confusing as to who I was meant to be communicating with and through which contacts. Going through this process has highlighted for me the sorts of communication issues that scientists can face. But I think it also shows why it matters to make the effort, because their answers have changed my mind, and I hope in turn I can change others’ minds too.

I have gone from having doubts and concerns and not wanting to be part of the study, to feeling like it would be an exciting privilege to be part of the study. I have been reassured about the protections in place for my son and any samples taken from him. I have a positive view of what the researchers hope to achieve, and the way in which they are going about it. And I am reassured that the down-sides of participating are less than I thought, and the upsides are more than I’d anticipated. I am still very aware of others’ concerns about misuse of the resulting data in such a way that may ultimately hurt the autistic population, but I am also aware that the scientists have no intention of damaging – but rather of helping – that population. Are all my own concerns and worries addressed and gone? No, but they are significantly allayed, so that I will be talking to my husband tonight about signing our son up to the studies.

I am grateful that the researchers took the time to respond to me, and gave me the chance to share it through my blog. I may just be an unpaid blogger, but I am also a Tutor, a Board of Trustees member, a mother; a member of the autism community. In their willingness to communicate with me about the study in the way that they have, the researchers evidence their multidimensional approach of wanting to involve the community in their research.

A final reminder; that you can find out more about the study, the researchers, and register or donate, via this page.

I may yet receive answers to the specific set of questions I forwarded to Researcher X, if I do and it adds to what has already been shared, I shall be posting on that too.

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11 Responses to Gathering Autism DNA, Part Two: Researchers Respond.

  1. Angela says:

    Thanks for this follow up. I appreciate the time you have taken to do this and share with us. I am still very interested in what they specifically perceive the benefit of this knowledge will be for the participants? When I spoke with their PR lady she was only able to tell me “the cause of autism would be established”. Is this something the researchers have commented on to you at all?
    Thanks and Cheers
    Angela

    • Hi Angela,

      The parts from their reply that come closest to answering your question are as follows:

      “Our aim is to try to identify either causes or predispositions to autism. Through this work we hope to better understand the biology of autism and ultimately head towards improved diagnosis and therapies.”

      And then later:

      “You may be right when you say that you or your child may not benefit directly from participation in this study. Indeed it may be many years before this study has a significant impact on health outcomes. The nature of scientific research is such that it is difficult to predict exactly if and when major breakthroughs may occur, but we firmly believe the multi-pronged approach that we are embarking upon with the Minds for Minds initiative gives us the best possible chance of success.”

  2. Mark kent says:

    hello,i get your blog, i am a adult with asperger syndrome.married .3 children. all so have M.E. i take part in a lot lotresearch from a lot universities. autism//aspergers. i have a lot results as well. i have met in person utta frith speaking for45 mins.if you would like too ask me any thing please do. if you would like to e.mail me….mkentdad12@outlook.comOUR YOUNGEST SON AL SO HAS ASPERGERS.married for 13 years. we have 2,boys and 1,girl.my wife has PEOPLE being horrible //nasty too her saying things like …., how could you marry a person like that,..how could you have children with a person like that..we live in cambridgeshire.England look forward too your reply mark Date: Tue, 27 Aug 2013 01:25:56 +0000 To: mkentdad12@outlook.com

  3. grahamta says:

    I used to work for Big Pharma and what you write above is true and I am so glad they responded to you to explain. There are usually huge consent forms associated with the studies, one of which is a “future use” study consent if they want to use the samples for later and they need to spell out exactly how they will use them. You can always say no at the consent form point too, before anything is taken from your child.

  4. Hilary says:

    Thank you for taking the time to investigate these important issues. Disability research ethics is one of my interests and I was on one of the Ministry of Health ethics committees for a few years until last year, so I find this discussion fascinating. I do not doubt at all the good intentions of all the people at this research centre and they have covered all the current ethical safeguards as required by the committees, and probably more. I would still be interested to know how they negotiate consent with children and at what ages, or do they delegate it all to parents (a current area of ethical debate)? And what does their Participant Information Sheet look like, as there is a skill in getting all the relevant information into something short and easy to understand?

    But my research is informed by the history of eugenics and also by following ethical debates including at bioethics conferences. At this point in time there is nothing to worry about at all for research participants – it is all very ethical and transparent. But times can change and different people can take over such projects with motivations that might be more concerned with making money or denigrating autism and autistic people. In the past when eugenics was powerful ordinary citizens and clinicians were complicit in exploiting disabled people and their tissue for their own ends, and the justification was that was that disabled lives were ‘unworthy of life’ . For example there were collections of children’s brain tissue taken without consent during the Nazi era which were still in use by the implicated doctors until the 1990s in their new careers in countries such as the US. It took decades for the profession to stop such practices. This is why ethics committees are so careful with projects collecting human tissue.

    My other concern relates to new surveillance powers. A few years ago we could not have imagined the ability of governments and others to surveil our everyday lives and communications. In NZ the recently passed GCSB Bill means ordinary citizens have little electronic privacy any more. What will be the situation in the future of the now securely protected genetic data of NZ autistic children? In a worse case scenario it could be possible that it could be accessed and used against those children and their families in ways we can’t imagine today.

    This genetic autism information is also very valuable biodata and many pharmaceutical companies would love to get their hands on it. Particularly if it includes rare Maori and Pacific material. There are also cultural considerations about tissue, and many ethnic groups have concerns that storage and disposal are done in culturally sensitive ways.

    Most people participate in research (especially in NZ) for altruistic reasons. Research is a good thing and it is good people want to participate in this current research. But for fully informed consent I also think people should be aware of potential implications too.

  5. >>(From my point of view, the possibility to identify and respond to these incidental findings, is very attractive.)
    I understand totally and completely.

    FORM
    MNG-NGS NEXT GENERATION DNA SEQUENCING TEST ORDER FORM
    NEUROLOGIC DISORDERS
    COGNITIVE/NEUROBEHAVIORAL
    INTELLECTUAL DISABILITY/AUTISM PANELS
    (NGS325)
    INTELLECTUAL DISABILITY, COMPREHENSIVE; 191GENES+MT DNA

    They then go into syndromic and non-syndromic testing, whatever that means. At one time I had found the 191 genes tested for and their names, but can’t find it now. This is a genetic testing lab near Atlanta, Georgia, USA. If I find it, I’ll try to copy/paste it to my blog, so you can see what is tested for. I’ll send a link.

  6. Here is a link, not to the individual testing done for Intellectual Disorder/Autism…but for all neurological disorders. I noticed Neurofibromatosis was outside of those 193 tests http://www.medicalneurogenetics.com/assets/dr/MNG_NGS_Test_Requisition_Oct2012.pdf also here: http://www.medicalneurogenetics.com/assets/dr/MNG_NGS_Test_Requisition_Oct2012.pdf Here is a mitochondrial test order form. https://www.medicalneurogenetics.com/assets/dr/Mito%20Disease%20TestReq.pdf

    Way, way way information overload for me. Supposedly, our insurance will pay for this.

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