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 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.