Survey talk: Attitudes towards sharing incidental findings from genome research

This past Friday on the Genome Campus, Dr Anna Middleton of the Wellcome Trust Sanger Institute gave an interesting seminar about the method and findings of a survey she had delivered about genome ethics. I was interested because I use surveys in my work to understand people’s attitudes towards and experience of websites, but also because I care about how genomics is perceived or experienced by people both within and outside of science.

Creating an engaging survey experience

A unique aspect of Anna’s survey was the way it used video clips to inform the respondent of a concept before posing a question about their attitudes towards it. I thought the clips were an excellent addition to the survey itself, and the production quality was high (since Anna worked with a film-maker to create them). During Friday’s seminar, we also watched a video from a mainstream broadcaster (Channel 4 news) to highlight how the general public may perceive this relatively new subject.   This helped focus the audience on the central motivation of the genome ethics study – and how important the implications of the survey might be for the future of medical practice.

What are incidental findings (IFs) in genome research?

Anna’s study captured a whole range of feelings, attitudes and perceptions, but this talk was largely about her social science research into people’s attitudes towards incidental findings (IFs) in genome research. IFs are opportunistic findings made in areas of a patient’s genome sequence that were not the focus of the study. That is, the findings had nothing to do with the reason that person’s genome was sequenced in the first place. People have expressed particular concern about this when it comes to sequencing children’s genomes.  For instance, if scientists are investigating the genetic basis for an unknown developmental disorder, should they report a child’s future likelihood for other diseases such as cancer, or dementia? Should they look away from locations in the genome that were not indicated in the original plan?  (This example is particularly relevant, as the survey came out of the “Deciphering Developmental Disorders” (DDD) Group which looks into rare developmental disorders in children).

 

Attitudes towards sharing IFs

A talk from Anna Middleton on the method and findings of a recent study to understand the public’s views regarding incidental findings in genomics

The survey explored the personal impact of IFs on different groups in society

Unlike current clinical tests, which usually have a threshold measurement over which you are said to have a condition (or not), whole-genome sequencing can yield information about your risk of developing a condition in the future. But what does this actually mean to people? How do we emotionally handle this information? What impact does it have on our family members who are genetically related to us? And, as Anna mentioned in her talk, what implications do IFs have for the work of genetics health providers, who have to deliver this information directly to patients? These questions are so important to address, especially where so much is still unknown.

Anna talked about how attitudes towards IFs in the UK (and Europe generally) seem to be quite different to those in the USA. This came up earlier last year during talks by Prof. Les and Barb Biesecker on the Genome Campus as part of the “Society and the Personal Genome” activities. Barb, like Anna, is a genetic counsellor. She talked about her research into people’s feelings around uncertainty using focus groups and other approaches.

 

Return of individual results from exome sequencing: Experiences and preferences

Sketchnote of Barb Biesecker’s talk: Returning individual results from exome sequencing: Experiences and preferences

But what is current policy on IFs in genome research?

Les’s talk was more about the specific differences in national or regional policies about incidental findings for genome research. His personal views on the matter were that we should report IFs because it helps us to identify conditions relevant to patients’ health. The policy specified by the American College of Medical Genetics and Genomics, as quoted by Les in his talk, states that genome researchers should report any IFs found on a ‘minimal list‘ of conditions.

sketchnote

(1/2) My sketchnote of Prof Les Biesecker’s talk on Clinical Genetics (July 2013) – this also covered the controversial area of incidental findings in exome wide studies

Les’s talk went over two pages…

sketchnote of Prof Les Biesecker's talk

(2/2) The second page of my sketchnote of Prof Les Biesecker’s talk on Clinical Genetics (July 2013)

In the UK, there is no specific policy for reporting incidental findings of genome research. However, Anna mentioned that the Wellcome Trust is working on a recommendations document/white paper to advise that a policy is now needed regarding IFs from large-scale genetics research.  The issue is very topical – for example, it is the subject of this recent BMJ paper by Birney (Associate Director of EMBL-EBI) et al., which I read with interest as it was one of the first I had seen where genome research scientists got together with clinicians to write about this sticky – and potentially controversial – area.  If you’re interested, check out Ewan Birney’s commentary on the article, posted on his Blog in December 2013.

Making surveys appealing – especially when they are dealing with complex subjects and emotions

I found Anna’s example of applying a survey to understand people’s values and decision-making in this emotionally-charged arena really inspiring, as I have been known to seem a bit survey-dejected in the past.   I have been reminded that there is an important place for surveys in the user research toolbox.

Of course, it is recognised that surveys are a difficult method to execute well, and take a long time to design, test, deliver and analyse. But Anna’s approach is exemplary!  Her thoughtful, engaging survey design, and the well-planned social media strategy to attract a wide mix of respondents are two things I’m going to take away and try to use myself more when delivering explorative surveys in future.  I think the pressure must have been on to get it right – as findings from this kind of exploratory survey will most likely influence policy and strategy at the highest level.  I look forward to watching for developments!

Useful links

Anna Middleton’s Genome Ethics website

The Genome Ethics Blog (by Anna Middleton)

Deciphering Developmental Disorders (DDD) project website

“DECIPHER” at the Sanger Institute (the scientific project linked with DDD)

Genome ethics survey

Channel 4 news item and story about the genome ethics survey

Paper: Policy challenges of clinical genome sequencing

Caroline Jarrett (aka my survey and forms guru) – see her Slideshare materials on surveys

UX Mastery article: Better User Research Through Surveys

Thanks goes to…

Mary Todd-Bergman for copy editing this post – I’m really grateful for your help!

 

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