Do Participants in Genome Sequencing Studies of Psychiatric Disorders Wish to Be Informed of Their Results? A Survey Study

<div><p>Objective</p><p>As large-scale genome sequencing technology advances, concerns surrounding the reporting of individual findings to study volunteers have grown and fueled controversy. This is especially true in mental health research, where the clinical importance of sequencing results is particularly unclear. The ethical, legal, and social issues are being widely debated, but less is known about the attitudes of actual study volunteers toward sequencing studies or what they wish to learn about their DNA sequence and its health implications. This study provides information on psychiatric research volunteers’ attitudes, beliefs, and concerns with respect to participation in DNA sequencing studies and reporting of individual results.</p><p>Method</p><p>We conducted a pilot study using a questionnaire that we developed to assess what information volunteers in an ongoing family study of bipolar disorder would like to receive if they underwent genome sequencing, what they would do with that information, and what concerns they may have.</p><p>Results</p><p>Almost all of the respondents were willing to participate in genome sequencing. Most respondents wished to be informed about all their health-related genetic risks, including risks for diseases without known prevention or treatment. However, few respondents felt well informed about the nature of genome sequencing or its implications for their health, insurability, or offspring.</p><p>Conclusions</p><p>Despite generally positive attitudes toward genome sequencing among study volunteers, most are not fully aware of the special issues raised by genome sequencing. The attitudes of study volunteers should be considered in the debate about the reporting of individual findings from genome sequencing.</p></div

What would be the most important things to know?

<p><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0101111#pone-0101111-g001" target="_blank">Figure 1</a> illustrates participants’ responses to the survey question, “What would be the most important [health information] to know?” in a word cloud, with size directly related to the commonality of the word used in the responses. The word cloud was created using online software at <a href="http://www.tagxedo.com" target="_blank">www.tagxedo.com</a>. We entered the text from the participants’ responses free responses. For clarity, we removed common everyday words, combined related words, and set the emphasis to 80%, the maximum word count to 50, tightness to 100%, color variation to 50%, and spread frequency to 20. We edited the style and format for legibility.</p

Participant characteristics.

1<p>Denominator is 58 within each category.</p>2<p>Rounded to nearest whole percent.</p

Highlighted survey responses.

1<p>Denominator may not equal 58 due to missing responses or multiple answers possible.</p>2<p>Rounded to nearest whole percent.</p

Inter-rater agreement and reliability of the assessment of lithium response in the two-stage case-vignette rating procedure: kappa and intra-class correlation analysis.

<p>TS: total score.</p><p>ICC: intra-class correlation.</p><p>CI: confidence interval.</p>*<p>Mixed and random effects models.</p>§<p>70 raters.</p>¶<p>48 raters.</p

Empirical and theoretical distributions of the total score in the Consortium on Lithium Genetics sample.

<p>Frequentist, <b>A</b>, and Bayesian minimum message length, <b>B</b>, mixture modeling identify three subpopulations of non responders (grey), partial responders (red), and full responders (blue) in total scores of 1,308 bipolar disorder patients characterized for response to lithium maintenance treatment.</p

Number of raters from the Consortium on Lithium Genetics (ConLiGen) centres participating in the two-stage case-vignette rating procedure for inter-rater reliability and agreement.

<p>ConLiGen: Consortium on Lithium Genetics.</p>*<p>Hokkaido, Osaka, Tokio, Riken Brain Science Institute.</p

Distribution of total and A scores in the Consortium on Lithium Genetics sample.

<p>Histogram plot of the scale scores in 1,308 bipolar disorder patients characterized for response to lithium maintenance treatment.</p