Talk by Pepita Stringer

In our penultimate talk of the year, Pepita—who recently joined Horizon Digital Economy Research—will give an update on her work to the lab.

Genetic professionals' views of young adults' considerations for Whole-genome sequencing

I hope to use this slot to present as an opportunity for you to know what my final PhD study found and to improve my talk for Stanford's Medicine X | CHANGE conference, where I will be presenting this September.

I will present an evaluation study with seventeen professional domain experts from the USA and UK, in fields related to genetics and genomics. The study addresses their views of young adults’ considerations for undertaking whole genome sequencing (WGS), receiving results from testing, and sharing them with others.

Prior to this expert evaluation study, young adults were surveyed and interviewed about their views on undertaking WGS and actions related to their WGS results. Variables related to attitudes for undertaking WGS, receiving results and sharing them were identified from the survey of young adults, and in interviews they identified a wealth of issues that they would consider if undertaking WGS. The findings from the young adults provided both context and rationale for the proposed framework’s development. The proposed framework of considerations was developed using thematic analysis from interviews and statistical analysis of surveys with young adults. The framework factors map to the Theory of Planned Behaviour constructs: Attitudes, Perceived Behavioural Control, Subjective Norms and External Factors. 

The domain experts identified their areas of interest, their professional field and the groups they worked with to confirm the relevance of their expertise to the questions. The proposed Individuals’ WGS Pathway and factors identified from the studies with the young adults were presented to our domain experts who were asked three key questions. First, they were asked to examine the proposed pathway of steps an individual would take to have WGS done, receive results, act on them and potentially share them with others. If the domain experts noted anything that they felt needed to be changed with the steps in the pathway, they were asked to indicate what changes they would want. Second, using the list of factors identified by the young adults, the domain experts were asked to indicate factors they felt a young adult is LIKELY to consider before undertaking WGS. The final key question asked them to identify the factors they felt are IMPORTANT for a young adult to consider prior to undertaking WGS.

Results indicate that genetic experts believe young adults are likely to prioritise getting value for money, their interest in self-discovery and their desire to plan when considering undertaking WGS. However the experts felt that the most important considerations for young adults should be the relevance of undertaking WGS, data security issues and their ability to understand WGS undertaking and results.  Experts also felt that young adults may have further considerations that were not identified by the young adult study sample.  A few participants who were audio-recorded, added context, and elaborated on their views and suggestions for the proposed framework. These additional data will be presented as part of this MRL talk.

Findings from these studies will help inform new processes and systems designed to engage young adults so they may be better prepared and able to gain the potential benefits from for undertaking WGS.