But what is my result?

  • Research type

    Research Study

  • Full title

    But what is my result? Bioethical and clinical perspectives on the concept of what constitutes a result from genome sequencing.

  • IRAS ID

    249060

  • Contact name

    Rachel Horton

  • Contact email

    r.h.horton@soton.ac.uk

  • Sponsor organisation

    University of Southampton

  • Duration of Study in the UK

    3 years, 0 months, 1 days

  • Research summary

    Genetic testing previously tended to work by looking at tiny parts of the genetic code, but genomic tests look at huge amounts of genetic code in one go – they can be seen as ‘trawling’ tests rather than ‘fishing’ for specific genetic changes. Genomic tests can find up to four to five million genetic changes per person. Scientists and clinicians then need to sort through these to identify the important ones, creating a new filtering process in constructing a ‘result’ from genomic tests that wasn’t there before. My research will help inform this process by looking at what patients, families, clinicians and scientists think should form the ‘result’ from genomic tests. What would they want from a genomic result and why?

    My research involves observation of clinic appointments, aiming to see how clinicians and patients currently discuss genomic tests and their results in the healthcare setting. I also hope to learn what patients, clinicians and scientists think about how we should consider genomic results going forward. To explore this, I will undertake interviews with patients, and focus groups with clinicians and scientists, to ask their views about how we should think of genomic results. What sort of information should be included in the results from genomic tests, and how can patient views be meaningfully incorporated in the results creation process? What ethical issues are raised in the navigation from raw genomic data to genomic results?

    I will use grounded moral analysis to probe and interpret the data generated by my research, aiming to produce helpful ways of thinking about genomic results that are grounded in clinical practice and in participants’ own experiences.

  • REC name

    East Midlands - Nottingham 2 Research Ethics Committee

  • REC reference

    19/EM/0024

  • Date of REC Opinion

    18 Jan 2019

  • REC opinion

    Favourable Opinion