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The University of Southampton
Clinical Ethics and Law at SouthamptonResearch

Research project: But what is my result?

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This project is looking at how patients, clinicians and scientists think about genomic results. Through observation of clinical appointments, interviews with patients and families, and focus groups with clinicians and scientists, it aims to explore the nature of genomic results, and how we decide what they consist of.

But what is my result?

Genetic tests used to focus on tiny parts of the genetic code. Clinicians would decide which parts of the genetic code to look at depending on a patient’s symptoms or family history. Scientists would look at these parts in detail, trying to find where the genetic code was different, in order to explain the patient’s health problems.

Progress with technology means that now it is often cheaper and faster to look at all of the genetic code in one go (genomic testing), rather than picking out tiny sections to look at one-by-one. Genomic tests trawl the entire genetic code looking for differences in the code (variants). However, each person has over four million variants in their genetic code, and it wouldn’t be useful to say that all of these formed a ‘result’. Most variants won’t affect health at all. Some might predict health risks that are unrelated to the reason why a patient chose to have a genomic test in the first place, meaning that they are difficult to forecast and may be unexpected. Other variants might increase a patient’s chance of having children with serious illnesses, and there are many variants where no-one knows whether they matter or not. For each genomic test, scientists and clinicians need to filter millions of trawled genetic variants and decide which should form the genomic result which is fed back to the patient.

This means that constructing a ‘result’ from a genomic test raises difficult questions. What sort of variants should scientists be looking to ‘pick out’ in this process? What sorts of variants should patients be told about? What sort of variants might it be better not to know about, and what should scientists and clinicians do if they see these by accident? How can clinicians involve patients in these decisions? These questions are becoming more urgent as genomic testing becomes more widely available.

Currently, most research assumes that we all agree about what genomic results are. Debates focus on what we should do about ‘difficult results’, for example what should be done if scientists and clinicians find a variant that might affect a patient’s health one day, but not for many years. They tend to neglect the filtering process that led to that variant being visible in the first place, and whether this makes a moral difference as to whether it should be thought of as a ‘result’.

I want to explore what patients, clinicians and scientists think should form the ‘result’ from genomic tests, aiming to develop ways of thinking about genomic results that are helpful in the clinic. I plan to observe around twenty clinic appointments where patients and clinicians discuss genomic results, aiming to get a picture of how these are currently described in the clinic. I also plan to interview around twenty patients who are having genomic tests. In my interviews, I will ask patients about their views and experiences around genomic results and what they think clinicians and scientists should do if they’re not sure whether a variant should be thought of as a ‘result’ or not. I will run around ten focus groups with clinicians and scientists, talking through the difficulties that they see in getting from millions of variants per person to a genomic result, and how they think patients can meaningfully be involved in this process. Throughout the course of my project, I will use my website to engage with people more widely about my core question: what is the nature of a genomic result, and how should we decide what it consists of?

For more information please contact Dr Rachel Horton and visit her project website, link below.

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