Framing of decision-making in predictive and prenatal genetic tests
Research type
Research Study
Full title
Framing the trajectories of decision-making in the context of predictive and prenatal genetic and genomic tests
IRAS ID
234682
Contact name
Angus J. Clarke
Contact email
Sponsor organisation
Cardiff University
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Summary of Research
Decisions about genetic testing raise complex issues for practitioners, patients and families. This is especially true where decisions on tests are made on personal rather than medical grounds. However, little is known about how patients make their own decisions about taking a genetic test. This study explores how people make decisions where the decision to test rests with the patient.
This project focuses on situations where patients make difficult personal decisions, particularly (i) predictive tests where the test results is of limited clinical use, and (ii) high risk prenatal genetic testing. In these situations, the motivation for conducting the test comes from the patient because the test results may have little effect on the management of the patient’s condition, or the test procedure involves risks that may not be justified on medical grounds alone.
Exploring how patients come to their decision will involve following a patient from when they are presented with the options, through to their reflection on their experience. This will mean observing genetics consultations where patients are presented with their options, asking these patients to record their thoughts as they consider their options, and observing consultations where the patient and consultant settle on a decision. This can take place over the course of a few weeks for patients of prenatal clinics, and up to three months for those discussing predictive (e.g. Huntington's Disease) testing. Patient involvement ends with an interview that takes place at least a month after they have had their test results.
Our aim is to improve our understanding of how patients come to a decision about a test outside of the clinic, to better understand how they make their decision. By improving our understanding of the connection between genetic counselling and the personal lives of patients, we hope to improve genetic service practice.Summary of Final Report
We have collected a range of data types to give insights into the factors that influence the decisions patients make about predictive genetic testing and the management of pregnancies affected by possibly genetic conditions. While retrospectove interview data is a common type of data used in other similar studies, fewer studies use transcripts of clinical consultations and almost no other studies have used contemporaneous diary data kept by participants. These additional sources of data have given important insights into the complexity and nuance of such factors as the influence of family, friends and professionals on patients' decisions.
Unfortunately, while recruitment to the predictive genetic testing arm of the study was satisfactory, recruitment to the prenatal genetics arm was very disappointing and data collection fell short. While we had expected this to be challenging, we faced two major additional and unexpected problems: (i) the decision by REC to impose a burdensome consent process (which was eventually reversed in line with HRA guidance, but which in effect denied us recruitment for a year) and then - once that barrier had been overcome - (ii) by the challenge of COVID and the banning of researchers from clinical spaces, including antenatal clinics.
We have learned a lot from the project despite these problems but the limitations have, of course, been disappointing.REC name
Wales REC 1
REC reference
18/WA/0127
Date of REC Opinion
22 May 2018
REC opinion
Further Information Favourable Opinion