Framing the trajectories of decision-making in the context of predictive and prenatal genetic and genomic tests.

Lead Research Organisation: Cardiff University
Department Name: School of Medicine

Abstract

The offer, interpretation and consequences of genetic testing raise complex issues for counsellors, patients and families. These have received much attention but one important area that is little understood is how patients come to a decision about taking a genetic test (or not). Much is known about how people retrospectively describe their decision-making process and the effects of genetic knowledge on themselves and their families but less is known about how counsellors discuss the implications of taking genetic tests with patients and much less is known about how people make their decisions. By following people during this process, we aim to improve our understanding of how their thinking develops and the other people and factors that influence this. This is particularly important at a time when ever more information about genetics is communicated online, in newspapers and in popular culture, and as families gain more experience of dealing with genetics services. Our proposal is to focus on cases where the decision to take a genetic test is for the patient to make, supported by genetic counselling but without a clinical recommendation, as the genetic test result is of limited clinical utility.

Using multiple methods, we propose to examine the communicative context in which patients make their decisions and how their thinking unfolds in this context. We will focus on the experiences of three groups of patients: patients seeking predictive genetic testing for a neuro-degenerative condition (e.g. Huntington's Disease, HD); patients seeking predictive genetic testing for a condition where testing has little utility or it is deferred; and prospective parents seeking pre-natal genetic testing, either for a known familial risk or following an antenatal foetal anomaly ultrasound scan. These cases will illuminate different experiences that patients may have in deciding on a genetic test. The case of HD will show how a patient settles on a decision to take a test knowing a 'bad' outcome foretells a future of impairment. The predictive test of little or deferred utility will mostly involve young adults and will illuminate the experience of wrestling with a decision in a formative period in life with no immediate clinical implications. Prospective parents working with the genetics service in light of a familial risk of a genetic condition will illuminate the importance of personal and family experience in the decision process, while those referred after an ultrasound anomaly scan will shed light on the experience of adjusting to unexpected information in a short period of time. In each case, patients and their families are faced with complex information about tests, testing pathways and potential outcomes.

By following people as they make their decision we will observe the clinical encounters and the patients will gather information on their own thoughts, on what people are saying to them, and what other information they are seeking or interacting with. While fully aware of the need for great ethical sensitivity in this enquiry, we will document how genetic information from outside the clinic (as framed by scientists, marketers, journalists, charities and special interest groups) is brought into the clinic discussion and the patients' reports of their own thinking. The conversations between patients and counsellors in clinic are important to this process, but this conversation is increasingly relativized by rapidly evolving scientific insights and supplemented by outside perspectives. Combining insights from all involved will enable us to develop our understanding of how patients come to their decision, and the effect of outside ideas and framings on this process. Simultaneously, by comparing the thinking of the different groups of patients, we will gain insight into the effect of different experiences of time on this thinking, and explore whether and how these reflections might be facilitated by decision support tools.

Planned Impact

Because it investigates how people make their decision about taking a genetic test, this study will have an impact on service users, health professionals, educators and policy makers.

Service users: Making a decision to take a genetic test raises issues for service users. How will they feel if the test confirms their worst fears? How will different members of their family feel about the results? What will the implications be for their career, for life insurance and house purchase, their future as a family? Genetic counsellors have been careful to raise these various aspects of a decision with service users. However, little is known about what service users actually think about as they make their decisions. By gathering insights into patients' reflections and what they weigh up and discuss outwith the clinic setting, we hope to refine and enhance the value of genetic counselling practice for service users.

Huntington's Disease (HD): Much research has been conducted on the psychological impact of predictive testing and on how people explain their decision to take a predictive test for HD and other comparable, severe and untreatable, neurodegenerative disorders. Researchers have explored the potential impact (particularly the risk of suicidal ideation) on those taking the test. By following people on the journey towards their decision, we will develop insight on the influences that are helpful or otherwise. This will be particularly important for the Huntington's Disease Association, given their interest in supporting people facing the risk of disease, and who may be considering a decision on whether (or when) to seek genetic testing.

Pre-natal genetics clinic: We will work closely with the range of health professionals in the high-risk prenatal genetics clinics, the foetal medicine clinics and the foetal cardiology clinic. These include not only genetic counsellors and clinical genetcists but also midwives, obstetricians and (in Cardiff) a paediatric cardiologist. We will explore how women accessing these services make their decisions. Insights developed in this process will help health professionals to develop enhanced ways of supporting these women and their partners.

Genetics professionals: Counselling patients who are considering a predictive test for HD, or a pre-natal test genetics test, involves great skill and expertise. Genetic counsellors work to convey complex scientific information about the test while highlighting what results may mean for the service user and their family. However, despite the volume of research that has focused on the impact of routine antenatal screening, such as the classic work of Rayna Rapp and Barbara Katz Rothman, much less attention has been paid to the high-risk settings to be explored here. Little attention has been paid to how genetic professionals support the decision making of women facing a high risk of foetal abnormality and hardly any research has explored the process of making a decision by the woman and her partner, not only within the clinic but also outside the clinic. We have little understanding of the reflections of these women and couples and their discussions and conversations outside the clinic. Similarly, we have littte understanding of how discussions in clinic interact with these other processes in the lifeworld. We will gather data that will help to fill this void and will, we hope, assist healthcare professionals improve the support they provide these families.

Policy makers: Policy makers have shown an interest in reshaping healthcare services to take a more person-focused approach in which patients and professionals co-produce healthcare outcomes. In the final year of this project, we will work with policy makers to identify ways in which we can incorporate the insights we gain into these decision processes, perhaps in the form of decision support tools that promote and accelerate the learning that patients of specialised services undertake.

Publications

10 25 50
 
Description Member of Public and Professional Policy Committee of the European Society of Human Genetics from 2017 to date. This ESRC project has been helpful in informing my contributions to debates about genetic counselling, the incorporation of genomic information into genetic counselling and debates about how information on the personal and social impact of genetic counselling services can be accessed.
Geographic Reach Europe 
Policy Influence Type Participation in a advisory committee
 
Description Bioethics, Biolaw, Biosociety Research Strand
Amount £833 (GBP)
Organisation University of Bristol 
Department Elizabeth Blackwell Institute for Health Research
Sector Academic/University
Country United Kingdom
Start 03/2019 
End 05/2019
 
Description ESRC-AHRC UK-Japan SSH Connections grants
Amount £38,183 (GBP)
Funding ID ES/S01361X/1 
Organisation Economic and Social Research Council 
Sector Public
Country United Kingdom
Start 01/2019 
End 04/2020
 
Title Audio recording of family discussions about genetic testing decisions. 
Description The recording by family members of family discussions of a very sensitive nature has given us access to important insights into the family experience of an abnormal pregnancy. We are, in effect, recruiting family members as personally motivated co-researchers in an auto-ethnography. This approach has not been used before (to our knowledge). 
Type Of Material Improvements to research infrastructure 
Year Produced 2019 
Provided To Others? Yes  
Impact We have not yet published this development but will do so. We have already presented the approach to several groups of health practitioners and social scientists (as detailed elsewhere in this submission) and are preparing a paper for publication. 
 
Title Patient diaries (including audio logs) in the context of decisions about genetic disorders and genetic tests 
Description The use of patient diaries kept in multimedia formats has resulted in the triangulation of evidence about the personal and social impact of genetic disorders and genetic tests as it is complemented by the audio recording of clinic appointments and also retrospective interviews at the end of the clinical episode. 
Type Of Material Improvements to research infrastructure 
Year Produced 2019 
Provided To Others? Yes  
Impact This general approach of multimedia diaries has been used before by others. We have not yet published our use of it in this context, with triangulation from other clinical sites and retrospective interviews, but we have presented it at several meetings attended by social scientists and healthcare practitioners who are also qualitative researchers. 
 
Title Research Ethics Committee approval for modified process of recruitment-and-consent after appeal to the HRA. 
Description We had a difficulty with the Research Ethics Committee that had approved our research protocol in that they insisted on modifying our recruitment-and-consent process so as to make it more difficult to recruit anyone, especially prenatal genetics patients. They insisted that we obtain written (signed) consent before starting to record a genetic counselling consultation, as well as following the consultation. We thought this was excessively bureaucratic and obstructive and, accordingly, appealed to the Health Research Authority. Our success in this appeal has really helped us increase recruitment, especially of prenatal genetics patients. We are now able to record an initial clinic consultation on the basis of oral agreement, not working through the formal consent form and obtaining a signature to record consent until the end of the patient's first clinic appointment. This is really helpful as patients are often very uncertain as to what the consultation will involve and have other thoughts on their mind before the consultation than questions about research. They are much clearer about the clinical process at the end of the consultation and are able then to consider whether the conversation that has been recorded would be appropriate for the research process or whether they would prefer to have the recording deleted and not to take part in the project. We regard this as an ethically more appropriate way to seek consent as well as being more effective at recruitment. Now, with the consent process being recorded formally only at the end of the first clinic, we are recruiting better and are planning a related research project to be submitted shortly (most probably to the Wellcome Trust) that will draw on this approach in the context of neonatal intensive care. Our successful appeal to the HRA will be helpful for our own future research and perhaps also - as a precedent that we will discuss with colleagues - for the research projects of others. 
Type Of Material Improvements to research infrastructure 
Year Produced 2019 
Provided To Others? Yes  
Impact We have presented this development in talks to health practitioners and to social scientists at the events listed elsewhere in this submission. We will also publish an account of this precedent in a paper being prepared for publication. 
 
Description Parent-professional decisions in neonatal intensive care 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution We have entered into discussions with colleagues in the Medical Ethics unit and the Neonatal Intensive Care unit in Bristol, with both teams successful in applying for small internal university grants to support the collaboration. We are planning to refine our methodology for examining sensitive processes of patient (parent) decision making, extending this to the neonatal intensive care setting, using patient diaries and audio logs and the recording of family conversations. We have held three small workshop discussions about this and will soon be submitting a research grant application to pursue this more fully as a funded project.
Collaborator Contribution Modest funds to support travel to Bristol and refreshments.
Impact Grant application to Wellcome Trust to be submitted in March 2020. Multidisciplinary: social science, medicine, ethics (philosophy).
Start Year 2019
 
Description Meeting of multisite project team with the advisory panel for update on the project, to plan patient group engagement and to plan the rest of the project: 17th December 2019 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact This was a day of presentations from the different centres as to their activities in the project, the problems encountered, and plans for future activities including presentations at conferences and a range of publications, with consideration given to the perspectives of patients and families.
Year(s) Of Engagement Activity 2019
 
Description Presentation in School of Social Science (SOCSCI) to the Cardiff University MESC (Medicine, Science and Culture Research Group) on 29th January 2020. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Presentation and discussion with a focus on the methodological questions raised and addressed by the project.
Year(s) Of Engagement Activity 2020
 
Description Project presentation at the South West of Britain (Supraregional) Clinical Genetics Meeting 17th October 2019 in Bristol. 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact This was a presentation setting out a summary of the current project and leading to a discussion of its implications for clinical practice.
Year(s) Of Engagement Activity 2019
 
Description Project update, reflection on different experiences, and steering group meeting 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact This two day meeting was held in mid December 2018 to provide a forum in which members of the research group could come together to discuss their experiences on the project so far, learn more about the issues raised by the project, and for a steering group to convene to discuss any questions, concerns or advice that they may have of the project team. The meeting was split into two days, with the first focusing on topics of interest to participating professionals and researchers, with the second day focusing on topics of interest to the research team and a steering group meeting. Three academics, including two from overseas, presented papers of relevance to the project, and sparked much conversation among professional practitioners and increased the interest of these practitioners in the project.
Year(s) Of Engagement Activity 2018
 
Description Talk on the current project at seminar in Faculty of Social Sciences, Rikkyo University, Tokyo, Japan on 24th May 2019 by Prof Clarke and Dr Doheny. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact This talk was part of a workshop to establish collaboration between medical and social science colleagues in Cardiff, Bristol and Japan.
Year(s) Of Engagement Activity 2019