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

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Dimond R (2022) Genetic testing and family entanglements. in Social science & medicine (1982)

 
Description We have established:
(i) that our methodological approach to gathering data about patients' decision making, even in the difficult and sensitive area of genetics, is productive. We have recruited patients to provide us with diaries or audiologs made while they have been in the process of making decisions and many have been willing to do this. The uptake has been much better in the context of predictive genetic testing rather than prenatal decisions but the difficulty with access in the prenatal context may have resulted in part from unhelpful decisions made by a Research Ethics Committee. (The Health Research Authority reviewed this and found in our favour but this came too late - shortly before COVID - for us to make up the lost ground).
(ii) that the recording of frank family conversations can give rich and valuable insights into the decision making process of patients,
(iii) that the influences of 'life world factors' on decision making are important and need to be recognised by practitioners if they are to support their patients faced by these problems.
Exploitation Route 1. Genetic counsellors and clinical geneticists will draw on our findings when discussing the factors that shape their patients' decisions. They are eager to extend their understanding of processes that may shape the decisions made by their patients and have shown real interest in our findings at healthcare practitioner events.
2. Training programmes for genetic counsellors and other clinicians working in genetics are already drawing on the insights from this project in helping their students to appreciate many of the life world factors that shape the decisions being made by patients, even before our findings have been published. This is certainly true for the Cardiff University MSc course in Genetic and Genomic Counselling (one of the two such courses in England & Wales).
3. Social scientists and 'empirical ethicists' will develop further applications of our approach to gathering information about the influence of sensitive life-world factors on difficult decisions being made by patients;
Sectors Education,Healthcare

 
Description Our findings have been applied in the Cardiff University MSc course in genetic and genomic counselling (one of the two such training programmes in genetic counselling in England & Wales). We have been using project data to help students appreciate the perspective of patients and the family and societal factors that can shape their decisions. In addition, we have presented our findings to meetings of qualified practitioners (genetic counsellors and clinical geneticists) as well as trainees in UK and Europe. They have expressed great interest in the insights we have developed and told us that these are helpful in guiding their professional practice. We have also shared our preliminary findings with disease support groups, who have expressed great interest although it is less clear how they have used these insights.
First Year Of Impact 2020
Sector Education,Healthcare
Impact Types Societal,Policy & public services

 
Description Co-Chair of Working Group of the British Society for Genetic Medicine on Genetic Testing in Childhood
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
 
Description Influence on genetic counselling practitioners and trainees
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact I have a major role in training many of the genetic counsellors in the UK and have been able to incorporate data from the project into teaching MSc course students and trainee clinicians as well as qualified practitioners in genetic counselling and clinical genetics to appreciate the range of 'life-world' influences from outside the clinic itself on decisions being made by their patients.
 
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. My input also helps to shape the advice and guidance produced by the ESHG, as in its report on Opportunistic Genomic Screening.
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 10/2021
 
Description UKRI CoA Exeter
Amount £24,778 (GBP)
Organisation University of Exeter 
Sector Academic/University
Country United Kingdom
Start 02/2021 
End 07/2021
 
Description UKRI CoA: Framing the trajectories of decision-making in the context of predictive and prenatal genetic and genomic tests (R MEDIC UKRI CLARK CoA
Amount £104,391 (GBP)
Funding ID 519753 
Organisation Cardiff University 
Sector Academic/University
Country United Kingdom
Start 02/2021 
End 07/2021
 
Description UKRI Covid19 Grant Extension Allocation Southampton University
Amount £61,510 (GBP)
Organisation United Kingdom Research and Innovation 
Sector Public
Country United Kingdom
Start 02/2021 
End 07/2021
 
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. The topics considered, and the perspectives from which they are discussed, differ somewhat between the different categories of data so we cannot push the talk of triangulation' very far: What is presented is different rather than simply being viewed from a different position. 
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. Unfortunately, the COVID lockdown occurred shortly after we had this favourable ethics committee decision review so we have not gained very much benefit from this in this project. However, we hope that this will prove very helpful with our next project and also for other researchers, who can use this as a precedent. 
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 entered into discussions with colleagues in the Medical Ethics unit and the Neonatal Intensive Care unit in Bristol in 2019, with both teams successful in applying for small internal university grants to support the collaboration. We worked on developments of 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 as well as ethnographic observation of life on the neonatal care unit. We held three small workshop discussions about this and submitted an unsuccessful grant application on this to Wellcome Trust in early 2020. Since then, COVID occurred and our plans to redevelop the project were delayed as we struggled with recruitment on our current ESRC grant. We have had to build into our ideas for a study of decision making in neonatal intensive care an approach that would be robust in the face of a more prolonged coronavirus epidemic, or if social restrictions continue because it becomes endemic. Of course we hope that 'normal life' will be able to resume and that a more traditional ethnography will be possible for at least part of the project's lifespan (if it is funded), but we cannot assume that. We have at last (January 2021) submitted an application to ESRC to take this work further, incorporating a design that could function well even if COVID continues.
Collaborator Contribution Modest funds to support travel to Bristol and refreshments. Ideas for the way ethics researchers can work alongside social scientists on a project in empirical ethics, especially their involvement in Ethics Discussion Groups with project participants (parents and professionals). Help with developing the application to ESRC that we submitted in January 2021.
Impact Grant application to Wellcome Trust submitted in March 2020 (progressed through the first two stages; unsuccessful at the final, interview stage, although that was not held as an interview, given the constraints of COVID). Grant application to ESRC submitted January 2021: "Prognosis in the NICU: Facts and values in the trajectories of understanding of parents and professionals" ES/W000806/1 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 Oral presentation on project to a mixed audience of practitioners, postgraduate students and academics in Birmingham, England June 2018 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact 26th June 2018. Doheny. Birmingham, England (oral presentation) at Communication, Medicine and Ethics conference. "Story telling and the decision to take a genetic test"
Year(s) Of Engagement Activity 2018
 
Description Plenary talk at a virtual meeting of the UK Genethics Forum, 25th February 2021 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact As one of the founding organisers of the Genethics Forum, I have contributed to the 'practical ethics' of genetic counselling practice in the UK. The Genethcs Forum is a key site within the UK for discussion among practitioners concerning their approach to ethical differences between practitioners and patients of family members. Dr Shane Doheny and I drew heavily on data and analysis from the project in our back-to-back talks about the project because it is so clearly oriented to inform genetic counselling practice.
Year(s) Of Engagement Activity 2021
 
Description Poster presentation 10th-11th February 2020 at Clinical Genetics Society, Wellcome Sanger Genome Campus, Hinxton. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact 10th-11th February 2020. Clinical Genetics Society, Wellcome Sanger Genome Campus, Hinxton. Poster presentation "Family factors in a prenatal clinic: the extended trajectory of a single decision". This attracted interest from medical and genetic counselling colleagues interested in supporting the making of difficult decisions by patients and also by those in setting up training and research in relation to patient decision making.
Year(s) Of Engagement Activity 2020
 
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 2018 
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 at inaugural meeting of UK-France Genomics and Ethics Network, 2019 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact 30th September 2019: Talk at UK-France Genomics and Ethics Network (inaugural meeting, Oxford): "Life World: research participants as co-constructing our knowledge of their deliberations". The 'patient-perspective' conveyed in the talk has contributed to the decisions being made in the network for coordinating policy towards the implementation of genomics in UK and France.
Year(s) Of Engagement Activity 2019
 
Description Team presentations to mixed practitioner/academic audience at COMET conference July 2020 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Communication, Medicine and Ethics Conference (initially Aalborg, Denmark 1st -3rd July 2020 => virtual, with online presentations)
* Doheny and Clarke (oral) : Contingency and authenticity in deliberations on predictive genetic tests for Huntington's Disease
* Clarke, Doheny, Uzun, Lloyd (oral): "Life World: research participants co-constructing our knowledge of their deliberations"
* Ballard, Doheny, Lucassen, Clarke (oral). Three possible futures: patient decision making regarding predictive genetic testing in the clinical genetics setting where there is little or deferred utility
The impact of our presentations was difficult to assess as the meeting was held virtually. However, we have been encouraged to give further presentations at the equivalent meeting this year (2021). The conference participants always comprise a very mixed, hybrid group of healthcare practitioners, ethicists and social scientists interested in language and communication. There would usually be several hundred participants but we had no way to count who attended our sessions on this occasion so my guess has been cautious.
Year(s) Of Engagement Activity 2020
 
Description Three presentations by team members at the European Society of Human Genetics meeting June 2020. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Our project team gave three presentations at this international meeting of genetics practitioners:

* Ballard, oral presentation: "Exploring deliberation and determination of decisions to undergo predictive genetic testing where there is little clinical utility"
* Doheny, Clarke. Spoken presentation: "Minds made up? The scope for deliberation in predictive genetic testing"
* Clarke, Doheny, Uzun: poster presentation: "Family factors in a prenatal clinic: the extended trajectory of a single decision"

The impact of these presentations ion practitioners was difficult to assess, as the meeting was held virtually (because of COVID) instead of being, as planned, at a conference venue at an auditorium in Berlin. We hope it will have helped colleagues to recognise the wide range of social factors that influence patients' decisions and inspired some - those keen to conduct research - to adopt our methods for accessing the very private worlds of patients and families facing difficult decisions about genetics.
Year(s) Of Engagement Activity 2020
 
Description Two posters at European Society of Human Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact The ESHG conference in 2021 was online and it is difficult to know how many participants focused on our posters but we had a definite presence there, with visibility to practitioners and also patient group representatives. The two posters were:
(i) Lisa Ballard, Shane Doheny, Angus Clarke and Anneke Lucassen. The use of reflective diaries to explore the liminal space between clinical encounters in predictive Huntington's disease clinics,
(ii) Shane Doheny, Lisa Ballard, Anneke Lucassen nd Angus Clarke. Patient perspectives on making decisions in predictive genetic testing and in responses to fetal cardiac anomaly.
Our research methods - recruiting patients as co-researchers - certainly gathered some interest. One colleague in clinical psychology from Portugal has since expressed interest in our approach and has involved me in an application for funding for related, follow-on work in Portugal.
Year(s) Of Engagement Activity 2021
 
Description Two talks 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
 
Description Work-in-Progress Roundtable at Communication, Medicne and Ethics (COMET) Conference 2021 (online) 
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 The COMET conferences are hybrid, inter-disciplinary events and this one was no exception, with clinical practitioners present along with educators, social scientists, discourse scholars and medical ethicists. We held a two-session 'rountable' event to gve a platform to our project as well as engaging with a few presentations of other projects. The three presentations on our project were:

(i) Angus Clarke and Srikant Sarangi. A family affair: One prenatal decision

(ii) Shane Doheny. Deliberation and decision in predictive genetics

(iii) Lisa Ballard. Three possible futures: Patient decision making regarding predictive genetic testing in the clinical genetics setting where there is little or deferred utility

We had fruitful discussions with conference attendees who had not previously been aware of our project, some of whom asked for additional information, but I cannot point to any more specific outcomes. It is difficult to estimate how many engaged with the session as it was online and I was moderating the discussion.
Year(s) Of Engagement Activity 2021