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

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.

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.