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

A study to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests.

Background

Most genetic tests are carried out to confirm a diagnosis. Some people are offered genetic tests for reasons that are only partly medical and where the patient’s personal views and preferences are as important (if not more important), than any medical reasons. The purpose of this research is to understand how patients make these decisions.

Study aim

The study aims to identify the factors that influence the decisions made by genetic counselling patients about proceeding with genetic tests. It will also examine to what extent a patient’s decision-making processes are shaped by their conversation with the healthcare professionals in clinics, and to what extent factors from outside the clinic influence this decision.

Understanding the decision-making process

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.

Patient groups

In this project, we focus on cases where the decision to take a genetic test is for the patient to make. These are patients who are offered a genetic test and are supported by genetic counselling but are not provided with a clinical recommendation, as the genetic test result is of limited clinical utility. Using multiple methods, we examine the communicative context in which patients make their decisions and how their thinking unfolds in this context.

We 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
• prospective parents seeking pre-natal genetic testing, either for a known familial risk or following an antenatal foetal anomaly ultrasound scan.

Developing understanding

We gather data as patients undergo their journey towards a decision. This means we observe the patients' encounters with clinicians and we also ask patients to gather information on their own thoughts, on what people are saying to them, and what other information they are seeking or interacting with.

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 a decision support tool.