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Deliberating genetic risks: decision-making and disclosure from genetic counselling to the family

Deliberações sobre riscos genéticos: tomada de decisão e comunicação do aconselhamento genético à família

Reference
2022.04025.PTDC
Project Start Date
2023-03-12
Project End Date
2026-09-11
Principal Investigator
Coinvestigator
Scientific Area
Social sciences
Funding Program
Concurso de Projetos de I&D em Todos os Domínios Científicos - 2022 - ICDT

Abstract

The mainstreaming of genomic testing means that people are increasingly identified as being at risk for genetic diseases, and facing decisions about what to do with information they often perceive as both valuable and risky. Genetic information is at the same time deeply personal and inextricably linked to the family, with implications for biological relatives and other family members. Health providers (HPs) typically encourage patients to disclose this information to at-risk relatives, but how patients come to a decision is unclear. This project aims to give a groundbreaking contribution to the field of psychosocial genetics through: uncovering the  trajectory of patient decision-making   about the disclosure of genetic risk information to family members the use of co-design to produce a counselling framework to facilitate decision-making . Much is known about how patients retrospectively describe their disclosure to relatives and the effects it has on themselves and their families, but how health providers (HPs) discuss disclosure decisions in genetic counselling (GC) and how patients actually go through their decisions have been under-explored. By following patients longitudinally during and after GC, we aim to improve our understanding of how their thinking develops and the influence GC and the family have in this process. To keep pace with the biomedical advances, the genomic era is challenged to help patients and families to manage the consequences of genetic information. The disclosure of genetic risk information is essential to allow relatives access to prevention and treatment (when available), and to informed decisions on reproduction and other life-planning choices. Direct contact of patients’ relatives by health services raises complex ethical issues, and so HPs rely on patients to convey risk information to relatives and reinforce the importance of this in GC [1]. Most patients are willing to pass on information, but fulfilling this intention is not straightforward and only a minority of at-risk relatives actually contact health services [2]. Many of the factors relevant to these decisions lie in the patient’s lifeworld, but the framings and discussions between HP and the patient are equally important. An understanding of how GC plays out through time on patient disclosure decisions to family members, however, is lacking. Using an innovative longitudinal multi-methods approach, we propose to investigate the patient journey through the decision-making process. We will do this by examining how the patient thinking unfolds and how it is shaped by counselling and the role of family. Using a sequential combination of ethnographic observations, diary methods and interviews, we will follow people as they make their decision: we will observe GC encounters, patients will gather information on their own thoughts, and we will then conduct interviews to explore the patients' more settled decisions and how the family is implicated in their deliberations. The concept of family entanglements, and the blurred boundaries between genetic risks and relatedness, will be central to understand the experiential trajectory of decision-making. An integrated research design will provide a textured multidimensional empirical foundation of patient decision-making , on which a multi-stakeholder panel will engage in order to co-design a consensus-based counselling framework . Building on the solid experience and interdisciplinary work of our research team, DECIDE will produce knowledge that is still lacking on how the disclosure of genetic risk information to patients’ relatives can be best approached by GC services, and how patients can be best supported in their deliberations toward a decision . It expects to add substantively to the fields of psychosocial genetics and health psychology by providing a novel contribution, with international impact, to advance the translation of genetic information from GC services to its end-users [3]. The research team has an excellent track-record of robust results that inform GC practice and policy, and are grounded on the perspectives of patients, their family members, and HPs. Functional links with patients’ associations and hospitals have been central to our work. Team members are active in (inter)national bodies that steer public policies and standards of professional practice. Project consultants are world renowned experts in clinical genetics and health psychology research. The PI is highly suited to coordinate this project, given his expertise in the psychosocial dimensions of genetic testing, with a particular emphasis on the communication of genetic information in families, and how it stems from GC, and his broad experience in conducting research with heterogeneous participants’ groups.

Institutions

Main Institutions

  • Universidade do Porto Instituto de Investigação e Inovação em Saúde (i3S)

Other Institutions

  • European Huntington Association
  • Universidade de Aveiro (UA)

Funding 211.620,00 €

Fundação para a Ciência e a Tecnologia (FCT) - Portugal

211.620,00 €