# Predictive genetic testing in amyotrophic lateral sclerosis (ALS): Experiences of decision‐making and engagement with UK genetic counseling services

## TL;DR

This study explores how people in the UK decide on predictive genetic testing for ALS and highlights their varied experiences with genetic counseling services.

## Contribution

The paper identifies diverse information needs and experiences in predictive genetic testing for ALS and contributes to developing a patient decision aid.

## Key findings

- Participants reported varied experiences with genetic counseling, including both positive and negative aspects.
- Information needs were diverse and not always met, affecting decision-making and emotional support.
- Findings informed the development of a patient decision aid for ALS predictive testing.

## Abstract

Predictive genetic testing enables at‐risk relatives of people with amyotrophic lateral sclerosis (ALS, also known as motor neuron disease or MND) to find out if they have inherited the genetic variant identified in their family member and have an increased chance of developing symptoms. As research progresses, eligibility for and interest in predictive testing is increasing. This paper explores the experiences of people making decisions about predictive testing and identifies their information needs over the process. Semi‐structured interviews were carried out with 14 individuals from across the United Kingdom who had, or were considering, predictive testing for ALS. Interviews were carried out via video call or face‐to‐face between March and September 2023, transcribed, and analyzed using inductive framework analysis. Findings illustrate a range of experiences. Interviews suggest variation in practice in terms of the structure of the genetic counseling process and the content of information given. Some expressed positive experiences of genetic counseling, and valued feeling listened to, understood, and supported. Others perceived barriers to accessing testing, felt the information provided was directive or not sufficient to support their concerns and decision‐making. Information needs varied, and whilst people felt satisfied, there were also diverse, unmet information and support needs raised throughout the decision‐making process and beyond. This evidence has been used to support the development of a patient decision aid for predictive genetic testing in ALS.