Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study

• Published in: Journal of genetic counseling
• Main Authors: Howard, Jade, Forrest Keenan, Karen, Mazanderani, Fadhila, Turner, Martin R, Locock, Louise
• Format: Journal Article
• Language: English
• Published: United States 16-04-2024
• Subjects: predictive genetic testing; motor neuron disease; qualitative; amyotrophic lateral sclerosis; genetic testing; lived experience
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1002/jgc4.1904

Predictive genetic testing is increasingly available for individuals with a heightened risk of motor neuron disease (MND). However, little is known about how they decide whether or not to get tested, and how they experience this process. This paper reports findings from a constructivist grounded theory-informed interview study with 24 family members of people with identified or suspected inherited MND (iMND). Fourteen did not know their genetic status, and nine had decided to have predictive testing, of whom six tested positive for the pathogenic gene variant identified in their family and three tested negative. One additional person was identified as negative through a parent's negative result. This paper explores the diverse ways people approached testing, and the many factors and motivations involved, based on personal attitudes and goals, experiences of living with genetic risk, and wider family considerations and circumstances. Results were met with a range of emotions; whatever the outcome, the news disrupted each person's view of the future, and they adapted in their own way and time. Support after results was variable and a perceived lack of support impacted coping and the ability to move forwards. This paper situates findings against literature on other genetic conditions, highlighting experiences as grounded in the unique characteristics of iMND. Thus, it emphasizes the need for disease-specific guidelines and support structures around predictive genetic testing in this context. Understanding people's experiences and responding to these needs is particularly timely given the uptake of testing amongst this group is anticipated to rise with increasing access to genetic testing for people with MND, and gene-specific clinical trials.