Communicating Genetic Information in Families with Inherited Late-Onset Neurodegenerative Diseases: A Scoping Review

Abstract

Communicating genetic information within families living with inherited genetic conditions (IGCs), especially incurable and progressive late-onset neurodegenerative diseases (LONDs), presents significant challenges. To date, no literature review has specifically addressed this issue in families with LONDs. To fill this gap, a scoping review was conducted following PRISMA and JBI guidelines. Four databases (Scopus, Web of Science, PubMed, and PsycInfo) were searched, resulting in 31 articles for analysis. Six categories were identified: (i) from whom to whom: communication transmitters and receivers, (ii) what to tell: content and details of communication, (iii) how to tell: communication approach, (iv) when to tell: timing of communication, (v) barriers and reasons for not communicating, and (vi) facilitators and reasons for communicating. Sharing information about LONDs is a multi-step, deliberative process involving several transmitters and receivers. It typically begins with first-degree relatives, with women often assuming a pivotal role in the gathering and dissemination of information, and extends to the wider family. This process includes assessing the family member’s subjective experiences and the potential impact of the information. Fear of stigmatization and discrimination are notable barriers, while feelings of responsibility and moral obligation toward family members are strong motivators for transmitters to communicate. The studies included in this review were all retrospective, primarily utilized a qualitative design, and predominantly focused on families with Huntington's disease. Prospective studies are needed to investigate disclosure decision-making in families with other LONDs and to explore how the potential availability of clinical trials for testing new drugs might influence family communication.