EXPLORING THE IMPACT OF GENETIC COUNSELLING IN FAMILIAL NEURODEGENERATIVE DISEASES: SYSTEMATIC REVIEW

Abstract

Background: Familial neurodegenerative diseases such as Huntington’s disease and familial Alzheimer’s disease pose complex genetic, psychological, and ethical challenges. Genetic counselling supports individuals and families in understanding and managing inherited risks.

Objective: To systematically review the impact of genetic counselling on psychological outcomes, decision-making, family communication, and satisfaction among individuals at risk for familial neurodegenerative diseases.

Methods: A comprehensive literature search was conducted across PubMed, Scopus, and PsycINFO for empirical studies on genetic counselling in familial neurodegenerative disorders. Studies were screened and quality-assessed following PRISMA guidelines, with a narrative synthesis of findings.

Results: Twenty-one studies met inclusion criteria. Genetic counselling reduced anxiety and decisional conflict in the short term and improved psychological adaptation. Testing uptake rates were moderate, influenced by fear and ethical concerns. Family communication of genetic risk remained challenging, with emotional barriers limiting disclosure. Satisfaction with counselling was generally high when multidisciplinary support was provided.

Conclusions: Genetic counselling is essential in managing familial neurodegenerative diseases, supporting informed decision-making and psychological coping. Further research is needed on long-term outcomes, communication interventions, and equitable access to services.