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In the ever-evolving landscape of neurodegenerative diseases, recent genetic insights have opened new avenues of hope for prevention and early intervention in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).1 2 As our understanding of these devastating conditions grows, the complexity of managing individuals at genetic risk increases.
The identification of numerous genes associated with ALS and FTD has unveiled a critical window into the presymptomatic phases of these conditions. This insight has led to a growing recognition of a prodromal stage in ALS, characterised by subtle brain changes that precede overt clinical symptoms.3 4
This knowledge, while invaluable, brings with it a series of ethical, psychological and practical questions. When should we start monitoring carriers? When is the right time to initiate disease-specific treatment? And how should this information be conveyed to individuals and their families? These are just a few of the critical challenges clinicians must face as we enter this new frontier of genetically informed medicine.
The guidance presented by Benatar et al 5 offers a comprehensive framework for clinicians navigating this intricate terrain, addressing a timely need in an era of emerging clinical trials for genetic ALS (figure 1) .
Key Components of Genetic Counseling in ALS/FTD.
Benatar et al underscore a crucial principle: genetic testing is inseparable from comprehensive counselling, forming an integrated process that extends beyond mere DNA analysis. The decision to undergo genetic testing is profoundly personal and fraught with potential implications for one’s future, family relationships and even employment or lifestyle prospects. Consequently, thorough pretest consultation and genetic counselling are essential. These sessions provide an opportunity to understand the individual’s disease experience, offer both compassion and information and assist patients in grasping the full implications of their test results.
We must not overlook that access to genetic testing and counselling …
Footnotes
Contributors MG is the guarantor and took full responsibility for the content of this editorial.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests MG has received grants from the American Academy of Neurology, the American Brain Foundation and the ALS Association.
Provenance and peer review Commissioned; internally peer reviewed.