[How do we manage genetic testing for neurodegenerative diseases?]

Area of Science:

• Neurology
• Medical Genetics
• Psychosocial Medicine

Context:

• Growing knowledge of genetic disease bases increases clinical use of genetic testing.
• Genetic testing is a key diagnostic tool for neurodegenerative diseases.
• Test results have significant psychosocial implications for patients and families.

Purpose:

• To emphasize the necessity of comprehensive genetic counseling alongside genetic testing for neurodegenerative diseases.
• To highlight the psychosocial impact of genetic testing results on patients and their relatives.
• To advocate for multidisciplinary collaboration in providing psychosocial support.

Summary:

• Genetic testing for neurodegenerative diseases requires thorough pre-test and post-test genetic counseling.
• Counseling should clarify clinical benefits, disadvantages, and disclosure of results.
• Psychosocial support necessitates cooperation between neurologists, clinical psychologists, and genetic counselors.
• Neurologists need enhanced knowledge of disease frequency, progression, and treatments to maximize testing benefits.

Impact:

• Ensures patients and families receive adequate psychosocial support to cope with genetic test results.
• Improves the clinical utility of genetic testing by integrating counseling and support.
• Guides neurologists in effectively utilizing genetic testing and managing its implications.
• A forthcoming guideline from the Japanese Society of Neurology will aid members in genetic testing for neurological diseases.