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Genetic testing in dementia-A medical genetics perspective.
Aamira J Huq1,2, Adrienne Sexton1, Paul Lacaze1,3
1Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
International Journal of Geriatric Psychiatry
|March 29, 2021
Summary
Genetic testing can aid dementia diagnosis, especially in early-onset cases. Clinicians need guidance on genetic testing practicalities, including when to test and genetic counseling for dementia patients and families.
Area of Science:
- Neurology
- Genetics
- Geriatrics
Background:
- Genetic causes of dementia present unique diagnostic and management challenges.
- Clinicians often lack awareness of genetic testing protocols and counseling for dementia patients.
Purpose of the Study:
- To provide guidance to clinicians on clinically relevant genetics for dementia patients.
- To review genetic testing practicalities, including indications, methodologies, and counseling.
Main Methods:
- Comprehensive PubMed search for dementia genetics studies up to March 2020.
- Inclusion of composite cases derived from patient file reviews.
Main Results:
- Increased risk of genetic dementia identified in families with Mendelian patterns and early onset (before 65).
- Discussion of common genetic dementia syndromes (Alzheimer's, FTD, vascular, LBD) with case studies.
- Overview of current genetic technologies and dementia-specific genetic counseling issues.
Conclusions:
- Genetic testing can potentially shorten the diagnostic timeline for some dementia cases.
- Genetic testing offers advantages but requires careful consideration of its pros and cons.
Keywords:
clinical geneticsdementia geneticsearly onset dementiagenetic counselling in dementianext generation sequencingMore Related Videos
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