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Published on: January 7, 2019
Genetic testing practices for Charcot-Marie-Tooth type 1A disease
Renee Tousignant1, Angela Trepanier, Michael E Shy
1Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan, USA.
Muscle & Nerve
|August 22, 2013
Summary
Specialty Charcot-Marie-Tooth disease type 1A (CMT1A) centers adapted genetic testing practices earlier than outside physicians. This shift towards PMP22 duplication testing improved diagnosis efficiency and reduced costs for CMT1A patients.
Area of Science:
- Genetics
- Neurology
- Medical Diagnostics
Background:
- Charcot-Marie-Tooth disease type 1A (CMT1A) is a genetic disorder resulting from a PMP22 gene duplication.
- The distinct electrical phenotype in CMT1A aids in directing genetic diagnostic strategies.
- Comparison of diagnostic approaches between specialized CMT centers and general physicians was examined.
Purpose of the Study:
- To compare the diagnostic rates and genetic testing practices for CMT1A between specialty CMT centers and outside physicians.
- To evaluate the adoption of updated genetic testing methodologies over time.
Main Methods:
- A retrospective chart review of 102 CMT1A patients seen at a specialty clinic from 2001-2009.
- Data collected included nerve conduction studies, family history, genetic testing dates, and testing types (single gene vs. panel).
Main Results:
- Specialty clinics initiated PMP22 duplication testing earlier, potentially lowering costs.
- Both specialty and non-specialty physicians transitioned from panel testing to single PMP22 gene testing by the end of the study period.
Conclusions:
- Specialty centers demonstrate faster adaptation to evolving genetic testing practices compared to non-specialty settings.
- Anticipated changes in genetic testing technologies will necessitate adjustments in diagnostic algorithms for CMT1A.
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