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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Gene Panels for Skeletal Dysplasia and Epilepsy: M ...
Gene Panels for Skeletal Dysplasia and Epilepsy: Maximizing Clinical Utility through Careful Design, Regular Review, and Clinician-Laboratory Collaboration
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Pdf Summary
The document discusses practical considerations for the design of gene panels for epilepsy and skeletal dysplasia/disorder (SD). The goal is to maximize the clinical utility of gene panels and address the lack of standardization in panel design. The recommendations include:<br /><br />1. Including genes for both common and rare genetic conditions on gene panels for epilepsy and SD to ensure completeness and appropriateness. Alternatively, a tiered approach can be used where an extended panel is used if the core panel does not yield satisfactory findings.<br /><br />2. Leveraging orthogonal confirmatory testing methods, such as enzyme activity testing, to increase clinical utility and clarify inconclusive results.<br /><br />3. Encouraging collaboration and knowledge sharing among laboratories and clinicians to facilitate panel design, result interpretation, and follow-up testing.<br /><br />4. Partnering with external bodies, such as MetabERN and ILAE, to standardize gene panels and increase clinician familiarity.<br /><br />The lack of standardization in epilepsy and SD panels is highlighted by the comparison of commercially-available panels, where over half of the genes included are unique to a single lab. Public tools like ClinGen and PanelApp further demonstrate the lack of standardization.<br /><br />The expert opinion was developed through surveys and discussions with specialists from different regions, capturing both laboratory and clinical perspectives. The document also references the ACMG Technical Standard for diagnostic gene panel design as a framework.<br /><br />The barriers to using epilepsy and SD gene panels identified by the expert group include insufficient genes on panels, limited familiarity with testing, and inconclusive results. The document emphasizes the importance of defining the intended use of the gene panel, selecting appropriate genes, considering technical limitations, and providing clear reporting.<br /><br />Overall, the recommendations aim to improve the design and clinical utility of gene panels for epilepsy and SD, leading to more accurate and timely diagnosis of these conditions.
Asset Subtitle
Submitter Only - Barbara Utterback, MS, MBA; Presenting Author - Ahmad Abou Tayoun, PhD, FACMG; Co-Author - Swaroop Aradhya; Co-Author - Mitch Bailey; Co-Author - Laila Bastaki, MD; Co-Author - Sara Dosenovic, MD; Co-Author - Fatih Ezgü, MD; Co-Author - Emmanuela Izzo, PhD; Co-Author - Christina Lampe, MD; Co-Author - James J O'Byrne, PhD; Co-Author - Guillermo Seratti, MD; Co-Author - Catherine Snow, PhD; Co-Author - Christian Staufner, MD; Co-Author - Pasquale Striano, MD, PhD;
Meta Tag
Bone/Joint Abnormalities
Counseling
Genetic Testing
Lysosomal Diseases
Methodology
Musculoskeletal system
Co-Author
Swaroop Aradhya
Co-Author
Mitch Bailey
Co-Author
Laila Bastaki, MD
Co-Author
Sara Dosenovic, MD
Co-Author
Fatih Ezgü, MD
Co-Author
Emmanuela Izzo, PhD
Co-Author
Christina Lampe, MD
Co-Author
James J O'Byrne, PhD
Co-Author
Guillermo Seratti, MD
Co-Author
Catherine Snow, PhD
Co-Author
Christian Staufner, MD
Co-Author
Pasquale Striano, MD, PhD
Presenting Author
Ahmad Abou Tayoun, PhD, FACMG
Submitter Only
Barbara Utterback, MS, MBA
Keywords
gene panels
epilepsy
skeletal dysplasia
clinical utility
standardization
common genetic conditions
rare genetic conditions
orthogonal confirmatory testing methods
collaboration
knowledge sharing
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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