The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; f...
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-02-01
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| Series: | Biology |
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| Online Access: | https://www.mdpi.com/2079-7737/13/2/93 |
| _version_ | 1827344046763278336 |
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| author | Laynie Dratch Tanya M. Bardakjian Kelsey Johnson Nareen Babaian Pedro Gonzalez-Alegre Lauren Elman Colin Quinn Michael H. Guo Steven S. Scherer Defne A. Amado |
| author_facet | Laynie Dratch Tanya M. Bardakjian Kelsey Johnson Nareen Babaian Pedro Gonzalez-Alegre Lauren Elman Colin Quinn Michael H. Guo Steven S. Scherer Defne A. Amado |
| author_sort | Laynie Dratch |
| collection | DOAJ |
| description | Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of <i>SORD-</i>neuropathy, <i>HADHB</i>-related disease, <i>ATXN2</i>-ALS, <i>MECP2</i> related progressive gait decline and spasticity, and <i>DNMT1</i>-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs. |
| first_indexed | 2024-03-07T22:41:20Z |
| format | Article |
| id | doaj.art-10e85a1fa617400bbfe8c2f15de2799c |
| institution | Directory Open Access Journal |
| issn | 2079-7737 |
| language | English |
| last_indexed | 2024-03-07T22:41:20Z |
| publishDate | 2024-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biology |
| spelling | doaj.art-10e85a1fa617400bbfe8c2f15de2799c2024-02-23T15:08:10ZengMDPI AGBiology2079-77372024-02-011329310.3390/biology13020093The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular ClinicsLaynie Dratch0Tanya M. Bardakjian1Kelsey Johnson2Nareen Babaian3Pedro Gonzalez-Alegre4Lauren Elman5Colin Quinn6Michael H. Guo7Steven S. Scherer8Defne A. Amado9Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USADepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USAAdvances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of <i>SORD-</i>neuropathy, <i>HADHB</i>-related disease, <i>ATXN2</i>-ALS, <i>MECP2</i> related progressive gait decline and spasticity, and <i>DNMT1</i>-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.https://www.mdpi.com/2079-7737/13/2/93neurogeneticsgenetic testinggenetic counselingneuromuscular |
| spellingShingle | Laynie Dratch Tanya M. Bardakjian Kelsey Johnson Nareen Babaian Pedro Gonzalez-Alegre Lauren Elman Colin Quinn Michael H. Guo Steven S. Scherer Defne A. Amado The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics Biology neurogenetics genetic testing genetic counseling neuromuscular |
| title | The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics |
| title_full | The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics |
| title_fullStr | The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics |
| title_full_unstemmed | The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics |
| title_short | The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics |
| title_sort | importance of offering exome or genome sequencing in adult neuromuscular clinics |
| topic | neurogenetics genetic testing genetic counseling neuromuscular |
| url | https://www.mdpi.com/2079-7737/13/2/93 |
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