دورية أكاديمية
أعرض في EDS

Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.

التفاصيل البيبلوغرافية
العنوان: Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.
المؤلفون: Godown J; Division of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.; BioMarin Pharmaceutical Inc, Novato, CA, USA., Kim EH; Division of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA., Everitt MD; Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lytrivi ID; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Kirmani S; Department of Pediatrics, University of Wisconsin School of Medicine, Madison, WI, USA., Kantor PF; Department of Pediatrics, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA., Ware SM; Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Ballweg JA; Department of Pediatrics, Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Lal AK; Division of Pediatric Cardiology, University of Utah, Primary Children's Hospital, Salt Lake City, Utah, USA., Bansal N; Division of Pediatric Cardiology, Mount Sinai Kravis Children's Hospital, New York, NY, USA., Towbin J; Heart Institute, Le Bonheur Children's Hospital, Memphis, TN, USA., Lipshultz SE; Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, Clinical and Translational Research Center, University at Buffalo, 875 Ellicott Street, Suite 5018, Buffalo, NY, 14203, USA. slipshul@buffalo.edu., Lee TM; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
المصدر: Pediatric cardiology [Pediatr Cardiol] 2024 May 07. Date of Electronic Publication: 2024 May 07.
Publication Model: Ahead of Print
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE
أسماء مطبوعة: Publication: New York Ny : Springer Verlag
Original Publication: [New York, Springer-Verlag]
مستخلص: The use of genetic testing has enhanced the diagnostic accuracy of heritable genetic cardiomyopathies. However, it remains unclear how genetic information is interpreted and incorporated into clinical practice for children with cardiomyopathy. The primary aim of this study was to understand how clinical practice differs regarding sequence variant classifications amongst pediatric cardiologists who treat children with cardiomyopathy. A secondary aim was to understand the availability of genetic testing and counseling resources across participating pediatric cardiomyopathy programs. An electronic survey was distributed to pediatric heart failure, cardiomyopathy, or heart transplantation physicians between August and September 2022. A total of 106 individual providers from 68 unique centers responded to the survey. Resources for genetic testing and genetic counseling vary among large pediatric cardiomyopathy programs. A minority of centers reported having a geneticist (N = 16, 23.5%) or a genetic counselor (N = 21, 31%) on faculty within the division of pediatric cardiology. A total of 9 centers reported having both (13%). Few centers (N = 13, 19%) have a formal process in place to re-engage patients who were previously discharged from cardiology follow-up if variant reclassification would alter clinical management. Clinical practice patterns were uniform in response to pathogenic or likely pathogenic variants but were more variable for variants of uncertain significance. Efforts to better incorporate genetic expertise and resources into the clinical practice of pediatric cardiomyopathy may help to standardize the interpretation of genetic information and better inform clinical decision-making surrounding heritable cardiomyopathies.
(© 2024. The Author(s).)
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معلومات مُعتمدة: HL53392 United States HL NHLBI NIH HHS; HL139968 United States NH NIH HHS
فهرسة مساهمة: Keywords: Cardiomyopathy; Genetic counseling; Genetic testing; Pediatrics
تواريخ الأحداث: Date Created: 20240507 Latest Revision: 20240507
رمز التحديث: 20240508
DOI: 10.1007/s00246-024-03498-6
PMID: 38714589
قاعدة البيانات: MEDLINE
الوصف
تدمد:1432-1971
DOI:10.1007/s00246-024-03498-6