Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior...
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| Veröffentlicht in: | Genetics in medicine Jg. 23; H. 11; S. 2029 - 2037 |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
New York
Nature Publishing Group US
01.11.2021
Elsevier Limited |
| Schlagworte: | |
| ISSN: | 1098-3600, 1530-0366, 1530-0366 |
| Online-Zugang: | Volltext |
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| Abstract | Purpose
To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years.
Methods
The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (
n
= 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors.
Results
The literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.
Conclusion
We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID. |
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| AbstractList | To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years.
The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors.
The literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.
We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID. Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years. Methods The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group ( n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors. Results The literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation. Conclusion We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID. To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years.PURPOSETo develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years.The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors.METHODSThe Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors.The literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.RESULTSThe literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.CONCLUSIONWe strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID. PurposeTo develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years.MethodsThe Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors.ResultsThe literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation.ConclusionWe strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID. |
| Author | Kearney, Hutton M. Malinowski, Jennifer Massingham, Lauren J. Miller, Danny Yu, Timothy W. Demmer, Laurie A. Hisama, Fuki M. McClain, Monica R. Manickam, Kandamurugu Biswas, Sawona |
| Author_xml | – sequence: 1 givenname: Kandamurugu surname: Manickam fullname: Manickam, Kandamurugu organization: Division of Genetic and Genomic Medicine, Department of Pediatrics, Nationwide Children’s Hospital, The Ohio State University College of Medicine – sequence: 2 givenname: Monica R. surname: McClain fullname: McClain, Monica R. organization: Scientific and Strategic Affairs, Evidera | PPD – sequence: 3 givenname: Laurie A. surname: Demmer fullname: Demmer, Laurie A. organization: Division of Medical Genetics, Department of Pediatrics, Atrium Health’s Levine Children’s Hospital – sequence: 4 givenname: Sawona surname: Biswas fullname: Biswas, Sawona organization: Division of Adult Genetics, Department of Pathology, University of California San Francisco – sequence: 5 givenname: Hutton M. surname: Kearney fullname: Kearney, Hutton M. organization: Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic – sequence: 6 givenname: Jennifer surname: Malinowski fullname: Malinowski, Jennifer organization: Write Inscite, LLC – sequence: 7 givenname: Lauren J. surname: Massingham fullname: Massingham, Lauren J. organization: Division of Medical Genetics, Department of Pediatrics, Hasbro Children’s Hospital, Alpert School of Medicine at Brown University – sequence: 8 givenname: Danny surname: Miller fullname: Miller, Danny organization: MEPAN Foundation – sequence: 9 givenname: Timothy W. surname: Yu fullname: Yu, Timothy W. organization: Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School – sequence: 10 givenname: Fuki M. surname: Hisama fullname: Hisama, Fuki M. organization: Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34211152$$D View this record in MEDLINE/PubMed |
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To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one... To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more... PurposeTo develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one... |
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| SubjectTerms | ACMG Practice Guidelines Biomedical and Life Sciences Biomedicine Child Exome - genetics Genetics, Medical Genomes Genomics Human Genetics Humans Infant Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Laboratory Medicine Pediatrics Practice Guidelines as Topic United States Whole Exome Sequencing Whole genome sequencing |
| Title | Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) |
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