Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Miller, David T.; Lee, Kristy; Gordon, Adam S.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Chung, Wendy K.; Gollob, Michael H.; Harrison, Steven M.; Herman, Gail E.; Hershberger, Ray E.; Klein, Teri E.; McKelvey, Kent D.; Richards, C. Sue; Vlangos, Christopher N.; Stewart, Douglas R.; Watson, Michael S.; Martin, Christa Lese

doi:10.1038/s41436-021-01171-4

Cited by 175 publications

(147 citation statements)

References 50 publications

Supporting

Mentioning

126

Contrasting

Unclassified

Order By: Relevance

“…The ACMG Secondary Findings v3.0 is the recently released minimum set of genes recommended for evaluation in a diagnostic exome or genome. 7,8 Carrier status is reported by some labs as a secondary finding. All secondary findings should be available but are optional.…”

Section: Implementation Considerationsmentioning

confidence: 99%

“…The ACMG has established a list of secondary findings analysis as an option and the utility of secondary findings has been established elsewhere. [6][7][8] The limitations of ES in identifying genomic variants should be understood by the ordering clinician. ES typically does not detect intronic variants (unless immediately flanking a targeted exon).…”

Section: Current Statementioning

confidence: 99%

See 1 more Smart Citation

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)

Manickam

McClain

Demmer

et al. 2021

Genetics in Medicine

304

234

View full text Add to dashboard Cite

Section: Implementation Considerationsmentioning

confidence: 99%

Section: Current Statementioning

confidence: 99%

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)

Manickam

McClain

Demmer

et al. 2021

Genetics in Medicine

304

234

View full text Add to dashboard Cite

“…In SF v1.0, The American College of Medical Genetics and Genomics (ACMG) recommended analysis of 56 medically actionable gene-phenotype pairs which was then updated to a panel of 59 genes in v2.0 [97,98]. ACMG SF v3.0, recommending the analysis of SFs in 73 gene-phenotype pairs, was very recently released [99,100]. Of particular interest to the ocular genetics community, ACMG SF v3.0 now includes the RPE65 gene.…”

Section: Expanding Ird Diagnosis Via Whole-gene or Wgsmentioning

confidence: 99%

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Dockery

Whelan

Humphries

et al. 2021

IJMS

View full text Add to dashboard Cite

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.

show abstract

“…Pathogenic and likely pathogenic variants were defined according to the standards and guidelines recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology for the interpretation of genetic variants (9).…”

Section: Methodsmentioning

confidence: 99%

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran

et al. 2021

View full text Add to dashboard Cite

Purpose: Cerebral palsy (CP) is a heterogeneous permanent disorder impacting movement and posture. Investigations aimed at diagnosing this disorder are expensive and time-consuming and can eventually inconclusive. This study aimed to determine the diagnostic yield of next generation sequencing in patients with atypical CP (ACP).Methods: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following conditions: severe intellectual disability, positive family history, brain imaging findings not typical for cerebral palsy, abnormal neurometabolic profile, intractable seizure, normal neuroimaging despite severe psychomotor disability, after pediatric neurologist assessment including neuroimaging and biochemical-metabolic study offered for genetic study.Results: Exome sequencing was done for 66 patients which revealed pathogenic, likely pathogenic, and variants of unknown significance in 36.2, 9, and 43.9%, respectively. We also found 10 new mutations and were able to suggest specific and personalized treatments for nine patients. We also found three different mutations with different phenotypical spectrum in one gene that have not been reported for cerebral palsy.Conclusion: An accurate history and physical examination and determination of patients with atypical cerebral palsy for doing exome sequencing result in improved genetic counseling and personalized management.

show abstract

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Cited by 175 publications

References 50 publications

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)

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)

Next-Generation Sequencing Applications for Inherited Retinal Diseases

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran

Contact Info

Product

Resources

About