Literature DB >> 33434711

Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.

Brenda M Finucane1, David H Ledbetter2, Jacob As Vorstman3.   

Abstract

Advances in laboratory testing have significantly increased the detection of rare genetic etiologies of neurodevelopmental psychiatric disorders (NPD), particularly developmental delay/ intellectual disability, autism spectrum disorder, and schizophrenia. Establishing a genetic diagnosis has important medical and personal utility for individuals with these conditions. Diagnostic genetic tests for NPD are clinically available but underutilized outside of medical genetics settings. Without clear multidisciplinary consensus recommendations, active involvement of medical specialists working with NPD patients, and practical education and training, the implementation of genetic testing for NPD will continue to lag behind other areas of medicine. In the long-term, collaborative efforts to address educational, logistical, and workforce obstacles will improve patient care and pave the way for targeted, effective NPD treatments.
Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.

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Year:  2021        PMID: 33434711      PMCID: PMC8205959          DOI: 10.1016/j.gde.2020.12.016

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  50 in total

1.  Molecular karyotyping using an SNP array for genomewide genotyping.

Authors:  A Rauch; F Rüschendorf; J Huang; U Trautmann; C Becker; C Thiel; K W Jones; A Reis; P Nürnberg
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

2.  Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society.

Authors:  P A Filipek; P J Accardo; S Ashwal; G T Baranek; E H Cook; G Dawson; B Gordon; J S Gravel; C P Johnson; R J Kallen; S E Levy; N J Minshew; S Ozonoff; B M Prizant; I Rapin; S J Rogers; W L Stone; S W Teplin; R F Tuchman; F R Volkmar
Journal:  Neurology       Date:  2000-08-22       Impact factor: 9.910

Review 3.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

4.  Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.

Authors:  Robert W Davies; Ania M Fiksinski; Elemi J Breetvelt; Nigel M Williams; Stephen R Hooper; Thomas Monfeuga; Anne S Bassett; Michael J Owen; Raquel E Gur; Bernice E Morrow; Donna M McDonald-McGinn; Ann Swillen; Eva W C Chow; Marianne van den Bree; Beverly S Emanuel; Joris R Vermeesch; Therese van Amelsvoort; Celso Arango; Marco Armando; Linda E Campbell; Joseph F Cubells; Stephan Eliez; Sixto Garcia-Minaur; Doron Gothelf; Wendy R Kates; Kieran C Murphy; Clodagh M Murphy; Declan G Murphy; Nicole Philip; Gabriela M Repetto; Vandana Shashi; Tony J Simon; Damiàn Heine Suñer; Stefano Vicari; Stephen W Scherer; Carrie E Bearden; Jacob A S Vorstman
Journal:  Nat Med       Date:  2020-11-09       Impact factor: 87.241

Review 5.  Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Darrel Waggoner; Karen E Wain; Adrian M Dubuc; Laura Conlin; Scott E Hickey; Allen N Lamb; Christa Lese Martin; Cynthia C Morton; Kristen Rasmussen; Jane L Schuette; Stuart Schwartz; David T Miller
Journal:  Genet Med       Date:  2018-06-18       Impact factor: 8.822

6.  Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.

Authors:  Daniel Moreno-De-Luca; Brian C Kavanaugh; Carrie R Best; Stephen J Sheinkopf; Chanika Phornphutkul; Eric M Morrow
Journal:  JAMA Psychiatry       Date:  2020-09-01       Impact factor: 21.596

7.  Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Authors:  Siddharth Srivastava; Jamie A Love-Nichols; Kira A Dies; David H Ledbetter; Christa L Martin; Wendy K Chung; Helen V Firth; Thomas Frazier; Robin L Hansen; Lisa Prock; Han Brunner; Ny Hoang; Stephen W Scherer; Mustafa Sahin; David T Miller
Journal:  Genet Med       Date:  2019-06-11       Impact factor: 8.822

8.  Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS).

Authors:  Julia R Trosman; Christine B Weldon; Anne Slavotinek; Mary E Norton; Michael P Douglas; Kathryn A Phillips
Journal:  Genet Med       Date:  2019-09-10       Impact factor: 8.822

9.  Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.

Authors:  Samuel J R A Chawner; Michael J Owen; Peter Holmans; F Lucy Raymond; David Skuse; Jeremy Hall; Marianne B M van den Bree
Journal:  Lancet Psychiatry       Date:  2019-05-02       Impact factor: 77.056

10.  Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.

Authors:  Christa Lese Martin; Karen E Wain; Matthew T Oetjens; Kasia Tolwinski; Emily Palen; Abby Hare-Harris; Lukas Habegger; Evan K Maxwell; Jeffrey G Reid; Lauren Kasparson Walsh; Scott M Myers; David H Ledbetter
Journal:  JAMA Psychiatry       Date:  2020-12-01       Impact factor: 21.596

View more
  6 in total

Review 1.  A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome.

Authors:  Ania M Fiksinski; Gil D Hoftman; Jacob A S Vorstman; Carrie E Bearden
Journal:  Mol Psychiatry       Date:  2022-10-03       Impact factor: 13.437

2.  Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.

Authors:  Brenda Finucane; Matthew T Oetjens; Alicia Johns; Scott M Myers; Ciaran Fisher; Lukas Habegger; Evan K Maxwell; Jeffrey G Reid; David H Ledbetter; H Lester Kirchner; Christa Lese Martin
Journal:  Genet Med       Date:  2021-11-18       Impact factor: 8.864

3.  The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.

Authors:  Anna Alkelai; Lior Greenbaum; Anna R Docherty; Andrey A Shabalin; Gundula Povysil; Ayan Malakar; Daniel Hughes; Shannon L Delaney; Emma P Peabody; James McNamara; Sahar Gelfman; Evan H Baugh; Anthony W Zoghbi; Matthew B Harms; Hann-Shyan Hwang; Anat Grossman-Jonish; Vimla Aggarwal; Erin L Heinzen; Vaidehi Jobanputra; Ann E Pulver; Bernard Lerer; David B Goldstein
Journal:  Mol Psychiatry       Date:  2021-11-19       Impact factor: 13.437

4.  Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.

Authors:  Maria Isabel Alvarez-Mora; Jordi Corominas; Christian Gilissen; Aurora Sanchez; Irene Madrigal; Laia Rodriguez-Revenga
Journal:  Genes (Basel)       Date:  2021-04-12       Impact factor: 4.096

Review 5.  Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians' attitudes to sociocultural differences between patients across the globe.

Authors:  Justo Pinzón-Espinosa; Marte van der Horst; Janneke Zinkstok; Jehannine Austin; Cora Aalfs; Albert Batalla; Patrick Sullivan; Jacob Vorstman; Jurjen J Luykx
Journal:  Transl Psychiatry       Date:  2022-10-11       Impact factor: 7.989

6.  Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.

Authors:  Y Trakadis; A Accogli; B Qi; D Bloom; R Joober; E Levy; K Tabbane
Journal:  Neurogenetics       Date:  2021-08-07       Impact factor: 2.660

  6 in total

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