Literature DB >> 32544666

Long overdue: including adults with brain disorders in precision health initiatives.

Brenda M Finucane1, Scott M Myers2, Christa L Martin2, David H Ledbetter2.   

Abstract

Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single nucleotide genomic variants are among the most common known etiologies, with diagnostic yields approaching for some DBD cohorts. Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma. In the long-term, breakthroughs in the understanding of DBD pathophysiology will hinge on the identification, engagement, and study of individuals with rare genetic DBD etiologies, consistent with successful precision medicine approaches to the treatment of cancer and cardiovascular disease.
Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.

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Mesh:

Year:  2020        PMID: 32544666      PMCID: PMC7736248          DOI: 10.1016/j.gde.2020.05.001

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


  46 in total

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Journal:  Neurology       Date:  2019-01-04       Impact factor: 9.910

3.  The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Authors:  Laura M Amendola; Jonathan S Berg; Carol R Horowitz; Frank Angelo; Jeannette T Bensen; Barbara B Biesecker; Leslie G Biesecker; Gregory M Cooper; Kelly East; Kelly Filipski; Stephanie M Fullerton; Bruce D Gelb; Katrina A B Goddard; Benyam Hailu; Ragan Hart; Kristen Hassmiller-Lich; Galen Joseph; Eimear E Kenny; Barbara A Koenig; Sara Knight; Pui-Yan Kwok; Katie L Lewis; Amy L McGuire; Mary E Norton; Jeffrey Ou; Donald W Parsons; Bradford C Powell; Neil Risch; Mimsie Robinson; Christine Rini; Sarah Scollon; Anne M Slavotinek; David L Veenstra; Melissa P Wasserstein; Benjamin S Wilfond; Lucia A Hindorff; Sharon E Plon; Gail P Jarvik
Journal:  Am J Hum Genet       Date:  2018-09-06       Impact factor: 11.025

Review 4.  SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.

Authors: 
Journal:  Neuron       Date:  2018-02-07       Impact factor: 17.173

5.  Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.

Authors:  Elizabeth M Webber; Jessica Ezzell Hunter; Leslie G Biesecker; Adam H Buchanan; Elizabeth V Clarke; Erin Currey; Orit Dagan-Rosenfeld; Kristy Lee; Noralane M Lindor; Christa Lese Martin; Aleksandar Milosavljevic; Kathleen F Mittendorf; Kristin R Muessig; Julianne M O'Daniel; Ronak Y Patel; Erin M Ramos; Shannon Rego; Anne M Slavotinek; Nara Lygia M Sobriera; Meredith A Weaver; Marc S Williams; James P Evans; Katrina A B Goddard
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

Review 6.  Impact of Precision Medicine in Diverse Cancers: A Meta-Analysis of Phase II Clinical Trials.

Authors:  Maria Schwaederle; Melissa Zhao; J Jack Lee; Alexander M Eggermont; Richard L Schilsky; John Mendelsohn; Vladimir Lazar; Razelle Kurzrock
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Review 7.  Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.

Authors:  Andres Moreno-De-Luca; Scott M Myers; Thomas D Challman; Daniel Moreno-De-Luca; David W Evans; David H Ledbetter
Journal:  Lancet Neurol       Date:  2013-03-18       Impact factor: 44.182

Review 8.  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

9.  Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.

Authors:  Kimberley M Kendall; Matthew Bracher-Smith; Harry Fitzpatrick; Amy Lynham; Elliott Rees; Valentina Escott-Price; Michael J Owen; Michael C O'Donovan; James T R Walters; George Kirov
Journal:  Br J Psychiatry       Date:  2019-02-15       Impact factor: 9.319

10.  Physician-Reported Benefits and Barriers to Clinical Implementation of Genomic Medicine: A Multi-Site IGNITE-Network Survey.

Authors:  Aniwaa Owusu Obeng; Kezhen Fei; Kenneth D Levy; Amanda R Elsey; Toni I Pollin; Andrea H Ramirez; Kristin W Weitzel; Carol R Horowitz
Journal:  J Pers Med       Date:  2018-07-24
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  6 in total

1.  Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

Authors:  Andrés Moreno-De-Luca; Francisca Millan; Denis R Pesacreta; Houda Z Elloumi; Matthew T Oetjens; Claire Teigen; Karen E Wain; Julie Scuffins; Scott M Myers; Rebecca I Torene; Vladimir G Gainullin; Kevin Arvai; H Lester Kirchner; David H Ledbetter; Kyle Retterer; Christa L Martin
Journal:  JAMA       Date:  2021-02-02       Impact factor: 56.272

2.  An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.

Authors:  E Morris; M O'Donovan; A Virani; J Austin
Journal:  Hum Genet       Date:  2021-08-28       Impact factor: 4.132

Review 3.  Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.

Authors:  Brenda M Finucane; David H Ledbetter; Jacob As Vorstman
Journal:  Curr Opin Genet Dev       Date:  2021-01-09       Impact factor: 5.578

Review 4.  Pleiotropy and Cross-Disorder Genetics Among Psychiatric Disorders.

Authors:  Phil H Lee; Yen-Chen A Feng; Jordan W Smoller
Journal:  Biol Psychiatry       Date:  2020-10-10       Impact factor: 13.382

Review 5.  All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders.

Authors:  Daniel Moreno-De-Luca; Christa Lese Martin
Journal:  Curr Opin Genet Dev       Date:  2021-03-25       Impact factor: 4.665

6.  Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety.

Authors:  Chia-Hsiang Chen; Yu-Shu Huang; Ting-Hsuan Fang
Journal:  Biomed J       Date:  2021-08-24       Impact factor: 4.910

  6 in total

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