Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology
Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, b...
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| Published in | The American journal of psychiatry Vol. 179; no. 3; pp. 189 - 203 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
American Psychiatric Association
01.03.2022
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, beyond associations with categorical diagnoses, the effects on dimensional traits remain unclear for many RGDs. The nature and specificity of RGD effects on cognitive and behavioral traits is an area of intense investigation: RGDs are frequently associated with more than one psychiatric condition, and those studied to date affect, to varying degrees, a broad range of developmental and cognitive functions. Although many RGDs have large effects, phenotypic expression is typically influenced by additional genomic and environmental factors. There is emerging evidence that using polygenic risk scores in individuals with RGDs offers opportunities to refine prediction, thus allowing for the identification of those at greatest risk of psychiatric illness. However, translation into the clinic is hindered by roadblocks, which include limited genetic testing in clinical psychiatry, and the lack of guidelines for following individuals with RGDs, who are at high risk of developing psychiatric symptoms. The Genes to Mental Health Network (G2MH) is a newly funded National Institute of Mental Health initiative that will collect, share, and analyze large-scale data sets combining genomics and dimensional measures of psychopathology spanning diverse populations and geography. The authors present here the most recent understanding of the effects of RGDs on dimensional behavioral traits and risk for psychiatric conditions and discuss strategies that will be pursued within the G2MH network, as well as how expected results can be translated into clinical practice to improve patient outcomes. |
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| AbstractList | Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, beyond associations with categorical diagnoses, the effects on dimensional traits remain unclear for many RGDs. The nature and specificity of RGD effects on cognitive and behavioral traits is an area of intense investigation: RGDs are frequently associated with more than one psychiatric condition, and those studied to date affect, to varying degrees, a broad range of developmental and cognitive functions. Although many RGDs have large effects, phenotypic expression is typically influenced by additional genomic and environmental factors. There is emerging evidence that using polygenic risk scores in individuals with RGDs offers opportunities to refine prediction, thus allowing for the identification of those at greatest risk of psychiatric illness. However, translation into the clinic is hindered by roadblocks, which include limited genetic testing in clinical psychiatry, and the lack of guidelines for following individuals with RGDs, who are at high risk of developing psychiatric symptoms. The Genes to Mental Health Network (G2MH) is a newly funded National Institute of Mental Health initiative that will collect, share, and analyze large-scale data sets combining genomics and dimensional measures of psychopathology spanning diverse populations and geography. The authors present here the most recent understanding of the effects of RGDs on dimensional behavioral traits and risk for psychiatric conditions and discuss strategies that will be pursued within the G2MH network, as well as how expected results can be translated into clinical practice to improve patient outcomes. Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders (NPDs). In this era of intense genomics discoveries, the landscape of RGDs is rapidly evolving. However, there has not been comparable progress to date in scalable, harmonized phenotyping methods. As a result, beyond associations with categorical diagnoses, the effects on dimensional traits remain unclear for many RGDs. The nature and specificity of RGD effects on cognitive and behavioral traits is an area of intense investigation: RGDs are frequently associated with more than one psychiatric condition and those studied to date affect, to varying degrees, a broad range of developmental and cognitive functions. Although many RGDs have large effects, phenotypic expression is typically influenced by additional genomic and environmental factors . There is emerging evidence that using polygenic risk scores in individuals with RGDs offers opportunities to refine prediction , thus allowing for the identification of those at greatest risk of psychiatric illness. However, translation into the clinic is hindered by roadblocks, which include limited genetic testing in clinical psychiatry, and the lack of guidelines for following individuals with RGDs, who are at high risk of developing psychiatric symptoms. The Genes 2 Mental Health Network (G2MH) is a newly funded NIMH initiative that will collect, share and analyze large scale datasets combining genomics and dimensional measures of psychopathology spanning diverse populations and geography. We present here the most recent understanding of the effects of RGDs on dimensional behavioral traits and risk for psychiatric conditions. We discuss strategies that will be pursued within the G2MH network, and how expected results can be translated into clinical practice to improve patient outcomes. Genomic methods are widely used in psychiatric research and are recommended in clinical practice to identify rare genomic variants in patients with neurodevelopmental disorders. However, we still know very little about these variants. The mission of G2MH is to collect and harmonize clinical and genomic data on large groups of individuals who carry such rare variants to understand how they affect cognition and behavior and increase the risk for psychiatric conditions. |
| Author | Donald, Kirsten A Finucane, Brenda Sebat, Jonathan Constantino, John N Gur, Raquel E Robinson, Elise Bearden, Carrie E Swillen, Ann Earl, Rachel K Glahn, David C Jacquemont, Sébastien Bassett, Anne S Eichler, Evan E Scherer, Stephen W O’Donnell-Luria, Anne H Huguet, Guillaume Martin, Christa Lese Vorstman, Jacob A.S Ledbetter, David H Klein, Marieke van Amelsvoort, Therese van den Bree, Marianne B.M Almasy, Laura McDonald-McGinn, Donna M Chawner, Samuel J.R.A |
| AuthorAffiliation | Department of Pediatrics, University of Montreal, Montreal (Jacquemont, Huguet); Sainte Justine Hospital Research Center, Montreal (Jacquemont, Huguet); Department of Psychiatry, University of California San Diego, La Jolla (Klein, Sebat); Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (Chawner, van den Bree); Department of Pediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa (Donald); Neuroscience Institute, University of Cape Town, Cape Town, South Africa (Donald); Autism and Developmental Medicine Institute, Geisinger, Danville, Pa. (Ledbetter, Martin, Finucane); Department of Psychiatry, Washington University School of Medicine, St. Louis (Constantino); Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle (Earl); Division of Human Genetics, 22q and Y |
| AuthorAffiliation_xml | – name: Department of Pediatrics, University of Montreal, Montreal (Jacquemont, Huguet); Sainte Justine Hospital Research Center, Montreal (Jacquemont, Huguet); Department of Psychiatry, University of California San Diego, La Jolla (Klein, Sebat); Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom (Chawner, van den Bree); Department of Pediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa (Donald); Neuroscience Institute, University of Cape Town, Cape Town, South Africa (Donald); Autism and Developmental Medicine Institute, Geisinger, Danville, Pa. (Ledbetter, Martin, Finucane); Department of Psychiatry, Washington University School of Medicine, St. Louis (Constantino); Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle (Earl); Division of Human Genetics, 22q and You Center, Section of Clinical Genetics and Genetic Counseling, Children's Hospital of Philadelphia and Department of Pediatrics, Philadelphia (McDonald-McGinn); Perelman School of Medicine, University of Pennsylvania, Philadelphia (McDonald-McGinn); Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands (van Amelsvoort); Center for Human Genetics, University Hospital UZ Leuven, Leuven, Belgium (Swillen); Department of Human Genetics, KU Leuven, Leuven, Belgium (Swillen); Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston (O'Donnell-Luria); Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Mass. (O'Donnell-Luria); Tommy Fuss Center for Neuropsychiatric Disease Research, Boston Children's Hospital, Boston (Glahn); Department of Psychiatry, Harvard Medical School, Boston (Glahn); Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Almasy); Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Lifespan Brain Institute, University of Pennsylvania, Philadelphia (Almasy); Department of Genome Sciences, University of Washington School of Medicine, Seattle (Eichler); Howard Hughes Medical Institute, University of Washington, Seattle (Eichler); Center for Applied Genomics and Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto (Scherer); McLaughlin Center and Department of Molecular Genetics, University of Toronto, Toronto (Scherer); Harvard T.H. Chan School of Public Health and Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, Mass. (Robinson); Department of Psychiatry, Dalglish Family 22q Clinic, University Health Network, Toronto (Bassett); Department of Psychiatry, Toronto General Hospital Research Institute, University Health Network, Toronto (Bassett); Campbell Family Mental Health Research Institute, Center for Addiction and Mental Health, Toronto Clinical Genetics Research Program, Center for Addiction and Mental Health, Toronto (Bassett); Department of Psychiatry, University of Toronto, Toronto (Vorstman); Centre for Applied Genomics and Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto (Vorstman);Department of Psychiatry and Biobehavioral Sciences, Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles (Bearden); Department of Psychology, University of California, Los Angeles (Bearden); Lifespan Brain Institute, Penn Medicine, and Children's Hospital of Philadelphia, Philadelphia (Gur); Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Gur); Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia (Gur) – name: 1) Department of Pediatrics, University of Montreal, Montreal, Canada – name: 16) Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA – name: 10) Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA – name: 25) Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto – name: 4) MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom – name: 21) he Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada – name: 5) Cardiff University Centre for Human Developmental Science, School of Psychology, Cardiff University, Cardiff, United Kingdom – name: 18) Tommy Fuss Center for Neuropsychiatric Disease Research, Boston Children’s Hospital, Boston, Massachusetts, USA – name: 26) Department of Psychiatry, University of Toronto, Toronto; ON, Canada – name: 22) McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada – name: 7) Neuroscience Institute, University of Cape Town, South Africa – name: 12) Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA – name: 15) Department of Human Genetics, KU Leuven, Leuven, Belgium – name: 27) Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA, USA Department of Psychology, University of California Los Angeles, Los Angeles, CA, USA – name: 9) Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA – name: 20) Department of Genetics, Perelman School of Medicine, Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Penn-CHOP Lifespan Brain Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA – name: 2) Sainte Justine Hospital Research Centre, Montreal, Canada – name: 17) Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA – name: 23) Harvard T.H. Chan School of Public Health, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts – name: 8) Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA – name: 11) Division of Human Genetics, 22q and You Center, Section of Clinical Genetics and Genetic Counseling, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA – name: 13) Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands – name: 14) Center for Human Genetics, University Hospital UZ Leuven, Leuven, Belgium – name: 29) Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children’s Hospital of Philadelphia, Philadelphia, PA, USA – name: 3) Department of Psychiatry, University of California San Diego, La Jolla, CA, USA – name: 24) Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto Department of Psychiatry and Toronto General Hospital Research Institute, University Health Network, Toronto – name: 28) Lifespan Brain Institute, Penn Medicine and Children’s Hospital of Philadelphia, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, PA, USA – name: 6) Department of Paediatrics and Child Health, Red Cross War Memorial Children’s Hospital, University of Cape Town, Cape Town, South Africa – name: 19) Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA |
| Author_xml | – sequence: 1 givenname: Sébastien surname: Jacquemont fullname: Jacquemont, Sébastien email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 2 givenname: Guillaume surname: Huguet fullname: Huguet, Guillaume email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 3 givenname: Marieke surname: Klein fullname: Klein, Marieke email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 4 givenname: Samuel J.R.A surname: Chawner fullname: Chawner, Samuel J.R.A email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 5 givenname: Kirsten A surname: Donald fullname: Donald, Kirsten A email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 6 givenname: Marianne B.M surname: van den Bree fullname: van den Bree, Marianne B.M email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 7 givenname: Jonathan surname: Sebat fullname: Sebat, Jonathan email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 8 givenname: David H surname: Ledbetter fullname: Ledbetter, David H email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 9 givenname: John N surname: Constantino fullname: Constantino, John N email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 10 givenname: Rachel K surname: Earl fullname: Earl, Rachel K email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 11 givenname: Donna M surname: McDonald-McGinn fullname: McDonald-McGinn, Donna M email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 12 givenname: Therese surname: van Amelsvoort fullname: van Amelsvoort, Therese email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 13 givenname: Ann surname: Swillen fullname: Swillen, Ann email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 14 givenname: Anne H surname: O’Donnell-Luria fullname: O’Donnell-Luria, Anne H email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 15 givenname: David C surname: Glahn fullname: Glahn, David C email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 16 givenname: Laura surname: Almasy fullname: Almasy, Laura email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 17 givenname: Evan E surname: Eichler fullname: Eichler, Evan E email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 18 givenname: Stephen W surname: Scherer fullname: Scherer, Stephen W email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 19 givenname: Elise surname: Robinson fullname: Robinson, Elise email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 20 givenname: Anne S surname: Bassett fullname: Bassett, Anne S email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 21 givenname: Christa Lese surname: Martin fullname: Martin, Christa Lese email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 22 givenname: Brenda surname: Finucane fullname: Finucane, Brenda email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 23 givenname: Jacob A.S surname: Vorstman fullname: Vorstman, Jacob A.S email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 24 givenname: Carrie E surname: Bearden fullname: Bearden, Carrie E email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca – sequence: 25 givenname: Raquel E surname: Gur fullname: Gur, Raquel E email: raquel@pennmedicine.upenn.edu, sebastien.jacquemont@umontreal.ca |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/35236119$$D View this record in MEDLINE/PubMed |
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| Copyright | Copyright © 2022 by the American Psychiatric Association 2022 Copyright American Psychiatric Association Mar 2022 |
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| IngestDate | Tue Sep 17 21:32:00 EDT 2024 Fri Sep 13 07:49:17 EDT 2024 Fri Aug 23 04:33:34 EDT 2024 Sat Sep 28 08:07:08 EDT 2024 Thu Mar 03 05:24:55 EST 2022 |
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| Issue | 3 |
| Keywords | Intellectual Disabilities Diagnosis and Classification Autism Spectrum Disorder Genetics/Genomics Neurodevelopmental Disorders Schizophrenia Spectrum and Other Psychotic Disorders |
| Language | English |
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| PublicationTitle | The American journal of psychiatry |
| PublicationTitleAlternate | Am J Psychiatry |
| PublicationYear | 2022 |
| Publisher | American Psychiatric Association |
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| Snippet | Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders. In this era of intense genomics discoveries, the landscape of... Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric disorders (NPDs). In this era of intense genomics discoveries, the... |
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| SubjectTerms | Cognition Cognitive ability Genomics Genotype & phenotype Humans Mental disorders Mental Disorders - diagnosis Mental Disorders - genetics Mental Health Psychiatry Psychopathology |
| Title | Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology |
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