Literature DB >> 28055021

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.

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Abstract

Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers, to help them provide quality medical genetic services. Adherence to these recommendations does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these recommendations.Genet Med advance online publication 05 January 2017.

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Year:  2017        PMID: 28055021     DOI: 10.1038/gim.2016.196

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  1 in total

1.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

  1 in total
  34 in total

Review 1.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

2.  ClinGen's GenomeConnect registry enables patient-centered data sharing.

Authors:  Juliann M Savatt; Danielle R Azzariti; W Andrew Faucett; Steven Harrison; Jennifer Hart; Brandi Kattman; Melissa J Landrum; David H Ledbetter; Vanessa Rangel Miller; Emily Palen; Heidi L Rehm; Jud Rhode; Stefanie Turner; Jo Anne Vidal; Karen E Wain; Erin Rooney Riggs; Christa Lese Martin
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

3.  How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?

Authors:  Barbara J Evans; Gail Javitt; Ralph Hall; Megan Robertson; Pilar Ossorio; Susan M Wolf; Thomas Morgan; Ellen Wright Clayton
Journal:  J Law Med Ethics       Date:  2020-03       Impact factor: 1.718

4.  The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.

Authors:  Karen E Wain; Emily Palen; Juliann M Savatt; Devin Shuman; Brenda Finucane; Andrea Seeley; Thomas D Challman; Scott M Myers; Christa Lese Martin
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

5.  ClinVar: improvements to accessing data.

Authors:  Melissa J Landrum; Shanmuga Chitipiralla; Garth R Brown; Chao Chen; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Wonhee Jang; Kuljeet Kaur; Chunlei Liu; Vitaly Lyoshin; Zenith Maddipatla; Rama Maiti; Joseph Mitchell; Nuala O'Leary; George R Riley; Wenyao Shi; George Zhou; Valerie Schneider; Donna Maglott; J Bradley Holmes; Brandi L Kattman
Journal:  Nucleic Acids Res       Date:  2020-01-08       Impact factor: 16.971

6.  Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.

Authors:  Ellen Zirkelbach; Syed Hashmi; Aarti Ramdaney; Leslie Dunnington; Myla Ashfaq; Elizabeth K Nugent; Kate Wilson
Journal:  J Genet Couns       Date:  2017-12-20       Impact factor: 2.537

7.  Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Authors:  Pascal Pujol; Pierre Vande Perre; Laurence Faivre; Damien Sanlaville; Carole Corsini; Bernard Baertschi; Michèle Anahory; Dominique Vaur; Sylviane Olschwang; Nadem Soufir; Noëlle Bastide; Sarah Amar; Michèle Vintraud; Olivier Ingster; Stéphane Richard; Pierre Le Coz; Jean-Philippe Spano; Olivier Caron; Pascal Hammel; Elisabeth Luporsi; Alain Toledano; Xavier Rebillard; Anne Cambon-Thomsen; Olivier Putois; Jean-Marc Rey; Christian Hervé; Caroline Zorn; Karen Baudry; Virginie Galibert; Joseph Gligorov; David Azria; Brigitte Bressac-de Paillerets; Nelly Burnichon; Marc Spielmann; Daniel Zarca; Isabelle Coupier; Olivier Cussenot; Anne-Paule Gimenez-Roqueplo; Sophie Giraud; Anne-Sophie Lapointe; Patricia Niccoli; Isabelle Raingeard; Muriel Le Bidan; Thierry Frebourg; Arash Rafii; David Geneviève
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

8.  Addressing a patient-controlled approach for genomic data sharing.

Authors:  Katherine E Miller; Simon M Lin
Journal:  Genet Med       Date:  2017-04-20       Impact factor: 8.822

Review 9.  Sharing data under the 21st Century Cures Act.

Authors:  Mary A Majumder; Christi J Guerrini; Juli M Bollinger; Robert Cook-Deegan; Amy L McGuire
Journal:  Genet Med       Date:  2017-05-25       Impact factor: 8.822

10.  Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.

Authors:  Juliann M Savatt; Danielle R Azzariti; David H Ledbetter; Emily Palen; Heidi L Rehm; Erin Rooney Riggs; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-18       Impact factor: 8.822

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