Literature DB >> 30133734

My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.

Jeremy Michelson.   

Abstract

I attended the NSIGHT Ethics and Policy Advisory Board's meeting on sequencing newborns as a research associate in a joint apprenticeship between the University of California, San Francisco, Institute for Human Genetics and the university's Program in Bioethics. But I also came to the meeting with a deeply personal perspective: I had spent nearly my entire childhood in search of a diagnosis and therefore was eager to hear the board's discussion on how to ethically include genomic sequencing early in life. Genomic sequencing in the newborn period could have helped me avoid my diagnostic odyssey by revealing the cause of my condition shortly after birth.
© 2018 The Hastings Center.

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Year:  2018        PMID: 30133734     DOI: 10.1002/hast.882

Source DB:  PubMed          Journal:  Hastings Cent Rep        ISSN: 0093-0334            Impact factor:   2.683


  2 in total

1.  Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Authors:  Renata S Scalco; Alejandro Lucia; Alfredo Santalla; Andrea Martinuzzi; Marinela Vavla; Gianluigi Reni; Antonio Toscano; Olimpia Musumeci; Nicol C Voermans; Carlyn V Kouwenberg; Pascal Laforêt; Beatriz San-Millán; Irene Vieitez; Gabriele Siciliano; Enrico Kühnle; Rebeca Trost; Sabrina Sacconi; Mads G Stemmerik; Hacer Durmus; Biruta Kierdaszuk; Andrew Wakelin; Antoni L Andreu; Tomàs Pinós; Ramon Marti; Ros Quinlivan; John Vissing
Journal:  Orphanet J Rare Dis       Date:  2020-11-24       Impact factor: 4.123

2.  Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.

Authors:  Jonathan S Berg; Jeannette T Bensen; Brooke S Staley; Laura V Milko; Margaret Waltz; Ida Griesemer; Lonna Mollison; Tracey L Grant; Laura Farnan; Myra Roche; Angelo Navas; Alexandra Lightfoot; Ann Katherine M Foreman; Julianne M O'Daniel; Suzanne C O'Neill; Feng-Chang Lin; Tamara S Roman; Alicia Brandt; Bradford C Powell; Christine Rini
Journal:  Trials       Date:  2021-06-14       Impact factor: 2.279

  2 in total

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