Literature DB >> 19531980

Whole genome scanning: resolving clinical diagnosis and management amidst complex data.

Sarah E Ali-Khan1, Abdallah S Daar, Cheryl Shuman, Peter N Ray, Stephen W Scherer.   

Abstract

Momentum around the era of genomic medicine is building, and with it, anticipation of the benefits that whole genome analysis (personalized or individualized genomics) will bring for the provision of health care. These technologies have the potential to revolutionize genetic diagnosis; however, the expansive data generated can lead to complex or unexpected findings, sometimes complicating clinical utility and patient benefit. Here, we use our experience with whole genome scanning microarrays, an early instance of whole genome analysis already in clinical use, to highlight fundamental challenges raised by these technologies and to discuss their medical, ethical, legal and social implications. We discuss issues that physicians and healthcare professionals will face, in particular, as the resolution of testing further increases toward full genome sequence determination. We emphasize that addressing these issues now, and starting to evolve our healthcare systems in response, will be pivotal in avoiding harms and realizing the promise of these new technologies.

Entities:  

Mesh:

Year:  2009        PMID: 19531980     DOI: 10.1203/PDR.0b013e3181b0cbd8

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


  27 in total

Review 1.  To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.

Authors:  Gabrielle M Christenhusz; Koenraad Devriendt; Kris Dierickx
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

Review 2.  Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

Authors:  Anne S Bassett; Stephen W Scherer; Linda M Brzustowicz
Journal:  Am J Psychiatry       Date:  2010-05-03       Impact factor: 18.112

Review 3.  Incidental findings from clinical genome-wide sequencing: a review.

Authors:  Z Lohn; S Adam; P H Birch; J M Friedman
Journal:  J Genet Couns       Date:  2013-05-26       Impact factor: 2.537

Review 4.  Clinical and public health implications of emerging genetic technologies.

Authors:  Anne-Marie Laberge; Wylie Burke
Journal:  Semin Nephrol       Date:  2010-03       Impact factor: 5.299

5.  Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.

Authors:  Marian Reiff; Ellen Giarelli; Barbara A Bernhardt; Ebony Easley; Nancy B Spinner; Pamela L Sankar; Surabhi Mulchandani
Journal:  J Autism Dev Disord       Date:  2015-10

Review 6.  Clinical decision support for genetically guided personalized medicine: a systematic review.

Authors:  Brandon M Welch; Kensaku Kawamoto
Journal:  J Am Med Inform Assoc       Date:  2012-08-25       Impact factor: 4.497

Review 7.  Risk factors for autism: translating genomic discoveries into diagnostics.

Authors:  Stephen W Scherer; Geraldine Dawson
Journal:  Hum Genet       Date:  2011-06-24       Impact factor: 4.132

8.  The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Authors:  Miriam S Reuter; Susan Walker; Bhooma Thiruvahindrapuram; Joe Whitney; Iris Cohn; Neal Sondheimer; Ryan K C Yuen; Brett Trost; Tara A Paton; Sergio L Pereira; Jo-Anne Herbrick; Richard F Wintle; Daniele Merico; Jennifer Howe; Jeffrey R MacDonald; Chao Lu; Thomas Nalpathamkalam; Wilson W L Sung; Zhuozhi Wang; Rohan V Patel; Giovanna Pellecchia; John Wei; Lisa J Strug; Sherilyn Bell; Barbara Kellam; Melanie M Mahtani; Anne S Bassett; Yvonne Bombard; Rosanna Weksberg; Cheryl Shuman; Ronald D Cohn; Dimitri J Stavropoulos; Sarah Bowdin; Matthew R Hildebrandt; Wei Wei; Asli Romm; Peter Pasceri; James Ellis; Peter Ray; M Stephen Meyn; Nasim Monfared; S Mohsen Hosseini; Ann M Joseph-George; Fred W Keeley; Ryan A Cook; Marc Fiume; Hin C Lee; Christian R Marshall; Jill Davies; Allison Hazell; Janet A Buchanan; Michael J Szego; Stephen W Scherer
Journal:  CMAJ       Date:  2018-02-05       Impact factor: 8.262

9.  Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.

Authors:  Carmen Ayuso; José M Millán; Marta Mancheño; Rafael Dal-Ré
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

10.  'Information is information': a public perspective on incidental findings in clinical and research genome-based testing.

Authors:  S Daack-Hirsch; M Driessnack; A Hanish; V A Johnson; L L Shah; C M Simon; J K Williams
Journal:  Clin Genet       Date:  2013-05-03       Impact factor: 4.438

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