Literature DB >> 24688162

Seeking Genomic Knowledge: The Case for Clinical Restraint.

Wylie Burke1, Susan Brown Trinidad2, Ellen Wright Clayton3.   

Abstract

Genome sequencing technology provides new and promising tests for clinical practice, including whole genome sequencing, which measures an individual's complete DNA sequence, and whole exome sequencing, which measures the DNA for all genes coding for proteins. These technologies make it possible to test for multiple genes in a single test, which increases the efficiency of genetic testing. However, they can also produce large amounts of information that cannot be interpreted or is of limited clinical utility. This additional information could be distracting for patients and clinicians, and contribute to unnecessary healthcare costs. The potential for genomic sequencing to improve care will be context-dependent, varying for different patients and clinical settings. This Article argues that a disciplined approach is needed, incorporating research to assess when and how genomic information can improve clinical outcomes, practice guidelines that direct optimal uses of genomic sequencing, and efforts to limit the production of genomic information unrelated to the clinical needs of the patient. Without this approach, genomic testing could add to current unsustainable healthcare costs and prove unaffordable in the long run.

Entities:  

Year:  2013        PMID: 24688162      PMCID: PMC3969739     

Source DB:  PubMed          Journal:  Hastings Law J        ISSN: 0017-8322


  42 in total

1.  Case records of the Massachusetts General Hospital. Case 7-2012. A 79-year-old man with pain and weakness in the legs.

Authors:  William S David; David A Chad; Avinash Kambadakone; E Tessa Hedley-Whyte
Journal:  N Engl J Med       Date:  2012-03-08       Impact factor: 91.245

2.  The mammography controversy: when should you screen?

Authors:  Summer Sawyer Allen; Sandhya Pruthi
Journal:  J Fam Pract       Date:  2011-09       Impact factor: 0.493

3.  The predictive capacity of personal genome sequencing.

Authors:  Nicholas J Roberts; Joshua T Vogelstein; Giovanni Parmigiani; Kenneth W Kinzler; Bert Vogelstein; Victor E Velculescu
Journal:  Sci Transl Med       Date:  2012-04-02       Impact factor: 17.956

Review 4.  Reviewing the somatic genetics of melanoma: from current to future analytical approaches.

Authors:  Ken Dutton-Regester; Nicholas K Hayward
Journal:  Pigment Cell Melanoma Res       Date:  2012-02-13       Impact factor: 4.693

5.  Treatment complications in children diagnosed with neuroblastoma during a screening program.

Authors:  Stéphane Barrette; Mark L Bernstein; Jean-Marie Leclerc; Martin A Champagne; Yvan Samson; Josée Brossard; William G Woods
Journal:  J Clin Oncol       Date:  2006-04-01       Impact factor: 44.544

6.  A population-based study of the usefulness of screening for neuroblastoma.

Authors:  W G Woods; M Tuchman; L L Robison; M Bernstein; J M Leclerc; L C Brisson; J Brossard; G Hill; J Shuster; R Luepker; T Byrne; S Weitzman; G Bunin; B Lemieux
Journal:  Lancet       Date:  1996 Dec 21-28       Impact factor: 79.321

7.  Ten strategies to lower costs, improve quality, and engage patients: the view from leading health system CEOs.

Authors:  Delos M Cosgrove; Michael Fisher; Patricia Gabow; Gary Gottlieb; George C Halvorson; Brent C James; Gary S Kaplan; Jonathan B Perlin; Robert Petzel; Glenn D Steele; John S Toussaint
Journal:  Health Aff (Millwood)       Date:  2013-02       Impact factor: 6.301

8.  Enhanced support for shared decision making reduced costs of care for patients with preference-sensitive conditions.

Authors:  David Veroff; Amy Marr; David E Wennberg
Journal:  Health Aff (Millwood)       Date:  2013-02       Impact factor: 6.301

Review 9.  Genomic and personalized medicine: foundations and applications.

Authors:  Geoffrey S Ginsburg; Huntington F Willard
Journal:  Transl Res       Date:  2009-10-01       Impact factor: 7.012

10.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

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  8 in total

1.  Ethical, Legal, and Social Issues (ELSI) in Clinical Genetics Research.

Authors:  Daryl Pullman; Holly Etchegary
Journal:  Methods Mol Biol       Date:  2021

2.  Experiences with obtaining informed consent for genomic sequencing.

Authors:  Barbara A Bernhardt; Myra I Roche; Denise L Perry; Sarah R Scollon; Ashley N Tomlinson; Debra Skinner
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

3.  Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.

Authors:  Joon-Ho Yu; Tanya M Harrell; Seema M Jamal; Holly K Tabor; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2014-06-26       Impact factor: 11.025

4.  Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.

Authors:  Laurence B McCullough; Melody J Slashinski; Amy L McGuire; Richard L Street; Christine M Eng; Richard A Gibbs; D William Parsons; Sharon E Plon
Journal:  Pediatr Blood Cancer       Date:  2015-10-27       Impact factor: 3.167

5.  "Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

Authors:  Elizabeth Ormondroyd; Michael P Mackley; Edward Blair; Judith Craft; Julian C Knight; Jenny C Taylor; John Taylor; Hugh Watkins
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

6.  Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Authors:  Kathryn M Porter; Tia L Kauffman; Barbara A Koenig; Katie L Lewis; Heidi L Rehm; Carolyn Sue Richards; Natasha T Strande; Holly K Tabor; Susan M Wolf; Yaping Yang; Laura M Amendola; Danielle R Azzariti; Jonathan S Berg; Katie Bergstrom; Leslie G Biesecker; Sawona Biswas; Kevin M Bowling; Wendy K Chung; Ellen W Clayton; Laura K Conlin; Gregory M Cooper; Matthew C Dulik; Levi A Garraway; Arezou A Ghazani; Robert C Green; Susan M Hiatt; Seema M Jamal; Gail P Jarvik; Katrina A B Goddard; Benjamin S Wilfond
Journal:  Mol Genet Genomic Med       Date:  2018-08-21       Impact factor: 2.183

7.  Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands.

Authors:  Wendy Bos; Eline M Bunnik
Journal:  Mol Genet Genomic Med       Date:  2022-02-11       Impact factor: 2.183

Review 8.  Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.

Authors:  Myra I Roche; Jonathan S Berg
Journal:  Curr Genet Med Rep       Date:  2015-08-25
  8 in total

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