Literature DB >> 23173007

Genomic medicine: evolving science, evolving ethics.

Sarah E Soden1, Emily G Farrow, Carol J Saunders, John D Lantos.   

Abstract

Genomic medicine is rapidly evolving. Next-generation sequencing is changing the diagnostic paradigm by allowing genetic testing to be carried out more quickly, less expensively and with much higher resolution; pushing the envelope on existing moral norms and legal regulations. Early experience with implementation of next-generation sequencing to diagnose rare genetic conditions in symptomatic children suggests ways that genomic medicine might come to be used and some of the ethical issues that arise, impacting test design, patient selection, consent, sequencing analysis and communication of results. The ethical issues that arise from use of new technologies cannot be satisfactorily analyzed until they are understood and they cannot be understood until the technologies are deployed in the real world.

Entities:  

Year:  2012        PMID: 23173007      PMCID: PMC3500993          DOI: 10.2217/pme.12.56

Source DB:  PubMed          Journal:  Per Med        ISSN: 1741-0541            Impact factor:   2.512


  11 in total

1.  Advances in whole-genome genetic testing: from chromosomes to microarrays; solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey. Foreword.

Authors:  Arthur H Fierman
Journal:  Curr Probl Pediatr Adolesc Health Care       Date:  2012-03

2.  The coming explosion in genetic testing--is there a duty to recontact?

Authors:  Reed E Pyeritz
Journal:  N Engl J Med       Date:  2011-10-13       Impact factor: 91.245

3.  Currents in contemporary ethics. GINA, the ADA, and genetic discrimination in employment.

Authors:  Mark A Rothstein
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

Review 4.  Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Authors:  Gregory M Cooper; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-08-18       Impact factor: 53.242

5.  Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

Authors:  Stephen F Kingsmore; Carol J Saunders
Journal:  Sci Transl Med       Date:  2011-06-15       Impact factor: 17.956

6.  Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors:  Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2011-01-12       Impact factor: 17.956

7.  Legal, ethical, and social issues in human genome research.

Authors:  H T Greely
Journal:  Annu Rev Anthropol       Date:  1998

Review 8.  Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Authors:  Stephen F Kingsmore; Darrell L Dinwiddie; Neil A Miller; Sarah E Soden; Carol J Saunders
Journal:  Expert Rev Mol Diagn       Date:  2011-11       Impact factor: 5.225

9.  An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons.

Authors:  Amy L McGuire; Wylie Burke
Journal:  JAMA       Date:  2008-12-10       Impact factor: 56.272

10.  Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors.

Authors: 
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

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  4 in total

Review 1.  Next-generation molecular diagnosis: single-cell sequencing from bench to bedside.

Authors:  Wanjun Zhu; Xiao-Yan Zhang; Sadie L Marjani; Jialing Zhang; Wengeng Zhang; Shixiu Wu; Xinghua Pan
Journal:  Cell Mol Life Sci       Date:  2016-10-13       Impact factor: 9.261

2.  Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Authors:  Jaya Punetha; Eric P Hoffman
Journal:  Circ Cardiovasc Genet       Date:  2013-07-14

Review 3.  Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.

Authors:  Judith Kruse; Regina Mueller; Ali A Aghdassi; Markus M Lerch; Sabine Salloch
Journal:  Front Genet       Date:  2022-01-26       Impact factor: 4.599

4.  Next-generation sequencing: from understanding biology to personalized medicine.

Authors:  Karen S Frese; Hugo A Katus; Benjamin Meder
Journal:  Biology (Basel)       Date:  2013-03-01
  4 in total

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