Literature DB >> 23076269

Next-generation sequencing in the clinic: are we ready?

Leslie G Biesecker1, Wylie Burke, Isaac Kohane, Sharon E Plon, Ron Zimmern.   

Abstract

We are entering an era in which the cost of clinical whole-genome and targeted sequencing tests is no longer prohibitive to their application. However, currently the infrastructure is not in place to support both the patient and the physicians that encounter the resultant data. Here, we ask five experts to give their opinions on whether clinical data should be treated differently from other medical data, given the potential use of these tests, and on the areas that must be developed to improve patient outcome.

Entities:  

Mesh:

Year:  2012        PMID: 23076269      PMCID: PMC3891793          DOI: 10.1038/nrg3357

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  34 in total

1.  Issues concerning the evaluation and regulation of predictive genetic testing.

Authors:  R L Zimmern
Journal:  J Community Genet       Date:  2012-07-08

Review 2.  The evaluation of genetic tests.

Authors:  Ron L Zimmern; Mark Kroese
Journal:  J Public Health (Oxf)       Date:  2007-05-24       Impact factor: 2.341

3.  Reforming health care or reforming health?

Authors:  Thomas A Farley
Journal:  Am J Public Health       Date:  2009-02-05       Impact factor: 9.308

4.  Exome sequencing deciphers rare diseases.

Authors:  Amy Maxmen
Journal:  Cell       Date:  2011-03-04       Impact factor: 41.582

5.  Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.

Authors:  Bronson D Riley; Julie O Culver; Cécile Skrzynia; Leigha A Senter; June A Peters; Josephine W Costalas; Faith Callif-Daley; Sherry C Grumet; Katherine S Hunt; Rebecca S Nagy; Wendy C McKinnon; Nancie M Petrucelli; Robin L Bennett; Angela M Trepanier
Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

Review 6.  A guide for functional analysis of BRCA1 variants of uncertain significance.

Authors:  Gaël A Millot; Marcelo A Carvalho; Sandrine M Caputo; Maaike P G Vreeswijk; Melissa A Brown; Michelle Webb; Etienne Rouleau; Susan L Neuhausen; Thomas v O Hansen; Alvaro Galli; Rita D Brandão; Marinus J Blok; Aneliya Velkova; Fergus J Couch; Alvaro N A Monteiro
Journal:  Hum Mutat       Date:  2012-07-16       Impact factor: 4.878

7.  The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Authors:  Leslie G Biesecker; James C Mullikin; Flavia M Facio; Clesson Turner; Praveen F Cherukuri; Robert W Blakesley; Gerard G Bouffard; Peter S Chines; Pedro Cruz; Nancy F Hansen; Jamie K Teer; Baishali Maskeri; Alice C Young; Teri A Manolio; Alexander F Wilson; Toren Finkel; Paul Hwang; Andrew Arai; Alan T Remaley; Vandana Sachdev; Robert Shamburek; Richard O Cannon; Eric D Green
Journal:  Genome Res       Date:  2009-07-14       Impact factor: 9.043

8.  Technical standards and guidelines for Huntington disease testing.

Authors:  Nicholas T Potter; Elaine B Spector; Thomas W Prior
Journal:  Genet Med       Date:  2004 Jan-Feb       Impact factor: 8.822

9.  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

10.  A timely arrival for genomic medicine.

Authors:  Alan N Mayer; David P Dimmock; Marjorie J Arca; David P Bick; James W Verbsky; Elizabeth A Worthey; Howard J Jacob; David A Margolis
Journal:  Genet Med       Date:  2011-03       Impact factor: 8.822

View more
  56 in total

Review 1.  Applications of high-throughput DNA sequencing to benign hematology.

Authors:  Vijay G Sankaran; Patrick G Gallagher
Journal:  Blood       Date:  2013-09-10       Impact factor: 22.113

2.  Is the ``$1000 Genome'' really $1000? Understanding the full benefits and costs of genomic sequencing.

Authors:  Kathryn A Phillips; Mark J Pletcher; Uri Ladabaum
Journal:  Technol Health Care       Date:  2015       Impact factor: 1.285

Review 3.  Translating next generation sequencing to practice: opportunities and necessary steps.

Authors:  Sitharthan Kamalakaran; Vinay Varadan; Angel Janevski; Nilanjana Banerjee; David Tuck; W Richard McCombie; Nevenka Dimitrova; Lyndsay N Harris
Journal:  Mol Oncol       Date:  2013-05-15       Impact factor: 6.603

4.  Simultaneous digital quantification and fluorescence-based size characterization of massively parallel sequencing libraries.

Authors:  Matthew T Laurie; Jessica A Bertout; Sean D Taylor; Joshua N Burton; Jay A Shendure; Jason H Bielas
Journal:  Biotechniques       Date:  2013-08       Impact factor: 1.993

Review 5.  Better tests, better care: improved diagnostics for infectious diseases.

Authors:  Angela M Caliendo; David N Gilbert; Christine C Ginocchio; Kimberly E Hanson; Larissa May; Thomas C Quinn; Fred C Tenover; David Alland; Anne J Blaschke; Robert A Bonomo; Karen C Carroll; Mary Jane Ferraro; Lisa R Hirschhorn; W Patrick Joseph; Tobi Karchmer; Ann T MacIntyre; L Barth Reller; Audrey F Jackson
Journal:  Clin Infect Dis       Date:  2013-12       Impact factor: 9.079

6.  Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

Authors:  Mark Harrison; Stephen Birch; Martin Eden; Simon Ramsden; Tracey Farragher; Katherine Payne; Georgina Hall; Graeme Cm Black
Journal:  J Community Genet       Date:  2015-01-09

7.  How can psychological science inform research about genetic counseling for clinical genomic sequencing?

Authors:  Cynthia M Khan; Christine Rini; Barbara A Bernhardt; J Scott Roberts; Kurt D Christensen; James P Evans; Kyle B Brothers; Myra I Roche; Jonathan S Berg; Gail E Henderson
Journal:  J Genet Couns       Date:  2014-12-09       Impact factor: 2.537

Review 8.  Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.

Authors:  Jia Nee Foo; Jianjun Liu; Eng-King Tan
Journal:  Hum Genet       Date:  2013-03-23       Impact factor: 4.132

9.  Practices and policies of clinical exome sequencing providers: analysis and implications.

Authors:  Seema M Jamal; Joon-Ho Yu; Jessica X Chong; Karin M Dent; Jessie H Conta; Holly K Tabor; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2013-05       Impact factor: 2.802

10.  Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling.

Authors:  R Z Hayeems; R Babul-Hirji; N Hoang; R Weksberg; C Shuman
Journal:  J Genet Couns       Date:  2015-08-12       Impact factor: 2.537

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.