Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

[1]  Tina Hambuch,et al.  Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. , 2012, The Journal of molecular diagnostics : JMD.

[2]  I. Kohane,et al.  Next-generation sequencing in the clinic: are we ready? , 2012, Nature Reviews Genetics.

[3]  James P Evans,et al.  An informatics approach to analyzing the incidentalome , 2012, Genetics in Medicine.

[4]  Jennifer S. Lin,et al.  Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update , 2012, Genetics in Medicine.

[5]  Robert C. Green,et al.  Exploring concordance and discordance for return of incidental findings from clinical sequencing , 2012, Genetics in Medicine.

[6]  Marylyn D. Ritchie,et al.  Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network , 2012, Genetics in Medicine.

[7]  David Moher,et al.  Evidence summaries: the evolution of a rapid review approach , 2012, Systematic Reviews.

[8]  V. Moyer,et al.  Reconsidering the criteria for evaluating proposed screening programs: reflections from 4 current and former members of the U.S. Preventive services task force. , 2011, Epidemiologic reviews.

[9]  Muin J Khoury,et al.  Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time , 2011, Genetics in Medicine.

[10]  Michelle E. Kho,et al.  AGREE II: advancing guideline development, reporting and evaluation in health care , 2010, Canadian Medical Association Journal.

[11]  A. Katsnelson.  Epigenome effort makes its mark , 2010, Nature.

[12]  J. Higgins,et al.  Cochrane Handbook for Systematic Reviews of Interventions , 2010, International Coaching Psychology Review.

[13]  Alexander A. Morgan,et al.  Clinical assessment incorporating a personal genome , 2010, The Lancet.

[14]  S. Teutsch,et al.  Outcomes of interest in evidence-based evaluations of genetic tests , 2010, Genetics in Medicine.

[15]  Sharon F Terry,et al.  Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children , 2010, Genetics in Medicine.

[16]  Christopher Gignoux,et al.  The 1000 Genomes Project: new opportunities for research and social challenges , 2010, Genome Medicine.

[17]  J. Grimshaw,et al.  AMSTAR is a reliable and valid measurement tool to assess the methodological quality of systematic reviews. , 2009, Journal of clinical epidemiology.

[18]  Francisco M. De La Vega,et al.  Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. , 2009, Genome research.

[19]  C. Padilla.  Towards universal newborn screening in developing countries: obstacles and the way forward. , 2008, Annals of the Academy of Medicine, Singapore.

[20]  B. Therrell.  Considerations in choosing screening conditions: one (US) approach. , 2008, Annals of the Academy of Medicine, Singapore.

[21]  Dawei Li,et al.  The diploid genome sequence of an Asian individual , 2008, Nature.

[22]  Nancy F. Hansen,et al.  Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.

[23]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[24]  A. Andermann,et al.  Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. , 2008, Bulletin of the World Health Organization.

[25]  Diana Petitti,et al.  Update on the Methods of the U.S. Preventive Services Task Force: Estimating Certainty and Magnitude of Net Benefit , 2007, Annals of Internal Medicine.

[26]  B. Nordestgaard,et al.  Hemochromatosis genotypes and risk of 31 disease endpoints: Meta‐analyses including 66,000 cases and 226,000 controls , 2007, Hepatology.

[27]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[28]  R. Altman,et al.  The incidentalome: a threat to genomic medicine. , 2006, JAMA.

[29]  M. Khoury,et al.  Population screening in the age of genomic medicine. , 2003, The New England journal of medicine.

[30]  M. Khoury,et al.  Iron Overload, Public Health, and Genetics: Evaluating the Evidence for Hemochromatosis Screening , 1998, Annals of Internal Medicine.

[31]  M. Zavon.  Principles and Practice of Screening for Disease. , 1969 .

[32]  W. Alexander,et al.  European Association for the Study of the Liver , 1968 .

[33]  Jacob Cohen.  A Coefficient of Agreement for Nominal Scales , 1960 .

[34]  J. Higgins.  Cochrane handbook for systematic reviews of interventions. Version 5.1.0 [updated March 2011]. The Cochrane Collaboration , 2011 .

[35]  S. Greenfield,et al.  Clinical practice guidelines we can trust , 2011 .

[36]  Jia Ji-don.  EASL clinical practice guidelines for HFE hemochromatosis. , 2010, Journal of hepatology.

[37]  S. Teutsch,et al.  The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group , 2009, Genetics in Medicine.

[38]  M. Watson,et al.  Current status of newborn screening: decision-making about the conditions to include in screening programs. , 2006, Mental retardation and developmental disabilities research reviews.

[39]  R. Chadwick.  Genetic screening. , 1998, Medicine, health care, and philosophy.

[40]  F. Troman.  Task force. , 1974, Nursing mirror and midwives journal.

[41]  Ja Wilson,et al.  Principles and practice of screening for disease , 1968 .