ACTUALIZACIÓN MÉDICO-CONTINUADA EN HALLAZGOS GENÓMICOS INCIDENTALES ► Genomics|Features|Incidental Findings [idioma inglés únicamente]

Genomics|Features|Incidental Findings

Incidental Findings

Return of Incidental Findings from Clinical Genome Sequencing - August 18, 2015

CDC Info

• Good laboratory practice for clinical next-generation sequencing informatics pipelines.Gargis AS, et al. 
  Nat Biotechnol. 2015 Jul 8;33(7):689-93
• On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy(2013)
• Recommendations for returning genomic incidental findings? We need to talk!Wylie Burke et al.Genetics in Medicine(2013)

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
Berg JS et al, Genetics in Medicine, August 13, 2015

So rare we need to hunt for them: reframing the ethical debate on incidental findings.
Schuol S et al. Genome Med 2015 7(1) 83

Return of genetic testing results in the era of whole-genome sequencing
Knoppers BM et al. Nature Reviews Genetics, August 2015

Towards a European consensus for reporting incidental findings during clinical NGS testing
Hehir-Kwa JY et al. Eur J Hum Genetics, June 3, 2015

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K et al. J. Med. Genet. 2015 May 7.

Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review.
Douglas MP et al. Genet. Med. 2015 May 21.

Public want to know medical findings from genomic research, P Brice, PHG Foundation, Apr 30

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
Middelton A et al. Eur J Human Genetics, April 29, 2015

Reporting incidental findings in genomic scale clinical sequencing-a clinical laboratory perspective: a report of the Association for Molecular Pathology.
Hegde Madhuri et al. J Mol Diagn 2015 Mar (2) 107-17

Return of anticipated and incidental results from next-generation sequencing: Implications for providers and patients
Janet K. Williams, et al. Discussion Paper, IOM Roundtable Genomics Translation, February 19, 2015

Reporting genomic secondary findings: ACMG members weigh in
Maren T. Scheuner et al. Genet Med, November 13, 2014

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing 
ACMG Board of Directors Genet Med, November 13, 2014

Return of Incidental Findings in Medical Sequencing: Opt-out Update - April 10, 2014

ACMG updates recommendation on "opt out" for genome sequencing return of results,  [PDF 779.53 KB] April 1, 2014

ACMG changes recommendations on incidental findings and opting out,  by Allison Proffitt,  April 1, 2014  BIOIT World

CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine (2013)

Finding common ground
James P. Evans. Genet Med 2013; 15: 852-853

CDC blog post: On spinning wheels and genomes revealed: Sequencing is no longer a sleeping controversy (2013)