Last Posted: Jan-06-2017 0PM
Incidental findings expanded expanded
Last Posted: Jan 05, 2017
- Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar Saumya Shekhar et al. EBioMedicine 2016 Mar 5211-6 - Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
ACMG, Genetics in Medicine, November 17, 2016 - The fiduciary relationship model for managing clinical genomic "incidental" findings.
Lázaro-Muñoz Gabriel et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(4) 576-89 - Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
P Natarajan et al, Science Translational Medicine, November 10, 2016 - Will Unanticipated Genetic Mutations Lead to Subsequent Disease?
Brigham and Women's Hospital press release, November 9, 2016 - Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers.
Lavie Ofer et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2016 Feb 26(2) 233-9 - Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.
Smith Lacey A et al. Journal of genetic counseling 2015 Aug 24(4) 654-62 - Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.
Grandval P et al. Clinical genetics 2016 Feb 89(2) 267-8 - Ethical, Legal, and Social Implications of Personalized Genomic Medicine Research: Current Literature and Suggestions for the Future.
Callier Shawneequa L et al. Bioethics 2016 Nov 30(9) 698-705 - PIGSR: A Preference Instrument for Genomics Secondary Results
CSER Consortium Online Tool - Issues Arising in Psychological Consultations to Help Parents Talk to Minor and Young Adult Children about their Cancer Genetic Test Result: a Guide to Providers.
Patenaude Andrea Farkas et al. Journal of genetic counseling 2016 Oct - Content Analysis of Informed Consent for whole Genome Sequencing Offered by Direct-to-Consumer Genetic testing Companies.
Niemiec Emilia et al. Human mutation 2016 Sep - Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
Brison Nathalie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep - Opportunities for community awareness platforms in personal genomics and bioinformatics education.
Bianchi Lucia et al. Briefings in bioinformatics 2016 Aug - Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
A Brison et al, Genetics in Medicine, September 1, 2016 - Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives.
Quinlan-Jones Elizabeth et al. Prenatal diagnosis 2016 Aug
From CDC Information Database
This database includes general CDC public health information on specific diseases and health related topics. When available, the database displays genomic information from various CDC web pages. Users are also encouraged to conduct searches of CDC website for additional information.
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
- 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 17(2) 107-17 - Recommendations for returning genomic incidental findings? We need to talk!
Burke Wylie et al. Genet. Med. 2013 Nov 15(11) 854-9
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process.
Published 2015 (The Network of Applied Genetic Medicine) - Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations.
Published 2015 (Expert panel) - College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests.
Published 2015 (College of American Pathologists) - ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Published 2013 (American College of Medical Genetics and Genomics) - Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.
Published 2013 (Expert panel)
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun .
Lee Elizabeth M J, Xu Karen, Mosbrook Emma, Links Amanda, Guzman Jessica, Adams David R, Flynn Elise, Valkanas Elise, Toro Camillo, Tifft Cynthia J, Boerkoel Cornelius F, Gahl William A, Sincan Mur - Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
European journal of human genetics : EJHG 2015 Sep .
Srebniak Malgorzata I, Diderich Karin Em, Joosten Marieke, Govaerts Lutgarde Cp, Knijnenburg Jeroen, de Vries Femke At, Boter Marjan, Lont Debora, Knapen Maarten Fcm, de Wit Merel C, Go Attie Tji, Galjaard Robert-Jan H, Van Opstal Dia - Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.
Investigative ophthalmology & visual science 2015 Aug 56 (9): 5087-93.
Gharahkhani Puya, Burdon Kathryn P, Hewitt Alex W, Law Matthew H, Souzeau Emmanuelle, Montgomery Grant W, Radford-Smith Graham, Mackey David A, Craig Jamie E, MacGregor Stua - Array CGH as a first-tier test for neonates with congenital heart disease.
Cardiology in the young 2015 Jan 25 (1): 115-22.
Bachman Kristine K, DeWard Stephanie J, Chrysostomou Constantinos, Munoz Ricardo, Madan-Khetarpal Sunee - A protocol for the identification and validation of novel genetic causes of kidney disease.
BMC nephrology 2015 16 (1): 152.
Mallett Andrew, Patel Chirag, Maier Barbara, McGaughran Julie, Gabbett Michael, Takasato Minoru, Cameron Anne, Trnka Peter, I Alexander Stephen, Rangan Gopala, Tchan Michel C, Caruana Georgina, John George, Quinlan Cathy, McCarthy Hugh J, Hyland Valentine, E Hoy Wendy, Wolvetang Ernst, Taft Ryan, Simons Cas, Healy Helen, Little Melis
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