Published on 10/07/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.
Shapiro Adam J et al. Pediatric pulmonology 2015 Sep -
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano Daniel et al. Molecular genetics & genomic medicine 2015 Sep 3(5) 396-403
Cancer
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Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery.
Karlitz Jordan J et al. The American journal of gastroenterology 2015 Jul 110(7) 948-55 -
Multigene panels in prostate cancer risk assessment: a systematic review.
Little Julian et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Oct -
Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The ABOUT Study.
Armstrong Joanne et al. JAMA oncology 2015 Oct 1-10 -
Opportunities, Risks, and Limitations of Genetic Testing: Looking to the Future From Patients' Point of View.
Bertolotti Mauro et al. Mayo Clinic proceedings 2015 Oct 90(10) 1311-3 -
Family History of Colorectal Cancer: It Is Time to Rethink Screening Recommendations.
Doubeni Chyke A et al. Gastroenterology 2015 Sep -
Impact of the 2013 ASCO/CAP HER2 Guideline Updates at an Academic Medical Center That Performs Primary HER2 FISH Testing: Increase in Equivocal Results and Utility of Reflex Immunohistochemistry.
Muller Kristen E et al. American journal of clinical pathology 2015 Aug 144(2) 247-52 -
A systematic review of the clinical validity of the Cologuard™ genetic test for screening colorectal cancer.
Onieva-García M Á et al. Revista clinica espanola 2015 Oct -
The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland.
Kajula Outi et al. Journal of genetic counseling 2015 Sep
Ethics/Policy/Law
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Report on Confirmatory Genetic Diagnostic Test Activity [PDF 607.85 KB]
Report to Congress, United States Patent and Trademark Office, September 2015
Practice
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ClinGen and Genetic Testing.
Easton Douglas F et al. The New England journal of medicine 2015 Oct 373(14) 1378 -
ClinGen and Genetic Testing.
Karam Rachid et al. The New England journal of medicine 2015 Oct 373(14) 1376-7 -
ClinGen and Genetic Testing.
Peshkin Beth N et al. The New England journal of medicine 2015 Oct 373(14) 1377 -
ClinGen and Genetic Testing.
Nielsen Maartje et al. The New England journal of medicine 2015 Oct 373(14) 1377 -
ClinGen and Genetic Testing.
Lennerz Jochen K et al. The New England journal of medicine 2015 Oct 373(14) 1377-8 -
ClinGen and Genetic Testing.
Nussbaum Robert L et al. The New England journal of medicine 2015 Oct 373(14) 1379 -
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Miller Neil A et al. Genome medicine 2015 7(1) 100 -
A global reference for human genetic variation.
et al. Nature 2015 Sep 526(7571) 68-74 -
Assessing value of innovative molecular diagnostic tests in the concept of predictive, preventive, and personalized medicine.
Akhmetov Ildar et al. The EPMA journal 2015 619 -
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor Noralane M et al. Mayo Clinic proceedings 2015 Oct 90(10) 1327-37 -
Medical genetics and genomic medicine in Greece: achievements and challenges.
Manoli Irini et al. Molecular genetics & genomic medicine 2015 Sep 3(5) 383-90 -
PharmGKB summary: very important pharmacogene information for CFTR.
McDonagh Ellen M et al. Pharmacogenetics and genomics 2015 Mar 25(3) 149-56 -
Living at Risk: Factors That Affect the Experience of Direct-to-Consumer Genetic Testing.
Oliveri Serena et al. Mayo Clinic proceedings 2015 Oct 90(10) 1323-6 -
Providing access to genomic variant knowledge in a healthcare setting: A vision for the ClinGen electronic health records workgroup.
Overby Casey et al. Clinical pharmacology and therapeutics 2015 Sep -
Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults.
Pillar Nir et al. Molecular genetics & genomic medicine 2015 Sep 3(5) 433-9 -
A conceptual model for translating omic data into clinical action.
Herr Timothy M et al. Journal of pathology informatics 2015 646
Pharmacogenomics
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When a Genetic ID Card is the Difference Between Life and Death,
By Ed Yong, the Atlantic, October 5, 2015 -
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing.
Gammal Roseann S et al. Clinical pharmacology and therapeutics 2015 Sep -
Evaluation of the use of clinical decision support and online resources for pharmacogenomics education.
Rohrer Vitek Carolyn R et al. Pharmacogenomics 2015 Sep -
Genetic risk for atrial fibrillation could motivate patient adherence to warfarin therapy: a cost effectiveness analysis.
Shiffman Dov et al. BMC cardiovascular disorders 2015 15(1) 104
News/ Reviews/Comments
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Scientists test new gene therapy for vision loss from a mitochondrial disease,
NIH News, October 5, 2015 -
Scientists Can Now Sequence a Human's Genome in 26 Hours,
by Danny Lewis, Smithsonian.com , October 5, 2015 -
Genetic tests for psychiatric drugs spur hope, doubts,
by Beth Daley, Boston Globe, October 3, 2015 -
Too Few Get Counseling Before BRCA Gene Test,
by Dennis Thompson, Web MD, October 2, 2015 -
Patient wins high court challenge against company's cancer gene patent,
the Guardian, October 6, 2015 -
Progress in mainstreaming genomics into clinical practice,
by Corinna Alberg, PHG Foundation, September 30, 2015 -
Genomic Testing Makes Consumers Less Confident in Understanding Genetics (And That's Probably Okay),
By Robert C. Green, Huffington Post Blog, October 2, 2015 -
A genetic test could predict future troubles for kidney donors - why not use it?
Medical Xpress, October 2, 2015
Funding
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NIH Common Fund launches four programs designed to take aim at gaps in biomedical research,
NIH News, October 5, 2015