Published on 12/22/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Current strategies for the long-term assessment, monitoring, and management of cystic fibrosis patients treated with CFTR modulator therapy.
Elborn J Stuart et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Dec
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco Celia et al. European journal of human genetics : EJHG 2016 Dec
From a single genetic mutation, secrets of boy in the bubble disease revealed
B Israel, Berkeley News, December 2016
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon See-Tarn et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2016 1265
Exploratory Analysis of TP53 Mutations in Circulating Tumour DNA as Biomarkers of Treatment Response for Patients with Relapsed High-Grade Serous Ovarian Carcinoma: A Retrospective Study.
Parkinson Christine A, et al. PLoS medicine 2016 12 0. (12) e1002198
Association of DNA Mismatch Repair and Mutations in BRAF and KRAS With Survival After Recurrence in Stage III Colon Cancers : A Secondary Analysis of 2 Randomized Clinical Trials.
Sinicrope Frank A, et al. JAMA oncology 2017 4 0. (4) 472-480
Study Finds No Safe Level of Smoking
NIH Director Blog, December 13, 2016
The Angelina Effect: The Power And Perils Of Celebrity Cancer Stories
C Goldberg, WBUR, December 16, 2016
Circulating Tumor DNA May Serve as a Prognostic Marker in Pancreatic Cancer
J Cavallo, ASCO Post, December 20, 2016
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
Pearlman Rachel et al. JAMA oncology 2016 Dec
Universal Genetic Testing for Younger Patients With Colorectal Cancer.
Vilar Eduardo et al. JAMA oncology 2016 Dec
When Genetic Tests Disagree About Best Option For Cancer Treatment
NPR, December 16, 2016
Circulating tumor DNA technology: the future of cancer management?
L Blackburn, PHG Foundation, February 16, 2017
Molecular Markers Beyond Microsatellite Instability for Assessing Prognosis in Early-Stage Colorectal Cancer: What Happens at Relapse?
Sartore-Bianchi Andrea, et al. JAMA oncology 2017 0 0. (4) 481-482
A new type of molecular medicine may be needed to halt cancers
The Economist, December 17, 2016
Genetic testing in a gynaecological oncology care in developing countries-knowledge, attitudes and perception of Nepalese clinicians.
Pokharel Hanoon P et al. Gynecologic oncology research and practice 2016 312
Cost-Effectiveness of an Individualized First-Line Treatment Strategy Offering Erlotinib Based on EGFR Mutation Testing in Advanced Lung Adenocarcinoma Patients in Germany.
Schremser Katharina et al. PharmacoEconomics 2015 Nov 33(11) 1215-28
Toward a Shared Vision for Cancer Genomic Data.
Grossman Robert L et al. The New England journal of medicine 2016 Sep 375(12) 1109-12
A Precision Medicine Approach to Clinical Trials.
Rubin Rita et al. JAMA 2016 Nov 316(19) 1953-1955
Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.
Antonucci Ivana et al. Journal of human genetics 2016 Dec
Clinical challenges associated with universal screening for Lynch Syndrome associated endometrial cancer.
Bruegl Amanda et al. Cancer prevention research (Philadelphia, Pa.) 2016 Dec
Previvors' Uncertainty Management Strategies for Hereditary Breast and Ovarian Cancer.
Dean Marleah et al. Health communication 2016 Dec 1-9
The Microbiome and Risk for Obesity and Diabetes.
Komaroff Anthony L, et al. JAMA 2017 1 0. (4) 355-356
The Appropriateness and Cost of Thrombophilia Panel Testing: Its Complicated
S Bowen et al, CDC Blog Post, December 15, 2016
The Application of Genomics in Diabetes: Barriers to Discovery and Implementation.
Floyd James S et al. Diabetes care 2016 Nov 39(11) 1858-1869
Geneticists, health professionals suggest recasting requests to test children for adult-onset diseases: New study explores parents' reasons for seeking predictive genetic testing.
et al. American journal of medical genetics. Part A 2017 Jan 173(1) 8-9
Genotypic carriers of the obesity-associated FTO polymorphism exhibit different cardiometabolic profiles after an intervention.
Moraes Greice G et al. Anais da Academia Brasileira de Ciencias 88(4) 2331-2339
Individual DNA samples and health information sold by 23andMe.
Adam Shelin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr 18(4) 305-6
Colon cancer runs in my family: Should I get a genetic test? I worry that'll affect my insurance.
et al. Consumer reports 2017 82(1) 21
Precision Medicine: What Does it Mean for Your Health?
Learning Health Systems as Facilitators of Precision Medicine.
Ramsey Laura B et al. Clinical pharmacology and therapeutics 2016 Dec
Bridging the Gap from Bench to Bedside--An Informatics Infrastructure for Integrating Clinical, Genomics and Environmental Data (ICGED).
et al. Studies in health technology and informatics 2015 2161054
The value of genetic testing: beyond clinical utility.
Lerner Barbara et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec
A systematic review and checklist presenting the main challenges for health economic modeling in personalized medicine: towards implementing patient-level models.
Degeling K et al. Expert review of pharmacoeconomics & outcomes research 2016 Dec
Heart, Lung, Blood and Sleep Diseases
Knowing the Prevalence of Familial Hypercholesterolemia Matters.
Goldberg Anne C et al. Circulation 2016 Mar 133(11) 1054-7
Letter by Paton Regarding Article, "Knowing the Prevalence of Familial Hypercholesterolemia Matters".
Paton David M et al. Circulation 2016 Jul 134(3) e17-8
Screen and you shall find.
Hulbert Monica L, et al. Science translational medicine 2016 0 0. (369) 369ec199
An evaluation of pregnant women's knowledge and attitudes about newborn bloodspot screening.
Fitzgerald Catherine et al. Midwifery 2016 Nov 4521-27
Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guideline for CYP2C19 and Voriconazole Therapy.
Moriyama Brad et al. Clinical pharmacology and therapeutics 2016 Dec
The Impact of Genetic and Non-Genetic Factors on Warfarin Dose Prediction in MENA Region: A Systematic Review.
Bader Loulia Akram et al. PloS one 2016 11(12) e0168732
Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications.
Guo K M et al. Genetics and molecular research : GMR 2016 Dec 15(4)
MR-Base: a platform for systematic causal inference across the phenome using billions of genetic associations
G Hemani et al, BioXIRV preprints, December 2016