Published on 09/08/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Gene therapy for sickle cell moves closer as scientists clear unexpected obstacle
StatNews, September 7, 2016 -
Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications.
Youngblom Emily et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Sep 44(3) 514-9 -
Autism severity linked to genetics, ultrasound, data analysis finds
Science Daily, September 1, 2016
Cancer
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The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology.
Joseph Loren et al. The Journal of molecular diagnostics : JMD 2016 Sep 18(5) 605-19 -
Contribution of extended family history in assessment of risk for breast and colon cancer.
Solomon Benjamin L et al. BMC family practice 2016 17(1) 126 -
A collaborative approach to cancer risk assessment services using genetic counselor extenders in a multi-system community hospital.
Cohen Stephanie A et al. Breast cancer research and treatment 2016 Aug -
Risk of Advanced Neoplasia Using the National Cancer Institute's Colorectal Cancer Risk Assessment Tool.
Imperiale Thomas F et al. Journal of the National Cancer Institute 2017 Jan 109(1) -
Blue ribbon report urges U.S. cancer moonshot to invest in 10 promising areas
J Kaiser, Science, September 7, 2016 -
Cancer Moonshot Blue Ribbon Panel Recommendations
NCI, September 7, 2016 -
Effect of decision aid for breast cancer prevention on decisional conflict in women with a BRCA1 or BRCA2 mutation: a multisite, randomized, controlled trial.
Metcalfe Kelly A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep -
BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines.
Chun Danielle S et al. Familial cancer 2016 Sep -
Eye Melanoma, Media Hype, and Genomic Medicine
R Lewis, PLOS Blogs, September 1, 2016 -
Mutational Markers and Risk Stratification in Thyroid Cancer-The Art of War Refined.
Story E Shannon et al. JAMA oncology 2016 Sep -
NCI embraces scientific road map to achieve Cancer Moonshot goals
NCI, September 7, 2016 -
A U.S. "Cancer Moonshot" to accelerate cancer research.
Singer Dinah S, et al. Science (New York, N.Y.) 2016 9 0. (6304) 1105-6 -
Adverse Clinical Outcome Associated With Mutations That Typify African American Colorectal Cancers.
Wang Zhenghe et al. Journal of the National Cancer Institute 2016 Dec 108(12) -
Cancer experts unveil wishlist for US government ‘moonshot’
H Ledford, Nature News, September 7, 2016 -
Gene mutations that lead to more aggressive colorectal cancer in African American patients discovered
Science Daily, September 2, 2016 -
Advances in genetics: widening our understanding of prostate cancer.
Pine Angela C et al. F1000Research 2016 5 -
Waiting for Cancer,
by Patricia Fall, New York Times, September 1, 2016
Chronic Disease
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The Role of the Gut Microbiota in Childhood Obesity.
Pihl Andreas Friis et al. Childhood obesity (Print) 2016 Aug 12(4) 292-9 -
Early-Life Exposure to Antibiotics, Alterations in the Intestinal Microbiome, and Risk of Metabolic Disease in Children and Adults.
Yallapragada Sushmita G et al. Pediatric annals 2015 Nov 44(11) e265-9 -
The Impact of Familial Predisposition to Obesity and Cardiovascular Disease on Childhood Obesity.
Nielsen Louise Aas et al. Obesity facts 2015 8(5) 319-28 -
The Genetics of Pediatric Obesity.
Chesi Alessandra et al. Trends in endocrinology and metabolism: TEM 2015 Dec 26(12) 711-21
Ethics/Policy/Law
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Known unknowns: building an ethics of uncertainty into genomic medicine.
Newson Ainsley J et al. BMC medical genomics 2016 9(1) 57
Practice
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Walking in the shoes of patients, not just in their genes: a patient-centered approach to genomic medicine.
Arora Neeraj K et al. The patient 2015 Jun 8(3) 239-45 -
Genetic counselors' (GC) knowledge, awareness, understanding of clinical next-generation sequencing (NGS) genomic testing.
Boland P M et al. Clinical genetics 2015 Dec 88(6) 565-72 -
Views of Cohort Study Participants about Returning Research Results in the Context of Precision Medicine.
Hyams Travis et al. Public health genomics 2016 Aug -
Development and Characterization of Reference Materials for Genetic Testing: Focus on Public Partnerships.
Kalman Lisa V et al. Annals of laboratory medicine 2016 Nov 36(6) 513-20 -
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.
Heale Bret S E et al. Applied clinical informatics 2016 7(3) 817-31 -
Opportunities for community awareness platforms in personal genomics and bioinformatics education.
Bianchi Lucia et al. Briefings in bioinformatics 2016 Aug -
The Gene Messenger Impact Project: An Innovative Genetics Continuing Education Strategy for Primary Care Providers.
Carroll June C et al. The Journal of continuing education in the health professions 2016 36(3) 178-85 -
Role-playing is an effective instructional strategy for genetic counseling training: an investigation and comparative study.
Xu Xiao-Feng et al. BMC medical education 2016 16(1) 235 -
Precision Medicine and Population Health: Forging a Consensus
S Galea, Boston University, September 2016
Heart, Lung, Blood and Sleep Diseases
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Genetics and Genomics of Coronary Artery Disease.
Pjanic Milos et al. Current cardiology reports 2016 Oct 18(10) 102 -
Can the cardiovascular family history reported by our patients be trusted? The Norwegian Stroke in the Young Study.
Øygarden H et al. European journal of neurology 2016 Jan 23(1) 154-9 -
Does a medical history of hypertension influence disclosing genetic testing results of the risk for salt-sensitive hypertension, in primary care?
Okayama Masanobu et al. International journal of general medicine 2016 9257-66 -
Medication adherence, cascade screening, and lifestyle patterns among women with hypercholesterolemia: Results from the WomenHeart survey.
Benson Gretchen et al. Journal of clinical lipidology 10(4) 937-43 -
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
Alonso Rodrigo et al. Journal of clinical lipidology 10(4) 953-61 -
Management of homozygous familial hypercholesterolemia in real-world clinical practice: A report of 7 Italian patients treated in Rome with lomitapide and lipoprotein apheresis.
Stefanutti Claudia et al. Journal of clinical lipidology 10(4) 782-9
Newborn Screening
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Mothers' Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses.
van Teeffelen Sarah R et al. Public health genomics 2016 19(1) 25-33 -
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park Kyoung Jin et al. Annals of laboratory medicine 2016 Nov 36(6) 561-72 -
Biobank participant support of newborn screening for disorders with variable treatment and intervention options.
Bunnell Megan E et al. Journal of community genetics 2016 Sep
Pharmacogenomics
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Meta-analysis of genome-wide association studies of HDL cholesterol response to statins.
Postmus Iris et al. Journal of medical genetics 2016 Sep -
Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results.
Adelsperger Sarah et al. Health communication 2016 Aug 1-8 -
Pharmacogenetics Informs Clinical Practice
by DeeAnn Visk, Ph.D., GEN, September 1, 2016
Reproductive Health
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The measurement of patient attitudes regarding prenatal and preconception genetic carrier screening and translational behavioral medicine: an integrative review.
Shiroff Jennifer J et al. Translational behavioral medicine 2016 Aug -
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 -
Precision Medicine For Your Practice: Prenatal Cell-free DNA Screening
AMA, CME course, AUgust 2016
Tools/Databases
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The biorepository portal toolkit: an honest brokered, modular service oriented software tool set for biospecimen-driven translational research.
Felmeister Alex S et al. BMC genomics 2016 17 Suppl 4434 -
The Biorepository Portal Toolkit
Integrated Applications for Translational Research