Published on 03/17/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comparing the Use of Centers for Disease Control and Prevention and World Health Organization Growth Charts in Children with Cystic Fibrosis through 2 Years of Age.
Zhang Zhumin et al. The Journal of pediatrics 2015 Nov 167(5) 1089-95 -
Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.
Ciafaloni Emma et al. Journal of pediatric rehabilitation medicine 2016 Feb 9(1) 5-11 -
Toward understanding family-related characteristics of young adults with sickle-cell disease or sickle-cell trait in the USA.
Hershberger Patricia E et al. Journal of clinical nursing 2016 Mar -
Defining Sickle Cell Disease Mortality Using a Population-Based Surveillance System, 2004 through 2008.
Paulukonis Susan T et al. Public health reports (Washington, D.C. : 1974) 131(2) 367-75 -
Family Communication and Cascade Testing for Fragile X Syndrome.
Raspa Melissa et al. Journal of genetic counseling 2016 Mar -
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen Christina M et al. Human genetics 2016 Mar
Cancer
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Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol.
Taylor Natalie et al. BMC health services research 2016 16(1) 89 -
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry.
Vasen Hans F A et al. Familial cancer 2016 Mar -
Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening: a monocenter study in Germany.
Vetter Lisa et al. Breast cancer research and treatment 2016 Mar -
Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer.
Wang Sophie R et al. The Journal of molecular diagnostics : JMD 2016 Mar -
Risk of Colorectal Neoplasia in Individuals With Self-Reported Family History: A Prospective Colonoscopy Study from 16 Asia-Pacific Regions.
Wong Martin C S et al. The American journal of gastroenterology 2016 Mar -
Patient preferences regarding incidental genomic findings discovered during tumor profiling.
Yushak Melinda L et al. Cancer 2016 Mar -
The Self-Reported Use of Immunostains and Cytogenetic Testing in the Diagnosis of Melanoma by Practicing U.S. Pathologists of 10 Selected States.
Zhao Ge et al. Journal of cutaneous pathology 2016 Mar -
Prospective Validation of a 21-Gene Expression Assay in Breast Cancer.
Sparano Joseph A et al. The New England journal of medicine 2015 Nov 373(21) 2005-14 -
Genetic counseling and cascade genetic testing in Lynch syndrome.
Hampel Heather et al. Familial cancer 2016 Mar -
Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.
Jacobs Aryana S et al. Familial cancer 2016 Mar -
ReCAP: Oncologists' Selection of Genetic and Molecular Testing in the Evolving Landscape of Stage II Colorectal Cancer.
Parikh Aparna R et al. Journal of oncology practice / American Society of Clinical Oncology 2016 Mar 12(3) 259-60 -
Family history in breast cancer in São Luís, Maranhão, Brazil.
Ribeiro Maria Hilda Araújo et al. BMC research notes 2016 9(1) 155 -
Should I Perform Genetic Testing? A Qualitative Look into the Decision Making Considerations of Religious Israeli Undergraduate Students.
Siani Merav et al. Journal of genetic counseling 2016 Mar -
CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.
Ahadova Aysel et al. Familial cancer 2016 Mar
Chronic Disease
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The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.
Teixeira Emerência et al. Patient education and counseling 2014 Jul 96(1) 86-92 -
Clinical and genetic data of Huntington disease in Moroccan patients.
Bouhouche Ahmed et al. African health sciences 2015 Dec 15(4) 1232-8 -
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Koenig Mary Kay et al. JAMA neurology 2016 Mar
Ethics/Policy/Law
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FDA oversight of laboratory-developed tests will facilitate adoption of pharmacogenetic testing into routine clinical care.
Hillebrenner E et al. Journal of clinical pharmacology 2015 Jul 55(7) 728-30 -
Data security in genomics: A review of Australian privacy requirements and their relation to cryptography in data storage.
Schlosberg Arran et al. Journal of pathology informatics 2016 76
Practice
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The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis.
Hollands Gareth J et al. BMJ (Clinical research ed.) 2016 352i1102 -
Precision medicine: opportunities, possibilities, and challenges for patients and providers.
Adams Samantha A et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar -
Challenges and Opportunities for Genomics Education: Insights from an Institute of Medicine Roundtable Activity.
Dougherty Michael J et al. The Journal of continuing education in the health professions 2016 36(1) 82-5 -
Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.
Koretzky Maya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar -
Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).
Merino-Martinez Roxana et al. Biopreservation and biobanking 2016 Mar -
Limited resources of genome sequencing in developing countries: Challenges and solutions.
Helmy Mohamed, et al. Applied & translational genomics 2016 6 0. 15-9 -
Translating translational medicine into global health equity: What is needed?
Isaacson Barash Carol, et al. Applied & translational genomics 2016 6 0. 37-9 -
The Evolving Role of the Laboratory Professional in the Age of Genome Sequencing: A Vision of the Association for Molecular Pathology.
Schrijver Iris et al. The Journal of molecular diagnostics : JMD 2015 Jul 17(4) 335-8
Heart, Lung, Blood and Sleep Diseases
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Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES).
de Ferranti Sarah D et al. Circulation 2016 Mar 133(11) 1067-72 -
Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association.
Hall Jennifer L et al. Circulation. Cardiovascular genetics 2016 Mar
Newborn Screening
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Newborn screening for sickling and other haemoglobin disorders using tandem mass spectrometry: A pilot study of methodology in laboratories in England.
Daniel Yvonne A et al. Journal of medical screening 2016 Mar
News/ Reviews/Comments
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Cant figure out genetics? Heres a handy guide
by Robin McKie, the Guardian, March 12, 2016 -
Frequent Incidence of Familial Hypercholesterolemia Increases Heart Disease Risk,
Cardiology Advisor, March 16, 2016 -
Data integration and patient voice key to personalised medicine in the NHS,
PHG Foundation, March 17, 2016 -
The Limits of Personalized Medicine,
by Timothy Caulfield, the Atlantic, March 16, 2016 -
Family struggles with genetic testing for Alzheimer's,
by Whitney Wild, 9News, March 13, 2016 -
Human genetics: Loss-of-function variants--not always what they seem.
Burgess Darren J, et al. Nature reviews. Genetics 2016 5 0. (5) 251 -
News Feature: Genetic mutations you want.
Williams Sarah C P et al. Proceedings of the National Academy of Sciences of the United States of America 2016 Mar 113(10) 2554-7 -
When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance,
by Gina Kolata, New York Times, March 11, 2016 -
What You Need To Know About Your Family History,
by Michelle Money, Good4Utah, March 14, 2016 -
Confusion In The Age Of Genetic Information,
by Larry Husten, Cardio Brief, March 15, 2016 -
Need Help Interpreting Direct-To-Consumer DNA Test Results? Ask a Genetic Counselor,
by Ricki Lewis, DNA Science Blog, March 10, 2016 -
Daughter shares the same Huntingtons disease gene which killed her late father,
by Jane Hansen, the Daily Telegraph, March 12, 2016 -
Contextual Genomics, Personalized Medicine Initiative Begin Tumor Profiling Study,
Genome Web, March 14, 2016 [by free subscription only] -
Gene intelligence,
Nature News, March 9, 2016 -
After Angry Moms Fault Counseling, Genetics Society Cites Its Ethics,
by Beth Daley, WGBH, March 11, 2016 -
The Paradox of Precision Medicine,
by Jeneen Interlandi, Scientific American, April 1, 2016 -
The Government seem more interested in our genes than our voices,
Edward Hockings and Lewis Coyne, the Guardian, March 15, 2016 -
Bad Luck Or Bad Genes? Dealing With BRCA And 'A Cancer In The Family',
NPR, March 14, 2016 -
Getting Past the "Shotgun" Approach to Treating Mental Illness,
by Daniel Barron, Scientific American, March 10, 2016