Published on 09/01/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
Medical disorders: Stop marginalizing rare syndromes.
Kolset Svein Olav, et al. Nature 2016 0 0. (7617) 396
Targeted leukodystrophy diagnosis based on charges and yields for testing.
Richards Jackson et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2541-3
Sickle cell disease in western Sudan: genetic epidemiology and predictors of knowledge attitude and practices.
Daak Ahmed A et al. Tropical medicine & international health : TM & IH 2016 May 21(5) 642-53
The Role of Genetic Testing in the Selection of Therapy for Breast Cancer: A Review.
Niravath Polly et al. JAMA oncology 2016 Aug
Study Of Breast Cancer Treatment Reveals Paradox Of Precision Medicine
R Harris, NPR, August 24, 2016
Supporting families with Cancer: A patient centred survivorship model of care.
Craft Emily Victoria et al. Familial cancer 2015 Dec 14(4) 637-40
Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines.
Marcus Rebecca K et al. Familial cancer 2015 Dec 14(4) 641-9
Do women change their breast cancer mammogram screening behaviour after BRCA1/2 testing?
Larouche Geneviève et al. Familial cancer 2016 Aug
Universal Screening for Mismatch-Repair Deficiency in Endometrial Cancers to Identify Patients With Lynch Syndrome and Lynch-like Syndrome.
Watkins Jaclyn C et al. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2016 Aug
Breast cancer risk prediction using a clinical risk model and polygenic risk score.
Shieh Yiwey et al. Breast cancer research and treatment 2016 Aug
Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.
Tanakaya Kohji et al. Anticancer research 2016 Apr 36(4) 1985-9
70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer.
Cardoso Fatima et al. The New England journal of medicine 2016 Aug 375(8) 717-29
My Cancer Genome: Evaluating an Educational Model to Introduce Patients and Caregivers to Precision Medicine Information.
Kusnoor Sheila V et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 2016112-21
Aging and the genetic road towards the positivity effect in memory.
Mammarella Nicola et al. Experimental gerontology 2016 Sep 82120-4
The utility of genetic testing in neuromuscular disease: A Consensus Statement From the AANEM on the Clinical Utility of Genetic Testing in Diagnosis of Neuromuscular Disease.
Aanem Aanem et al. Muscle & nerve 2016 Aug
The Aging Epigenome.
Booth Lauren N et al. Molecular cell 2016 Jun 62(5) 728-44
Past, Present, and Future of Informed Consent in Pain and Genomics Research: Challenges Facing Global Medical Community.
Compagnone Christian et al. Pain practice : the official journal of World Institute of Pain 2016 Aug
Ageing: Dietary protection for genes.
Oshima Junko, et al. Nature 2016 0 0. (7620) 316-317
US personalized-medicine industry takes hit from Supreme Court.
Ledford Heidi et al. Nature 2016 Aug 536(7617) 382
Addressing ethical challenges in the Genetics Substudy of the National Eye Survey of Trinidad and Tobago (GSNESTT).
Roach Allana N et al. Applied & translational genomics 2016 Jun 96-14
The Deceptive Appeal of Direct-to-Consumer Genetics.
Burke Wylie et al. Annals of internal medicine 2016 Apr 164(8) 564-5
Who should have access to genomic data and how should they be held accountable? Perspectives of Data Access Committee members and experts.
Shabani Mahsa et al. European journal of human genetics : EJHG 2016 Aug
Experiences with obtaining informed consent for genomic sequencing.
Bernhardt Barbara A et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2635-46
Frequency of the CCR5-delta32 allele in Brazilian populations: A systematic literature review and meta-analysis.
Silva-Carvalho Wlisses Henrique Veloso et al. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2016 Sep 43101-7
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Brothers Kyle B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
Modeling the costs of clinical decision support for genomic precision medicine.
Mathias Patrick C et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 201660-4
The intersection of precision medicine and implementation science
1-hour webinar and slides, NCI Precision Medicine and Population Health, August 2016
Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals.
Zierhut Heather et al. American journal of medical genetics. Part A 2015 Nov 167A(11) 2647-56
Uncertainty in the Era of Precision Medicine.
Hunter David J et al. The New England journal of medicine 2016 Aug 375(8) 711-3
Heart, Lung, Blood and Sleep Diseases
Exploring Gaps of Family History Documentation in EHR for Precision Medicine -A Case Study of Familial Hypercholesterolemia Ascertainment.
Mehrabi Saeed et al. AMIA Joint Summits on Translational Science proceedings. AMIA Summit on Translational Science 2016 2016160-6
Thousands of genes responsible for inherited risk for MI, stroke identified in specific tissues
Franzen O et al, Cardiology Today, August 2016
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.
Landis Benjamin J et al. Frontiers in cardiovascular medicine 2016 322
Individualized Angiotensin-Converting Enzyme (ACE)-Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model.
Oemrawsingh Rohit M et al. Journal of the American Heart Association 2016 Mar 5(3) e002688
Pharmacogenetic Risk Scores for Perindopril Clinical and Cost Effectiveness in Stable Coronary Artery Disease: When Are We Ready to Implement?
Luzum Jasmine A et al. Journal of the American Heart Association 2016 Mar 5(3) e003440
Long-term follow-up in newborn screening: the role of collaboration.
Wasserstein Melissa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
Role of pharmacogenetics in public health and clinical health care: a SWOT analysis.
Kapoor Ritika, et al. European journal of human genetics : EJHG 2016 0 0. (12) 1651-1657
A brighter future for the implementation of pharmacogenomic testing.
van der Wouden Cathelijne H, et al. European journal of human genetics : EJHG 2016 0 0. (12) 1658-1660
Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.
Lewis Celine et al. PloS one 2016 11(4) e0153147
Study may explain why people with type O blood more likely to die of cholera
Science, August 29, 2016