Genomics & Health Impact Weekly Scan features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
Birth Defects and Child Health
- Knowledge and Health Beliefs Regarding Sickle Cell Disease Among Omanis in a Primary Healthcare Setting: Cross-sectional study.
Al-Azri Mohammed H et al. Sultan Qaboos University medical journal 2016 Nov 16(4) e437-e444 - Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices.
Peabody John et al. PloS one 2016 11(12) e0169064
Cancer
- You may have more control over aging than you think, say ‘The Telomere Effect’ authors
K Weintraub, StatNews, January 3, 2017 - Blood-Based Analysis of Circulating Cell-Free DNA and Tumor Cells for Early Cancer Detection.
Pantel Klaus et al. PLoS medicine 2016 Dec 13(12) e1002205 - All men with metastatic prostate cancer should have genetic testing
KnowRidge, December 29, 2016 - Telomeres and telomerase in the clinical management of colorectal cancer.
Piñol-Felis C et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2016 Oct - Clinical Trial Accrual Targeting Genomic Alterations After Next-Generation Sequencing at a Non-National Cancer Institute-Designated Cancer Program.
Mantripragada Kalyan C et al. Journal of oncology practice 2016 Apr 12(4) e396-404 - Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
Li Marilyn M et al. The Journal of molecular diagnostics : JMD 2017 Jan 19(1) 4-23 - Reflex test reminders in required cancer synoptic templates decrease order entry error: An analysis of mismatch repair immunohistochemical orders to screen for Lynch syndrome.
Kilgore Mark R et al. Journal of pathology informatics 2016 748 - Primary care providers' cancer genetic testing-related knowledge, attitudes, and communication behaviors: A systematic review and research agenda.
Hamilton Jada G et al. Journal of general internal medicine 2016 Dec - Clinical Application of Targeted Next Generation Sequencing for Colorectal Cancers.
Fontanges Quitterie et al. International journal of molecular sciences 2016 Dec 17(12) - Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers.
Borad Mitesh J et al. Scientific reports 2016 Dec 6(1) 25 - Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Oberg Jennifer A et al. Genome medicine 2016 Dec 8(1) 133 - Understanding Genetic Breast Cancer Risk: Processing Loci of the BRCA Gist Intelligent Tutoring System.
Wolfe Christopher R et al. Learning and individual differences 2016 Jul 49178-189 - Translating genetics beyond bench and bedside: A comparative perspective on health care infrastructures for 'familial' breast cancer.
Aarden Erik et al. Applied & translational genomics 2016 Dec 1148-54 - In Cancer Trials, Minorities Face Extra Hurdles
D Grady, New York Times, December 23, 2016 - Breast and ovarian cancer referrals to the ACT genetic service: are we meeting guidelines?
Aitken Lucy et al. Internal medicine journal 2016 Dec - ALK-Testing in non-small cell lung cancer (NSCLC): Immunohistochemistry (IHC) and/or fluorescence in-situ Hybridisation (FISH)?: Statement of the Germany Society for Pathology (DGP) and the Working Group Thoracic Oncology (AIO) of the German Cancer Society e.V. (Stellungnahme der Deutschen Gesellschaft für Pathologie und der AG Thorakale Onkologie der Arbeitsgemeinschaft Onkologie/Deutsche Krebsgesellschaft e.V.).
von Laffert M et al. Lung cancer (Amsterdam, Netherlands) 2017 Jan 1031-5 - Clinical Genomic Profiling of a Diverse Array of Oncology Specimens at a Large Academic Cancer Center: Identification of Targetable Variants and Experience with Reimbursement.
Sireci Anthony N et al. The Journal of molecular diagnostics : JMD 2016 Dec - Next-Generation Assessment of ERBB2 (Human Epidermal Growth Factor Receptor 2) Amplification Status: Clinical Validation in the Context of a Hybrid Capture-Based, Comprehensive Solid Tumor Genomic Profiling Assay.
Ross Dara S et al. The Journal of molecular diagnostics : JMD 2016 Dec - Impact of genomic profiling on the treatment and outcomes of patients with advanced gastrointestinal malignancies.
Dhir Mashaal et al. Cancer medicine 2016 Dec - Precision medicine: When to order somatic cancer panel testing
KB O'Reilly, AMA Newswire, December 2016
Chronic Diseases
- From Common to Rare Variants: The Genetic Component of Alzheimer Disease.
Nicolas Gaël et al. Human heredity 2016 Dec 81(3) 129-141 - Early Alzheimer's Gene Is A Curse For Families, A Gift For Science
A Gorman, NPR News, December 27, 2016 - Association between family history of diabetes and cardiovascular disease and lifestyle risk factors in the United States population: The 2009-2012 National Health and Nutrition Examination Survey.
Akhuemonkhan Eboselume et al. Preventive medicine 2016 Dec - Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study.
Guan Yue et al. Patient education and counseling 2016 Dec - USING IRON STUDIES TO PREDICT HFE MUTATIONS IN NEW ZEALAND: IMPLICATIONS FOR LABORATORY TESTING.
O'Toole Rebecca et al. Internal medicine journal 2016 Dec - Clinical utility gene card for: Sitosterolaemia.
Hooper Amanda J et al. European journal of human genetics : EJHG 2016 Dec - Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia.
de Graaff Barbara et al. Applied health economics and health policy 2016 Dec - Molecular Diagnostics of Ageing and Tackling Age-related Disease.
Timmons James A et al. Trends in pharmacological sciences 2017 Jan 38(1) 67-80 - Genetics: Clues in the code.
DeWeerdt Sarah et al. Nature 2016 Dec 540(7634) S104-S105
Ethics, Policy and Law
- The human genome as public: Justifications and implications.
Bayefsky Michelle J et al. Bioethics 2016 Dec - Access policies in biobank research: what criteria do they include and how publicly available are they? A cross-sectional study.
Langhof Holger et al. European journal of human genetics : EJHG 2016 Dec - Informed choice and decision making in women offered cell-free DNA prenatal genetic screening.
Lo Tsz-Kin et al. Prenatal diagnosis 2016 Dec
Genomics in Practice
- What Might Genetic Sequencing Mean For Your Future?
G Friar, NovaNext, PBS, January 3, 2017 - To Adopt Precision Medicine, Redesign Clinical Care
NEJM Catalyst, December 28, 2016 - A simple guide to CRISPR, one of the biggest science stories of 2016
B Plumer et al, Vox Magazine, December 27, 2016 - Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey Frederick E et al. Science (New York, N.Y.) 2016 Dec 354(6319) - Why do we pay for information that we won't use? A cognitive-based explanation for genetic information seeking.
Gorini Alessandra et al. European journal of human genetics : EJHG 2016 May 24(5) 625 - Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Jamuar Saumya Shekhar et al. EBioMedicine 2016 Mar 5211-6 - Clinical Genomics - Molecular Pathogenesis Revealed.
Lenardo Michael J et al. The New England journal of medicine 2016 Dec 375(22) 2117-2119 - "Pheno"menal value for human health.
Rader Daniel J et al. Science (New York, N.Y.) 2016 Dec 354(6319) 1534-1536 - Health economics, genomics and the value of knowing
J Buchanan, January 5, 2016 - 23andMe, Big Data, and the Genetics of Depression.
Abbasi Jennifer et al. JAMA 2017 Jan 317(1) 14-16 - A Look Ahead: Seven Trends Shaping Genomics in 2017 and Beyond
by Enakshi Singh, GEN, December 29, 2016 - Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research.
Wynn Julia et al. Journal of genetic counseling 2016 Dec - Unexpected Risks Found In Editing Genes To Prevent Inherited Disorders
J Neimark, NPR News, January 1, 2016 - Analysis of more than 50,000 genomes hints at new disease-causing genes
J Kaiser, Science, December 23, 2016 - Everything You Need to Know About Gene Therapy’s Most Promising Year
A Regalado, MIT Technology Review, December 30, 2016 - Psychological and behavioral impact of returning personal results from whole-genome sequencing: the HealthSeq project
SC Sanderson et al, Eur J Hun Genetics, January 4, 2017
Newborn Screening
- Costs associated with treatment of severe combined immunodeficiency (SCID) - rationale for newborn screening in Sweden.
Gardulf Ann et al. The Journal of allergy and clinical immunology 2016 Dec
Reproductive Health
- Patient preferences for prenatal testing of microdeletion and microduplication syndromes.
Calonico Elise et al. Prenatal diagnosis 2016 Mar 36(3) 244-51 - Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases.
Taneja Patricia A et al. Prenatal diagnosis 2016 Mar 36(3) 237-43 - Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.
Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31 - Public Perceptions of Ethical, Legal and Social Implications of Pre-implantation Genetic Diagnosis (PGD) in Malaysia.
Olesen Angelina P et al. Science and engineering ethics 2016 Dec - A Framework for Unrestricted Prenatal Whole-Genome Sequencing: Respecting and Enhancing the Autonomy of Prospective Parents.
Chen Stephanie C et al. The American journal of bioethics : AJOB 2017 Jan 17(1) 3-18
Pharmacogenomics
- Genomics of Adverse Drug Reactions.
Alfirevic Ana et al. Trends in pharmacological sciences 2017 Jan 38(1) 100-109 - Special Issue on Precision Medicine
Trends in Pharmacological Sciences, January 2017 - Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC®) for CYP2D6 and CYP2C19 Genotypes and Dosing of Tricyclic Antidepressants: 2016 Update.
Kevin Hicks J et al. Clinical pharmacology and therapeutics 2016 Dec - Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium.
van der Wouden Cathelijne H et al. Clinical pharmacology and therapeutics 2016 Dec - Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines.
Kim Sollip et al. Annals of laboratory medicine 2017 Mar 37(2) 180-193 - Pharmacogenetic Optimization of Smoking Cessation Treatment.
Chenoweth Meghan J et al. Trends in pharmacological sciences 2017 Jan 38(1) 55-66
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