Health Impact Weekly Scan
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About the Genomics & Health Impact Weekly Scan
This weekly update 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Atlas of Human Malformation Syndromes in Diverse Populations,
NHGRI - A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany.
Pickardt Thomas et al. Genomics, proteomics & bioinformatics 2016 Apr - Validation of a Nutrition Screening Tool for Pediatric Patients with Cystic Fibrosis.
Souza Dos Santos Simon Miriam Isabel et al. Journal of the Academy of Nutrition and Dietetics 2016 May 116(5) 813-8
Cancer
- The topography of mutational processes in breast cancer genomes
S Morganellla et al, Nature Communications, May 2, 2016 - Review of the Gene-Environment Interaction Literature in Cancer: What Do We Know?
Simonds Naoko I et al. Genetic epidemiology 2016 Apr - Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.
Cooley Linda D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - Aiming High ? Changing the Trajectory for Cancer
D Lowy et al, NEJM, April 2016 - Clinical Utility of PCA3 and TMPRSS2:ERG Urinary Biomarkers in African American Men Undergoing Prostate Biopsy.
Feibus Allison H et al. The Journal of urology 2016 Apr - Use of Cancer Genetics Services in African-American Young Breast Cancer Survivors.
Jones Tarsha et al. American journal of preventive medicine 2016 Apr - Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
KN Maxwell et al, AM J Human Genet, May 5, 2016 - Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group.
Kerkhofs C H H et al. Hereditary cancer in clinical practice 2016 1410 - Survival in familial and non-familial breast cancer by age and stage at diagnosis.
Kharazmi Elham et al. European journal of cancer (Oxford, England : 1990) 2016 Jan 5210-8 - Prognostic significance of cancer family history for patients with gastric cancer: a single center experience from China.
Liu Xiaowen et al. Oncotarget 2016 Apr - Genetics Toolkit
American Society of Clinical Oncology - Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.
Mikhail Fady M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - Race-specific genetic risk score is more accurate than nonrace-specific genetic risk score for predicting prostate cancer and high-grade diseases.
Na Rong et al. Asian journal of andrology 2016 May - Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
Park Kyung Sun et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - Risk of Advanced Neoplasia in First-Degree Relatives with Colorectal Cancer: A Large Multicenter Cross-Sectional Study.
Quintero Enrique et al. PLoS medicine 2016 May 13(5) e1002008 - Efficacy of post-operative radiation in a prostatectomy cohort adjusted for clinical and genomic risk.
Ross A E et al. Prostate cancer and prostatic diseases 2016 May - Barriers and Facilitators to Adoption of Genomic Services for Colorectal Care within the Veterans Health Administration.
Sperber Nina R et al. Journal of personalized medicine 6(2) - Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
Nik-Zainal Serena et al. Nature 2016 May
Chronic Diseases
- Rare disease gene has a key role in chronic hepatitis C infection
Science Magazine, April 30, 2016 - ALS: Recent Developments from Genetics Studies.
Therrien Martine et al. Current neurology and neuroscience reports 2016 Jun 16(6) 59 - Narrative review of genes, environment, and cigarettes.
Do Elizabeth et al. Annals of medicine 2016 Apr 1-15 - What You Need To Know About The Genetics of Mental Disorders,
by Allen Frances, Huffington Post Blog, April 30, 2016 - Asthma Genetics in the Post-GWAS Era.
Ober Carole et al. Annals of the American Thoracic Society 2016 Mar 13 Suppl 1S85-90 - Genetics as a molecular window into recovery, its treatment, and stress responses after stroke.
Juth Vanessa et al. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2016 Apr - Review of Select Practice Parameters, Evidence-Based Treatment Algorithms, and International Guidelines for Hereditary Angioedema.
Jose Jaison et al. Clinical reviews in allergy & immunology 2016 Apr - A national population-based e-cohort of people with psychosis (PsyCymru) linking prospectively ascertained phenotypically rich and genetic data to routinely collected records: overview, recruitment and linkage.
Lloyd Keith et al. Schizophrenia research 2015 Aug 166(1-3) 131-6 - Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.
Press Richard D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - Genetic susceptibility to cerebrovascular disease.
Della-Morte David et al. Current opinion in lipidology 2016 Apr 27(2) 187-95
Ethics, Policy and Law
- The challenge of consent in clinical genome-wide testing.
Burke Katherine et al. Archives of disease in childhood 2016 Apr
Genomics in Practice
- The over-hyping of precision medicine,
by Tan Shiow Chin, Star 2, May 1, 2016 - Making precision medicine a reality: Genomics researchers unveil road map to disease origin,
EurekAlert, April 28, 2016 - Applying an Implementation Science Approach to Genomic Medicine: Workshop Summary
National Academy of Medicine, Workshop Report, April 28, 2016 - Developing and evaluating polygenic risk prediction models for stratified disease prevention.
Chatterjee Nilanjan et al. Nature reviews. Genetics 2016 May - Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help.
Collins Heather et al. Interactive journal of medical research 2016 5(2) e13 - Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Abouelhoda Mohamed et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - Participatory Genomic Testing as an Educational Experience.
Garber Kathryn B et al. Trends in genetics : TIG 2016 Apr - A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Hunter Jessica Ezzell et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.
Levin Brooke Levenseller et al. Journal of genetic counseling 2016 Apr - A template for broad consent in biobank research. Results and explanation of an evidence and consensus-based development process.
Strech D et al. European journal of medical genetics 2016 Apr 59(6-7) 295-309
Cardiovascular Diseases
- Genetic Testing in Thoracic Aortic Disease--When, Why, and How?
Bowdin Sarah C et al. The Canadian journal of cardiology 2016 Jan 32(1) 131-4 - Familial hypercholesterolaemia reduces the quality of life of patients not reaching treatment targets.
Mortensen Gitte Lee et al. Danish medical journal 2016 May 63(5) - Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease
Anna Helgadottir, et al, Nature Genetics, May 2, 2016 - Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis.
Saghafi Hoorieh et al. Iranian journal of public health 2016 Mar 45(3) 329-339
Newborn Screening
- Newborn Screening for SCID: Lessons Learned.
Buelow Becky J et al. Expert review of hematology 2016 May - The benefits of newborn screening for cystic fibrosis: The Canadian experience.
Mak D Y F et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Apr - Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.
Sontag Marci K et al. The Journal of pediatrics 2016 Apr
Reproductive Health
- Non Invasive Prenatal Screening or Advanced Diagnostic Testing: Caveat Emptor.
Evans Mark I et al. American journal of obstetrics and gynecology 2016 Apr
Pharmacogenomics
- Extracting Electronic Health Record Data in a Practice-Based Research Network: Processes to Support Translational Research across Diverse Practice Organizations.
Cole Allison M et al. EGEMS (Washington, DC) 4(2) 1206 - How Many Patients Could Benefit From Pre-emptive Pharmacogenomic Testing and Decision Support? A Retrospective Study Based on Nationwide Austrian Claims Data.
Kuch Wolfgang et al. Studies in health technology and informatics 223253-258 - An expanded pharmacogenomics warfarin dosing table with utility in generalised dosing guidance.
Shahabi Payman et al. Thrombosis and haemostasis 2016 Apr 116(2)
News/Reviews/Commentaries
- The gene editor CRISPR won't fully fix sick people anytime soon. Here's why
J Kaiser, Science Magazine, May 3, 2016 - Validation of Rapid Plasma Genotyping for Detecting EGFR and KRAS Mutations in Advanced Lung Cancer,
by Matthew Stenger, ASCO Post, April 29, 2016 - Personalized Breast Cancer Treatment Gets Closer to Reality,
by Alexandra Sifferlin, Time, May 2, 2016 - Breast cancer: Scientists hail 'milestone' genetic find
J Gallagher, BBC News, May 2, 2016 - Did your aunt have cancer? Knowing could save your life.
By Theodora Ross, Washington Post, April 29, 2016 - ASCO Opposes Expanded Cigna Policy on Cancer Genetic Testing,
ASCO in Action, May 1, 2016 - Editorial: Editing human genes the CRISPR way,
Chicago Tribune, April 27, 2016 - Breast cancer study: towards personalised treatment
EMBL-EBI, May 2, 2016 - NCI's New Genomic Platform Seeks to Enable Data Sharing for Biden's Moonshot,
by Matthew Bin Han Ong, the Cancer Letter, April 29, 2016
CDC-Authored Genomics Publications
- Reversion to wildtype of a mutated and nonfunctional coxsackievirus B3CRE(2C).
Smithee Shane, Tracy Steven, Chapman Nora M Virus research 2016 4 0. . - In vivo efficacy of artemether-lumefantrine and artesunate-amodiaquine for uncomplicated Plasmodium falciparum malaria in Malawi, 2014.
Paczkowski Magdalena, Mwandama Dyson, Marthey Daniel, Luka Madalitso, Makuta Georgina, Sande John, Ali Doreen, Troell Peter, Mathanga Don P, Gutman Julie Malaria journal 2016 0 0. (1) 236. - Innate Resistance and Susceptibility to Norovirus Infection.
Nordgren Johan, Sharma Sumit, Kambhampati Anita, Lopman Ben, Svensson Lennart PLoS pathogens 2016 4 0. (4) e1005385. - What Predicts an Advanced-Stage Diagnosis of Breast Cancer? Sorting Out the Influence of Method of Detection, Access to Care, and Biologic Factors.
Lipscomb Joseph, Fleming Steven T, Trentham-Dietz Amy, Kimmick Gretchen, Wu Xiao-Cheng, Morris Cyllene R, Zhang Kun, Smith Robert A, Anderson Roger T, Sabatino Susan A, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 1 0. . - Evolving epidemiology of reported cryptosporidiosis cases in the United States, 1995-2012.
Painter J E, Gargano J W, Yoder J S, Collier S A, Hlavsa M C Epidemiology and infection 2016 6 0. (8) 1792-802. - Comparative genomics reveals Cyclospora cayetanensis possesses coccidia-like metabolism and invasion components but unique surface antigens.
Liu Shiyou, Wang Lin, Zheng Huajun, Xu Zhixiao, Roellig Dawn M, Li Na, Frace Michael A, Tang Kevin, Arrowood Michael J, Moss Delynn M, Zhang Longxian, Feng Yaoyu, Xiao Lihua BMC genomics 2016 0 0. (1) 316. - Borrelia bissettiae sp. nov. and Borrelia californiensis sp. nov. Prevail in Diverse Enzootic Transmission Cycles.
Margos Gabriele, Lane Robert S, Fedorova Natalia, Koloczek Johannes, Piesman Joseph, Hojgaard Andrias, Sing Andreas, Fingerle Volker International journal of systematic and evolutionary microbiology 2016 1 0. . - Local Population Structure and Patterns of Western Hemisphere Dispersal for Coccidioides spp., the Fungal Cause of Valley Fever.
Engelthaler David M, Roe Chandler C, Hepp Crystal M, Teixeira Marcus, Driebe Elizabeth M, Schupp James M, Gade Lalitha, Waddell Victor, Komatsu Kenneth, Arathoon Eduardo, Logemann Heidi, Thompson George R, Chiller Tom, Barker Bridget, Keim Paul, Litvintseva Anastasia P mBio 2016 0 0. (2)
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