June 9-16, 2016
Health Impact Weekly Scan
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
- Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?
Esterhuizen A I et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(6) 10999 - Characteristics of a rapid, point-of-care lateral flow immunoassay for the diagnosis of sickle cell disease.
McGann Patrick T et al. American journal of hematology 2016 Feb 91(2) 205-10 - Hereditary Hemorrhagic Telangiectasia: A Primer for Critical Care Nurses.
Sacco Kathleen M et al. Critical care nurse 2016 Jun 36(3) 36-48 - Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.
Richards C Sue et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - Cystic fibrosis in Latin America-Improving the awareness.
Silva Filho Luiz Vicente Ribeiro F et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Jun
Cancer
- Comprehensive Genomic Profiling Identifies a Subset of Crizotinib-Responsive ALK-Rearranged Non-Small Cell Lung Cancer Not Detected by Fluorescence In Situ Hybridization.
Ali Siraj M et al. The oncologist 2016 May - Roads Diverge — A Robert Frost View of Leukemia Development
AD Vinny. NEJM, June 8, 2016 - Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers.
D'Haene Nicky et al. PloS one 2015 10(9) e0138245 - U.S. project launched to promote data sharing by cancer researchers
Reuters, June 6, 2016 - New Genetic Markers for Prostate Cancer.
Leapman Michael S et al. The Urologic clinics of North America 2016 Feb 43(1) 7-15 - Cytogenetics and Molecular Genetics of Prostate Cancer: A Comprehensive Update.
Fonseka Laksha N et al. Journal of the Association of Genetic Technologists 2015 41(3) 100-11 - AR-V7 Protein in Circulating Tumor Cells—The Decider for Therapy
RB Montgomery et al, JAMA Oncology, June 4, 2016 - Prospective Lynch Syndrome Database
- Why an integrated network of genomic and clinical information on cancer is essential
Dog Lowy, NCI director, The Medium, June, 2016 - Newly launched Genomic Data Commons to facilitate data and clinical information sharing,
NIH News, June 6, 2016 - Precision medicine the theme at world's biggest cancer conference
The Guardian, June 3, 2016 - Why implement precision genomics?
- ASCO 2016: Liquid Biopsy May Help Guide Treatment Decisions for Patients With Advanced Solid Tumors
ASCO Post, June 4, 2016 - Genomic Data Commons Data Portal
- Considerations for Implementation of Cancer Molecular Diagnostics Into Clinical Care.
Hayes Daniel F et al. American Society of Clinical Oncology educational book / ASCO. American Society of Clinical Oncology. Meeting 2016 35292-6 - How Far Do We Go With Genetic Evaluation? Gene, Panel, and Tumor Testing.
Lynce Filipa et al. American Society of Clinical Oncology educational book / ASCO. American Society of Clinical Oncology. Meeting 2016 35e72-8 - The Advantages and Challenges of Testing Children for Heritable Predisposition to Cancer.
Kesserwan Chimene et al. American Society of Clinical Oncology educational book / ASCO. American Society of Clinical Oncology. Meeting 2016 35251-69 - How do women trade-off benefits and risks in chemotherapy treatment decisions based on gene expression profiling for early-stage breast cancer? A discrete choice experiment.
Marshall Deborah A et al. BMJ open 2016 6(6) e010981 - Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
Ellingson Marissa S et al. Breast cancer research and treatment 2015 Sep 153(2) 435-43 - Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review.
Lowery Jan T et al. Cancer 2016 Jun - Genetic testing for the risk of developing late effects among survivors of childhood cancer: Consumer understanding, acceptance, and willingness to pay.
Georgiou Gabrielle et al. Cancer 2016 Jun - Frequently Asked Questions About Genetic Testing and Cancer,
by Joy Larsen Haidle, National Society of Genetic Counselors, June 3, 2016 - Precision Medicine Approach May Expand Therapeutic Options for Patients
ASCO Post, June 4, 2016 - Personalized medicine leads to better outcomes for patients with cancer,
EurekAlert, June 6, 2016 - Association of Biomarker-Based Treatment Strategies With Response Rates and Progression-Free Survival in Refractory Malignant Neoplasms - A Meta-analysis
Schwaederlé M, et al. JAMA Oncology 2016 June 6 - FDA approves first blood test to detect gene mutation associated with non-small cell lung cancer,
FDA, June 1, 2016 - Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.
Warren-Gash Charlotte et al. Hereditary cancer in clinical practice 2016 1412 - Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Møller Pål et al. Gut 2016 Jun - ‘Liquid biopsy’ study offers hope for a blood test to find cancer
L McGinley, Washington Post, June 4, 2016 - The personalisation of cancer treatments is leading to better outcomes for patients
The Economist, June 4, 2016
Chronic Diseases
- Linking Genotype to Clinical Phenotype in Multiple Sclerosis- In Search of the Holy Grail
EE Longbrake et al, JAMA Neurology, May 31, 2016 - Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.
Hernandez Dena G et al. Journal of neurochemistry 2016 Apr - Getting a genetic handle on multiple sclerosis
Genomics Education UK, June 6, 2016 - Genetics of movement disorders in the next-generation sequencing era.
Olgiati Simone et al. Movement disorders : official journal of the Movement Disorder Society 2016 Apr 31(4) 458-70 - Lifestyle and Metformin Ameliorate Insulin Sensitivity Independently of the Genetic Burden of Established Insulin Resistance Variants in Diabetes Prevention Program Participants.
Hivert Marie-France et al. Diabetes 2016 Feb 65(2) 520-6 - My Approach to the Patient With Familial Hypercholesterolemia.
Safarova Maya S et al. Mayo Clinic proceedings 2016 Jun 91(6) 770-86
Ethics, Policy and Law
- Myriad Genetics Embroiled in Breast-Cancer Data Fight—Again,
by Erika Check Hayden, Scientific American, May 24, 2016 - Genomic Test Results and the Courtroom: The Roles of Experts and Expert Testimony.
Ramos Edward et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Mar 44(1) 205-15 - Biobank Report: United Kingdom.
Kaye Jane et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Mar 44(1) 96-105 - Contrasting Medical and Legal Standards of Evidence: A Precision Medicine Case Study.
Marchant Gary E et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Mar 44(1) 194-204 - Genomic Testing in The Paediatric Population: Ethical Considerations in Light of Recent Policy Statements.
Newson Ainsley J et al. Molecular diagnosis & therapy 2016 Jun - Plan to synthesize human genome triggers mixed response,
by Ewen Callaway, Nature News, June 2, 2016
Genomics in Practice
- Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities.
Estrada-Veras Juvianee I et al. Molecular genetics & genomic medicine 2016 May 4(3) 243-56 - Carrier screening by next-generation sequencing: health benefits and cost effectiveness.
Azimi Mohammad et al. Molecular genetics & genomic medicine 2016 May 4(3) 292-302 - Survey on the Awareness of Genetic Testing in Japanese Workers: The Effect of Participant Characteristics on Awareness.
Nakashita Chihiro et al. Nihon eiseigaku zasshi. Japanese journal of hygiene 2016 71(2) 133-7 - PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility.
Barsh Gregory S et al. PLoS genetics 2015 Dec 11(12) e1005716 - 'All Lives Have Equal Value': Reducing Inequality with Precision Public Health
Medscape video interview wih Dr Sue Desmond-Hellman, June 6, 2016 - Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out,
by Kat Snow, NPR, June 4, 2016 - Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa.
Kotze M et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2016 106(6) 11012 - Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green Robert C et al. American journal of human genetics 2016 Jun 98(6) 1051-66 - Serving families with science and empathy
E Pain, science, June 2, 2016 - What are people willing to pay for whole-genome sequencing information, and who decides what they receive?
Marshall Deborah A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.
Otten Ellen et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Aug 17(8) 668-78 - Personal utility is inherent to direct-to-consumer genomic testing.
Chung Matthew Wai Heng et al. Journal of medical ethics 2016 Jun
Cardiovascular Diseases
- Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
Burgos Mariana et al. Molecular diagnosis & therapy 2016 Jun - Familial Hypercholesterolemia: Now Part of Cardiovascular Disease Genetic Epidemiology Research.
Gidding Samuel S et al. Journal of the American College of Cardiology 2016 Jun 67(22) 2590-2 - Consensus statement and guidelines: Interassociation consensus statement on cardiovascular care of college student-athletes.
Hainline Brian et al. British journal of sports medicine 2016 May - Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
Khera Amit V et al. Journal of the American College of Cardiology 2016 Jun 67(22) 2578-89 - Interassociation Task Force Punts Decision on Universal ECG Screenings for Athletes
JA Jacob, JAMA, June 8, 2016 - Cardiovascular Disease Risk Associated With Familial Hypercholesterolemia: A Systematic Review of the Literature.
Wong Bruce et al. Clinical therapeutics 2016 May - Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
Santos Raul D et al. The lancet. Diabetes & endocrinology 2016 May
Newborn Screening
- VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans Maureen et al. Molecular genetics and metabolism 2016 May - Evaluation of a New Newborn Screening Model for Cystic Fibrosis.
Kharrazi Martin et al. The Journal of pediatrics 2016 May
Reproductive Health
- Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal Moran et al. BMC medical genomics 2016 9(1) 24
Pharmacogenomics
- Requirements for comprehensive pharmacogenetic genotyping platforms.
Lauschke Volker M et al. Pharmacogenomics 2016 Jun 0 - Warfarin Pharmacogenetics Reevaluated: Subgroup Analysis Reveals a Likely Underestimation of the Maximum Pharmacogenetic Benefit by Clinical Trials.
Stack Gary et al. American journal of clinical pathology 2016 May 145(5) 671-86 - Anticoagulants: What Is New and What is the Standard?
Lesko Lawrence et al. Clinical pharmacology and therapeutics 2016 May - Cost-effectiveness of pharmacogenetic-guided dosing of warfarin in the United Kingdom and Sweden
T I Verhoef et al, Pharmacogenomics journal, June 7, 2016 - Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
Lee Elizabeth M J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
News/Reviews/Commentaries
- DNA REPAIR. Drugging DNA repair.
Jackson Stephen P, Helleday Thomas Science (New York, N.Y.) 2016 6 0. (6290) 1178-9. - Human genetic support for GLP1R agonism in diabetes…and heart disease?
By Robert Plenge, Plenge Gen Blog, June 3, 2016 - The Genome Project-Write.
Boeke Jef D, Church George, Hessel Andrew, Kelley Nancy J, Arkin Adam, Cai Yizhi, Carlson Rob, Chakravarti Aravinda, Cornish Virginia W, Holt Liam, Isaacs Farren J, Kuiken Todd, Lajoie Marc, Lessor Tracy, Lunshof Jeantine, Maurano Matthew T, Mitchell Leslie A, Rine Jasper, Rosser Susan, Sanjana Neville E, Silver Pamela A, Valle David, Wang Harris, Way Jeffrey C, Yang Luhan Science (New York, N.Y.) 2016 6 0. . - Scientists Find Form of Crispr Gene Editing With New Capabilities,
by Carl Zimmer, the New York Times, June 3, 2016 - precisionFDA Announces Winners of Consistency Challenge,
by Jacque-Remy Orvis, Bio IT World, June 3, 2016 - Educate Your Immune System - Our bodies are confused by this 21st-century world.
by Moises Velasquez-Manoff, the New York Times, June 3, 2016 - Exclusive: Breast cancer gene database gives clearer picture of risk,
by Susan Miller, USA Today, June 1, 2016 - Taking Gene-Editing to the Next Level,
by Karen Weintraub, Scientific American, June 2, 2016
CDC-Authored Genomics Publications
- Anthrax Toxin-Expressing Bacillus cereus Isolated from an Anthrax-Like Eschar.
Marston Chung K, Ibrahim Hisham, Lee Philip, Churchwell George, Gumke Megan, Stanek Danielle, Gee Jay E, Boyer Anne E, Gallegos-Candela Maribel, Barr John R, Li Han, Boulay Darbi, Cronin Li, Quinn Conrad P, Hoffmaster Alex R PloS one 0 0 0. (6) e0156987. - Implementation of Whole Genome Sequencing (WGS) for Identification and Characterization of Shiga Toxin-Producing Escherichia coli (STEC) in the United States.
Lindsey Rebecca L, Pouseele Hannes, Chen Jessica C, Strockbine Nancy A, Carleton Heather A Frontiers in microbiology 2016 0 0. 766. - Whole-Genome Analysis of Cryptococcus gattii, Southeastern United States.
Lockhart Shawn R, Roe Chandler C, Engelthaler David M Emerging infectious diseases 2016 6 0. (6) 1098-101. - PCR serotyping of Streptococcus pneumoniae from culture-negative specimens: Novel primers to detect serotypes within serogroup-18.
Tanmoy Arif M, Saha Senjuti, Darmstadt Gary L, Whitney Cynthia G, Saha Samir K Journal of clinical microbiology 2016 6 0. . - Interim Guidance for Interpretation of Zika Virus Antibody Test Results.
Rabe Ingrid B, Staples J Erin, Villanueva Julie, Hummel Kimberly B, Johnson Jeffrey A, Rose Laura, , Hills Susan, Wasley Annemarie, Fischer Marc, Powers Ann M MMWR. Morbidity and mortality weekly report 2016 0 0. (21) 543-6. - Complete and Closed Genome Sequences of 10 Salmonella enterica subsp. enterica Serovar Anatum Isolates from Human and Bovine Sources.
Nguyen Scott V, Harhay Dayna M, Bono James L, Smith Timothy P L, Fields Patricia I, Dinsmore Blake A, Santovenia Monica, Kelley Christy M, Wang Rong, Bosilevac Joseph M, Harhay Gregory P Genome announcements 2016 0 0. (3) .
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