Publication Date: Aug 24, 2017
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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Your life is leaving genetic scars that might show up in your child's genes
CBC News, August 19, 2017 - Sports participation recommendations for patients with bleeding disorders.
Howell Cailly et al. Translational pediatrics 2017 Jul 6(3) 174-180 - Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.
Dewar Laura J et al. Circulation. Cardiovascular genetics 2017 Aug 10(4) - The role of recombinant activated factor VII in the haematological management of elective orthopaedic surgery in haemophilia A patients with inhibitors.
Castaman Giancarlo et al. Blood transfusion = Trasfusione del sangue 2017 May 1-9 - Genetic Testing for Inherited Retinal Disease.
Moore Anthony T et al. Ophthalmology 2017 Sep 124(9) 1254-1255 - Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
Stone Edwin M et al. Ophthalmology 2017 Sep 124(9) 1314-1331 - Application of genomics for transfusion therapy in sickle cell anemia.
Chou Stella T et al. Blood cells, molecules & diseases 2017 Aug - Hemophilia Treatment Center (HTC) Directory
- Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives.
Araujo Alexandra P Q C et al. Arquivos de neuro-psiquiatria 2017 Aug 75(8) 104-113 - Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany Aurélie et al. European journal of medical genetics 2017 Aug - A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.
Takeuchi Fumi et al. Neuromuscular disorders : NMD 2017 Jul
Cancer
- Neratinib Approved by FDA for HER2-Positive Breast Cancer
NCI, August 23, 2017 - More Young People Are Dying of Colon Cancer
RC Rabin, New York Times, August 22, 2017 - 3 Misconceptions about BRCA Gene Mutations
Bright Pink Blog, August 17, 2017 - Introducing a Comprehensive Informatics Framework to Promote Breast Cancer Risk Assessment and Chemoprevention in the Primary Care Setting.
Finkelstein Joseph et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 201758-67 - Inclusion of a Genetic Risk Score into a Validated Risk Prediction Model for Colorectal Cancer in Japanese Men Improves Performance.
Iwasaki Motoki et al. Cancer prevention research (Philadelphia, Pa.) 2017 Jul - Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.
Johnatty Sharon E et al. Gynecologic oncology 2017 Aug - HER2 testing in advanced gastric and gastro-oesophageal cancer: analysis of an Australia-wide testing program.
Kumarasinghe M Priyanthi et al. Pathology 2017 Aug - Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a one-step diagnostic work-flow.
Schmidt Ane Y et al. The Journal of molecular diagnostics : JMD 2017 Aug - College Women's Responses to a Celebrity Health Disclosure.
Drizin Julia H et al. Health communication 2017 Aug 1-6 - Impact of 70-Gene Signature Use on Adjuvant Chemotherapy Decisions in Patients With Estrogen Receptor-Positive Early Breast Cancer: Results of a Prospective Cohort Study.
Kuijer Anne et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Aug 35(24) 2814-2819 - Blood test predicts prostate tumor resistance
Science Mag, August 22, 2017 - Blood Test Finds Cancer Before Symptoms Start
M Fox, NBC News Health Blog, August 17, 2017 - Persisting Racial Disparities in Colonoscopy Screening of Persons with a Family History of Colorectal Cancer.
Tsai Meng-Han et al. Journal of racial and ethnic health disparities 2017 Aug - Treatment monitoring in metastatic colorectal cancer patients by quantification and KRAS genotyping of circulating cell-free DNA.
Berger Andreas W et al. PloS one 2017 12(3) e0174308 - Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.
Rubin Tamar S et al. Blood 2017 Jun 129(22) 2993-2999 - Genomic architecture and treatment outcome in pediatric acute myeloid leukemia: a Children's Oncology Group report.
Vujkovic Marijana et al. Blood 2017 Jun 129(23) 3051-3058 - Retaining one normal BRCA gene in breast, ovarian cancers influences patient survival
Eureka Alert, August 22, 2017 - Gut bacteria associated with cancer immunotherapy response in melanoma
Science Mag, August 20, 2017 - Screening for familial cancer risk: Focus on breast cancer.
Rousset-Jablonski Christine et al. Maturitas 2017 Aug - Importance of PCR-based Tumor Testing in the Evaluation of Lynch Syndrome-associated Endometrial Cancer.
Bruegl Amanda S et al. Advances in anatomic pathology 2017 Aug - National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.
Childers Christopher P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Aug JCO2017736314 - Prostate Cancer Prevention
- AMBIGUITY IN A MASCULINE WORLD: Being a BRCA1/2 mutation carrier and a man with prostate cancer.
Moynihan C et al. Psycho-oncology 2017 Aug - Role of Next-Generation Sequencing as a Diagnostic Tool for the Evaluation of Bone and Soft-Tissue Tumors.
Szurian Kinga et al. Pathobiology : journal of immunopathology, molecular and cellular biology 2017 Aug - Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making.
Abida Wassim et al. JCO precision oncology 2017 Jul 2017
Chronic Disease
- Genetic Basis of Sudden Unexpected Death in Epilepsy.
Bagnall Richard D et al. Frontiers in neurology 2017 8348 - Polygenic Scores for Major Depressive Disorder and Risk of Alcohol Dependence.
Andersen Allan M et al. JAMA psychiatry 2017 Aug - Discrepancies in genetic testing results for coeliac disease: call for standardised testing and reporting.
Daveson A James M et al. The Medical journal of Australia 2017 Aug 207(4) 179-180 - Progress in Defining the Genetic Basis of Diabetic Complications.
Dahlström Emma et al. Current diabetes reports 2017 Sep 17(9) 80 - Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge.
Leite Ângela et al. Public health genomics 2017 Aug - Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research.
Sundby Anna et al. American journal of medical genetics. Part A 2017 Aug - Genetics of Alzheimer's Disease: the Importance of Polygenic and Epistatic Components.
Raghavan Neha et al. Current neurology and neuroscience reports 2017 Aug 17(10) 78 - Unraveling the genes implicated in Alzheimer's disease.
Giri Mohan et al. Biomedical reports 2017 Aug 7(2) 105-114 - 5 Things You Should Know About Epilepsy
- Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing.
Tavares Isabel et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2017 Aug 70(2) 235-243
Ethics/Policy/Law
- Transparency of Biobank Access in Canada: An Assessment of Industry Access and the Availability of Information on Access Policies and Resulting Research.
Gibson Shannon G et al. Journal of empirical research on human research ethics : JERHRE 2017 Aug 1556264617723137 - Deriving genomic diagnoses without revealing patient genomes
KA Jagadeesh et al,. Science, August 17, 2017 - Yours, mine, or ours: cautions about LRT.
Bonython Wendy Elizabeth et al. Journal of medical ethics 2017 Aug - Nobody's DNA but mine.
Loi Michele et al. Journal of medical ethics 2017 Aug - Direct to consumer genetic testing and the libertarian right to test.
Bonython Wendy Elizabeth et al. Journal of medical ethics 2017 Aug
Practice
- Change Is Hard to Do,
Genome Web, August 17, 2017 - What is transcriptomics?
L Blackburn, PHG Foundation, August 18, 2017 - Few direct-to-consumer test users receive genetic counseling: More consumers discuss results with primary care physicians.
et al. American journal of medical genetics. Part A 2017 Sep 173(9) 2304-2305 - Accuracy and utility of an epigenetic biomarker for smoking in populations with varying rates of false self-report.
Andersen Allan M et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Sep 174(6) 641-650 - Patient and Physician Perceptions of Genetic Testing in Primary Care.
Evenson Samuel A et al. South Dakota medicine : the journal of the South Dakota State Medical Association 2016 Nov 69(11) 487-493 - Genomic Medicine in Primary Care.
Hajek Catherine et al. South Dakota medicine : the journal of the South Dakota State Medical Association No62-65 - A long journey to reproducible results
GL Lithgow et al, Nature, Augst 2017 - How Sensors Might Help Define the External Exposome.
Loh Miranda et al. International journal of environmental research and public health 2017 Apr 14(4) - Empowering Mayo Clinic Individualized Medicine with Genomic Data Warehousing.
Horton Iain et al. Journal of personalized medicine 2017 Aug 7(3) - Genome-wide association studies using a penalized moving-window regression
Minli Bao, et al. Bioinformatics btx522, August 17, 2017 - Genomic medicine is going mainstream and pharmacists need to be prepared,
by Julia Robinson, The Pharmaceutical Journal, August 17, 2017 - Deriving genomic diagnoses without revealing patient genomes.
Jagadeesh Karthik A et al. Science (New York, N.Y.) 2017 Aug 357(6352) 692-695 - Improving Human Health: The Promise of Epigenetics
Shankar Balasubramanian, GEN New, auguist 2017 - George Davey Smith - How our genes conduct randomized trials
YouTube Video - NIH-CDC Webinar: Precision Medicine and Health Disparities: The Promise and Perils of Emerging Technologies
October 11, 2017: 3:00-4:00 pm EDT, free registration required - 'Omics' and endocrine-disrupting chemicals - new paths forward.
Messerlian Carmen et al. Nature reviews. Endocrinology 2017 Jul - Assessment of Direct-to-Consumer Genetic Testing Policy in Korea Based on Consumer Preference.
Jeong Gicheol et al. Public health genomics 2017 Aug - Genetic Testing: What Problem Are We Trying to Solve?
Hughes Kevin S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Aug JCO2017747899 - Evidence-Based Precision Medicine is Needed to Move Toward General Internal Precision Medicine.
Jaccard Evrim et al. Journal of general internal medicine 2017 Aug - Precision medicine: In need of guidance and surveillance.
Lin Jian-Zhen et al. World journal of gastroenterology 2017 Jul 23(28) 5045-5050 - Analytic Complexity and Challenges in Identifying Mixtures of Exposures Associated with Phenotypes in the Exposome Era.
Patel Chirag J et al. Current epidemiology reports 2017 4(1) 22-30 - The Exposome Research Paradigm: an Opportunity to Understand the Environmental Basis for Human Health and Disease.
Buck Louis Germaine M et al. Current environmental health reports 2017 Mar 4(1) 89-98 - Counseling Close to Home: Genetic Counselors' Experiences with their own Family Members.
Rust Laura et al. Journal of genetic counseling 2017 Aug - Systematic Analysis of Free-Text Family History in Electronic Health Record.
Wang Yanshan et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017104-113 - DNA test results may not change health habits, research suggests
M Ritter, Globe and Mail, August 17, 2017 - Barriers and Facilitating Factors for Implementation of Genetic Services: A Public Health Perspective.
Cornel Martina C et al. Frontiers in public health 2017 5195
Cardiovascular Diseases
- PCSK9 inhibition in the management of familial hypercholesterolemia.
Ogura Masatsune et al. Journal of cardiology 2017 Aug - Cholesterol Management in the Era of PCSK9 Inhibitors.
Svatikova Anna et al. Current cardiology reports 2017 Sep 19(9) 83 - Effect of intensive LDL cholesterol lowering with PCSK9 monoclonal antibodies on tendon xanthoma regression in familial hypercholesterolemia.
Bea Ana M et al. Atherosclerosis 2017 Aug 26392-96 - Methodological Rigor in Preclinical Cardiovascular Studies: Targets to Enhance Reproducibility and Promote Research Translation.
Ramirez F Daniel et al. Circulation research 2017 Jun 120(12) 1916-1926 - PCSK9 Inhibitors, Statins, Low-Density Lipoprotein Cholesterol, Mevalonate Pathway, and Toxicity.
Guijarro Carlos et al. JAMA cardiology 2017 Aug - PCSK9 Inhibitors, Statins, Low-Density Lipoprotein Cholesterol, Mevalonate Pathway, and Toxicity-Reply.
Koren Michael J et al. JAMA cardiology 2017 Aug - Assessment of physicians' awareness and knowledge of familial hypercholesterolemia in Saudi Arabia: Is there a gap?
Batais Mohammed Ali et al. PloS one 2017 12(8) e0183494 - Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians.
Care Melanie et al. Current cardiology reports 2017 Aug 19(9) 88
Newborn Screening
- Newborn screening for sickle cell disorders using tandem mass spectrometry: three years' experience of using a protocol to detect only the disease states.
Moat Stuart J et al. Annals of clinical biochemistry 2017 Sep 54(5) 601-611 - Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Bailey Donald B et al. Pediatrics 2017 Jun 139(Suppl 3) S216-S225 - Assessing the Fragile X Syndrome Newborn Screening Landscape.
Riley Catharine et al. Pediatrics 2017 Jun 139(Suppl 3) S207-S215
Pharmacogenomics
- Characterizing the Strength of Evidence in FDA Labels for Pharmacogenomic Biomarker-Guided Medication Use.
Chin Lauren et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 201730-39 - The pharmacogenetics of metformin.
Florez Jose C et al. Diabetologia 2017 Aug - Design Recommendations for Pharmacogenomics Clinical Decision Support Systems.
Khelifi Maher et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017237-246 - A Knowledge-based System for Intelligent Support in Pharmacogenomics Evidence Assessment: Ontology-driven Evidence Representation and Retrieval.
Lee Chia-Ju et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017175-184
Reproductive Health
- Can We Improve Risk Communication about Non-Invasive Prenatal Testing?
Petrova Dafina et al. BJOG : an international journal of obstetrics and gynaecology 2017 Aug - Hype versus reality in human embryo genome editing
T Bridgen et al, PHG Foundation, August 17, 2017 - How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?
Mapes Marianna V et al. AMA journal of ethics 2017 Jul 19(7) 663-674
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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