Publication Date: Jul 26, 2018
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
- The first successful application of preimplantation genetic diagnosis for hearing loss in Iran.
Karimi Yazdi Alireza et al. Cellular and molecular biology (Noisy-le-Grand, France) 2018 Jun 64(9) 1718 - Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
González-Gutiérrez-Solana Luis et al. Medicine 2018 Jul 97(29) e11246 - Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease.
Liu Dan et al. Open heart 2018 5(2) e000803 - Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
Aygören-Pürsün Emel et al. The New England journal of medicine 2018 Jul 379(4) 352-362 - Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
Adam Shelin et al. Journal of genetic counseling 2018 Jul - Genetic disorder plus prematurity: a diagnostic challenge.
Pettinger Katherine J et al. Archives of disease in childhood. Education and practice edition 2018 Jul
Cancer
- Poor Prognostic Implication of ASXL1 Mutations in Korean Patients With Chronic Myelomonocytic Leukemia.
Kim Hyun Young et al. Annals of laboratory medicine 2018 Nov 38(6) 495-502 - miRNA in a multiomic context for diagnosis, treatment monitoring and personalized management of metastatic breast cancer.
Zubor Pavol et al. Future oncology (London, England) 2018 Jul - Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician.
Coury Stephanie A et al. Pediatric annals 2018 May 47(5) e204-e216 - Mendelian randomization studies of cancer risk: a literature review.
Pierce Brandon L et al. Current epidemiology reports 2018 Jun 5(2) 184-196 - Genetic variants in nucleotide excision repair pathway predict survival of esophageal squamous cell cancer patients receiving platinum-based chemotherapy.
Zhang Ruoxin et al. Molecular carcinogenesis 2018 Jul - Clinical and pre-clinical utility of genomics in medulloblastoma.
Nör Carolina et al. Expert review of neurotherapeutics 2018 Jul - Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.
Ranola John Michael O et al. Familial cancer 2018 Jul - Pediatric cancer families' participation in whole-genome sequencing research in Denmark: Parent perspectives.
Byrjalsen Anna et al. European journal of cancer care 2018 Jul e12877 - Clinical validation of the next-generation sequencing-based Extended RAS Panel assay using metastatic colorectal cancer patient samples from the phase 3 PRIME study.
Udar Nitin et al. Journal of cancer research and clinical oncology 2018 Jul - Cancer of unknown primary-Epidemiological trends and relevance of comprehensive genomic profiling.
Binder Carmen et al. Cancer medicine 2018 Jul - Detection of EGFR mutations in plasma circulating tumour DNA as a selection criterion for first-line gefitinib treatment in patients with advanced lung adenocarcinoma (BENEFIT): a phase 2, single-arm, multicentre clinical trial.
Wang Zhijie et al. The Lancet. Respiratory medicine 2018 Jul - B-R-C-A Test Aren't Just For Women.. Men Should Be Tested Too
WXYZ, July 18, 2018 - HE4 and eIF3a Expression Correlates with Surgical Outcome and Overall Survival in Ovarian Cancer Patients with Secondary Cytoreduction.
Luo Chen-Hui et al. Journal of Cancer 2018 9(14) 2472-2479 - Association Analysis between Body Mass Index and Genomic DNA Methylation across 15 Major Cancer Types.
Gu Yinmin et al. Journal of Cancer 2018 9(14) 2532-2542 - Survival Outcomes by TP53 Mutation Status in Metastatic Breast Cancer.
Meric-Bernstam Funda et al. JCO precision oncology 2018 2018 - Inherited gynaecological cancers.
George Angela et al. Current opinion in oncology 2018 Jul - Years ago when my twin got breast cancer I took drastic action and am grateful I did
RO Selig, New Yorkt Times, May 2018 - Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.
McCuaig Jeanna M et al. Journal of medical genetics 2018 Jul - Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic.
Groves Andrew P et al. Journal of pediatric hematology/oncology 2018 Jul - Association of Transforming Growth Factor β Polymorphism C-509T With Radiation-Induced Fibrosis Among Patients With Early-Stage Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
Grossberg Aaron J et al. JAMA oncology 2018 Jul - BORDERLINE OVARIAN TUMORS SHARE FAMILIAL RISKS WITH ITSELF AND INVASIVE CANCERS.
Zheng Guoqiao et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Jul - A bias for action in cancer screening?
Scherer Laura D et al. Journal of experimental psychology. Applied 2018 Jul - Attitudes towards a programme of risk assessment and stratified management for ovarian cancer: a focus group study of UK South Asians' perspectives.
Hann Katie E J et al. BMJ open 2018 Jul 8(7) e021782 - Streamlining Decision Making in Contralateral Risk-Reducing Mastectomy: Impact of PREDICT and BOADICEA Computations.
de Silva Tania Samantha et al. Annals of surgical oncology 2018 Jul
Chronic Disease
- Differentially Methylated Genes in Saliva are linked to Childhood Stress.
Papale Ligia A et al. Scientific reports 2018 Jul 8(1) 10785 - Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.
Kumar Sumeet et al. Journal of genetics 2018 Jul 97(3) 625-648 - The time for next-generation molecular genetic diagnostics in nephrology is now!
Harris Peter C et al. Kidney international 2018 Aug 94(2) 237-239 - Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Tsai Meng-Han et al. Frontiers in neurology 2018 9515 - Protein affected by rare Parkinson’s mutation may lurk behind many cases of the disease
NIH News, July 25, 2018 - Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: does genetic risk affect family functioning?
Lopes Alice et al. Clinical genetics 2018 Jul - One woman’s race to defuse the genetic time bomb in her genes
A Regalado, Tech Review, July 23, 2018
Ethical, Legal and Social Issues (ELSI)
- Broad societal debate should inform the use of genome editing in reproduction
S Griffin, BMJ, July 23, 2018 - The Human Genome Editing Race: Loosening Regulatory Standards for Commercial Advantage?
Cathomen Toni et al. Trends in biotechnology 2018 Jul - The Price of Precision: Genetic Testing and Drug Costs in America.
Rich Kelly et al. Genetic testing and molecular biomarkers 2018 Jul 22(7) 403-404 - Decision Making: Approaches and Tools to Respond to Ethical Issues in Genetic and Genomic Nursing.
Steck Mary Beth et al. Clinical journal of oncology nursing 2018 Aug 22(4) 386-389 - Consent and participation in the 100,000 Genomes Project – public attitudes
Genomics England, July 18, 2018 - Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests.
Kilbride Madison K et al. JAMA oncology 2018 Jul - The Complexities of Ascertaining Public Preferences for Newborn Screening Policies.
Ross Lainie Friedman et al. The Journal of pediatrics 2018 Jul
General Practice
- Associations between Single Nucleotide Polymorphisms and Total Energy, Carbohydrate, and Fat Intakes: A Systematic Review.
Drabsch Theresa et al. Advances in nutrition (Bethesda, Md.) 2018 Jul 9(4) 425-453 - Color Vision Tests in Pilots' Medical Assessments.
Marechal Marie et al. Aerospace medicine and human performance 2018 Aug 89(8) 737-743 - Calibrating scientific skepticism – a wider look at the field of transgenerational epigenetics
K Mitchell, Wiring the Brain Blog, July 22, 2018 - The Future Is Data- Precision medicine symposium focuses on data sharing, costs, access
N Fliesler, Harvard Medical School. July 2018 - Health Disparities in Implementation of Genomic Medicine: Challenges and Opportunities
CDC Webinar, August 24, 2018 - Why is it important to know my family medical history?
National Library of Medicine, Genetics Home Reference, July 2018 - Machine Learning
NIH Catalyst, July 2018 - Precision Medicine Success Hinges On Diagnostics' Clinical Utility,
by Joshua Cohen, Forbes, July 23, 2018 - AP-NORC Poll: If DNA shows health risks, most want to know
L Neegaard et al, AP, July 19, 2018 - CRISPR/Cascade 9-Mediated Genome Editing-Challenges and Opportunities.
Roy Bhaskar et al. Frontiers in genetics 2018 9240 - Results of the UK NEQAS for Molecular Genetics reference sample analysis.
Richman Susan D et al. Journal of clinical pathology 2018 Jul - Experiences of patients seeking to participate in variant of uncertain significance reclassification research.
Makhnoon Sukh et al. Journal of community genetics 2018 Jul - Next-gen precision medicine: Consumerism, EHR integration, SMART on FHIR
B Siwicki, Healthcare IT News, July 23, 2018
Heart, Lung, Blood and Sleep Diseases
- Clinical and genetic ancestry profile of a large multi-centre sickle cell disease cohort in Brazil.
Carneiro-Proietti Anna B F et al. British journal of haematology 2018 Jul - Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.
Bagnall Richard D et al. Journal of the American College of Cardiology 2018 Jul 72(4) 419-429 - Genome Sequencing in Hypertrophic Cardiomyopathy.
Ashley Euan A et al. Journal of the American College of Cardiology 2018 Jul 72(4) 430-433 - Precision medicine in COPD exacerbations.
Agusti Alvar et al. The Lancet. Respiratory medicine 2018 Jul - Should we screen hereditary thrombophilia testing in patients with provoked/unprovoked venous thromboembolism?
Ulas Turgay et al. International journal of cardiology 2018 Jul - The Subtype Specificity of Genetic Loci Associated with Stroke in 16,664 cases and 32,792 controls
M Traylor et al, BioRxIV, July 20, 2018 - The Road to There`
C Herrera, American Heart Association Blog, July 16, 2018 - Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.
Marateb Hamid R et al. Computational and structural biotechnology journal 2018 16121-130 - South Asian Cardiovascular Disease & Cancer Risk: Genetics & Pathophysiology.
Palaniappan Latha et al. Journal of community health 2018 Jun - Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.
Mak Timothy Shin Heng et al. Scientific reports 2018 Jul 8(1) 10846
Newborn Screening
- An Assessment of Public Preferences for Newborn Screening Using Best-Worst Scaling.
Tarini Beth A et al. The Journal of pediatrics 2018 Jul - Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo Xiaomei et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Jul - Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016.
Jones David E et al. MMWR. Morbidity and mortality weekly report 2018 Jul 67(28) 782-785
Pharmacogenomics
- Clinical outcomes of CYP2C19 genotype-guided antiplatelet therapy: existing evidence and future directions.
Klein Melissa D et al. Pharmacogenomics 2018 Jul - Single Nucleotide Polymorphisms in TAOK3 Are Associated with High Opioid Requirement for Pain Management in Patients with Advanced Cancer Admitted to a Tertiary Palliative Care Unit.
Gutteridge Timothy et al. Journal of pain and symptom management 2018 Jul - Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M)
JP Woolley et al, npj Genomic Medicine, July 23, 2018
Reproductive Health
- Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.
Vora Neeta L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul - Parental Perceptions of Prenatal Whole Exome Sequencing (PPPWES) Study.
Wou Karen et al. Prenatal diagnosis 2018 Jul - Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age.
Kim Soo Min et al. Obstetrics & gynecology science 2018 Jul 61(4) 453-460 - Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.
Clarke Elizabeth V et al. PloS one 2018 13(7) e0200139 - Performance and outcomes of noninvasive prenatal testing for twin pregnancies in Japan.
Takeda Eri et al. The journal of obstetrics and gynaecology research 2018 Jul - Clinical Impact and Cost-Effectiveness of a 176-Condition Expanded Carrier Screen
KA Beachamp et al, BioRXIV, July 2018
Event
- Genome editing and human reproduction: The Nuffield Council on Bioethics' report,
by Dr Peter Mills, BioNews, July 23, 2018
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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