Publication Date: Oct 25, 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
- Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.
Tester David J et al. The Journal of pediatrics 2018 Sep - VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
Keating Dominic et al. The New England journal of medicine 2018 Oct - A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Ezquerra-Inchausti Maitane et al. Scientific reports 2018 Oct 8(1) 15457 - Triple CFTR Modulator Therapy for Cystic Fibrosis.
Holguin Fernando et al. The New England journal of medicine 2018 Oct - Evaluation of a Novel Quantitative Test for Glucose-6-Phosphate Dehydrogenase Deficiency: Bringing Quantitative Testing for Glucose-6-Phosphate Dehydrogenase Deficiency Closer to the Patient.
Pal Sampa et al. The American journal of tropical medicine and hygiene 2018 Oct
Cancer
- Polygenic prediction of breast cancer: comparison of genetic predictors and implications for screening
L Lall et al, BioRXIV, October 22, 2018 - Integrated extracellular microRNA profiling for ovarian cancer screening.
Yokoi Akira et al. Nature communications 2018 Oct 9(1) 4319 - Screening and surveillance in hereditary gastrointestinal cancers: Recommendations from the European Society of Digestive Oncology (ESDO) expert discussion at the 20th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona, June 2018.
Vangala Deepak B et al. European journal of cancer (Oxford, England : 1990) 2018 Oct 10491-103 - Identification of a panel of genes as a prognostic biomarker for glioblastoma.
Wang Fengfei et al. EBioMedicine 2018 Oct - A predictive model for high/low risk group according to oncotype DX recurrence score using machine learning.
Kim Isaac et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2018 Oct - Evaluation of the BRCAness phenotype and its correlations with clinicopathologic features in triple-negative breast cancers.
Tian Tian et al. Human pathology 2018 Oct - Identifying patients with a history of ovarian cancer for referral for genetic counselling: non-randomised comparison of two case-finding strategies in primary care.
Helsper Charles W et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2018 Oct - Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.
Ryu Jai Min et al. Breast cancer research and treatment 2018 Oct - Colorectal cancer susceptibility loci and influence on survival.
Song Nan et al. Genes, chromosomes & cancer 2018 Oct - Phenotypic and molecular dissection of Metaplastic Breast Cancer and the prognostic implications.
McCart Reed Amy Ellen et al. The Journal of pathology 2018 Oct - Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies.
Kim Borahm et al. The Journal of molecular diagnostics : JMD 2018 Oct - Cancer-related distress in unselected women with newly diagnosed breast or ovarian cancer undergoing BRCA1/2 testing without pretest genetic counseling.
Høberg-Vetti Hildegunn et al. Acta oncologica (Stockholm, Sweden) 2018 Oct 1-7 - A novel prognostic signature of seven genes for the prediction in patients with thymoma.
Li Qiang et al. Journal of cancer research and clinical oncology 2018 Oct - Adult physical activity and breast cancer risk in women with a family history of breast cancer.
Niehoff Nicole M et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Oct - Bioinformatics Analysis of Whole Exome Sequencing Data.
Ulintz Peter J et al. Methods in molecular biology (Clifton, N.J.) 2019 1881277-318 - Association of BRCA1 185 del AG with early age onset of breast cancer patients in selected cohort from Pakistani population.
Durr-E-Samin et al. Pakistan journal of medical sciences 34(5) 1158-1163 - Local Consolidation Therapy (LCT) After First Line Tyrosine Kinase Inhibitor (TKI) for Patients With EGFR Mutant Metastatic Non-small-cell Lung Cancer (NSCLC).
Elamin Yasir Y et al. Clinical lung cancer 2018 Sep - Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging.
Rogowski-Lehmann Natalie et al. Endocrine connections 2018 Sep - Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group.
Xu Xinjie et al. Cancer genetics 2018 Oct - Treatment Patterns by EGFR Mutation Status in Non-Small Cell Lung Cancer Patients in the USA: A Retrospective Database Analysis.
Aguilar Kathleen M et al. Advances in therapy 2018 Oct - Genetic and immunological biomarkers predict metastatic disease recurrence in stage III colon cancer.
Sperlich Andreas et al. BMC cancer 2018 Oct 18(1) 998 - The genotype for DPYD risk variants in colorectal cancer patients and the related toxicity management costs in clinical practice.
Toffoli Giuseppe et al. Clinical pharmacology and therapeutics 2018 Oct
Chronic Disease
- Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.
Gay Elizabeth A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Niestroj Lisa-Marie et al. Epilepsia 2018 Oct - Pharmacogenomics and Biomarkers of Depression.
Jha Manish K et al. Handbook of experimental pharmacology 2018 Oct - Alzheimer's Biomarkers From Multiple Modalities Selectively Discriminate Clinical Status: Relative Importance of Salivary Metabolomics Panels, Genetic, Lifestyle, Cognitive, Functional Health and Demographic Risk Markers.
Sapkota Shraddha et al. Frontiers in aging neuroscience 2018 10296 - Alzheimer Disease: Perspectives from Epidemiology and Genetics.
Haines Jonathan L et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2018 Sep 46(3) 694-698 - Associations between polygenic risk scores for four psychiatric illnesses and brain structure using multivariate pattern recognition.
Ranlund Siri et al. NeuroImage. Clinical 2018 Oct 201026-1036 - Development, application, and results from a precision-medicine platform that personalizes multi-modal treatment plans for mild Alzheimer's disease and at-risk individuals.
Keine Dorothy et al. Current aging science 2018 Oct - Genome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide
H Coon et al, Mol Psychiatry, October 23, 2018 - Provider bias as a function of patient genotype: polygenic score analysis among diabetics from the Health and Retirement Study.
Huibregtse B M et al. Obesity science & practice 2018 Oct 4(5) 448-454 - C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.
Ida Cristiane M et al. Neuro-degenerative diseases 2018 Oct 18(5-6) 239-253 - Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease.
Soroka Steven et al. Canadian journal of kidney health and disease 2018 52054358118801589 - Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.
Furlano Mónica et al. American journal of nephrology 2018 Oct 48(4) 308-317 - BDNF rs6265 polymorphism methylation in Multiple Sclerosis: A possible marker of disease progression.
Nociti Viviana et al. PloS one 2018 13(10) e0206140
Ethical, Legal and Social Issues (ELSI)
- Time to End the Use of Genetic Test Results in Life Insurance Underwriting.
Rothstein Mark A et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2018 Sep 46(3) 794-801 - Use the patent system to regulate gene editing
S. Parthasaraty, Nature, October 23, 2018
General Practice
- The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design
P Lacaze et al, EJHG, October 24, 2018 - Implementing a personalized medicine program in a community health system.
Dressler Lynn G et al. Pharmacogenomics 2018 Oct - UK Biobank - a new era in genomic medicine.
Bahcall Orli G et al. Nature reviews. Genetics 2018 Oct - An atlas of genetic associations in UK Biobank.
Canela-Xandri Oriol et al. Nature genetics 2018 Oct - Obtaining a Genetic Family History Using Computer-Based Tools.
Li Weilong et al. Current protocols in human genetics 2018 Oct e72 - Making Sense of the Genome Remains a Work in Progress.
Burke Wylie et al. JAMA 2018 320(12) 1247-1248
Heart, Lung, Blood and Sleep Diseases
- A stroke gene panel for whole-exome sequencing
A Ilinca et al, EJHG, October 24, 2018 - Genetic risk, incident stroke, and the benefits of adhering to a healthy lifestyle: cohort study of 306 473 UK Biobank participants
LCA Rutten-Jacobs et al, BMJ, October 24, 2018 - Next generation MicroRNA sequencing to identify coronary artery disease patients at risk of recurrent myocardial infarction.
Kanuri Sri H et al. Atherosclerosis 2018 Oct 278232-239 - Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young.
Bates Kezia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Clinical predictors of informative genetic testing in hypertrophic cardiomyopathy.
Naraen Akriti et al. European journal of preventive cardiology 2018 Oct 2047487318808044 - Prognostic impact of familial hypercholesterolemia on long-term outcomes in patients undergoing percutaneous coronary intervention.
Tscharre Maximilian et al. Journal of clinical lipidology 2018 Sep - Hereditary Hemochromatosis
Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems - Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis.
Smith Daniel J et al. Gene 2018 Oct 68312-17 - Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study.
Nowak Albina et al. Medicine 2018 Oct 97(42) e12886 - A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson Ben et al. Research and practice in thrombosis and haemostasis 2018 Oct 2(4) 640-652 - Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients.
Sood Nikita et al. Pharmacogenetics and genomics 2018 Nov 28(11) 256-259
Newborn Screening
- [Neonatal screening for cystic fibrosis : towards a national implementation in Belgium in 2019].
Boboli H et al. Revue medicale de Liege 2018 Oct 73(10) 497-501 - [Sickle Cell Disease in Newborns in Germany: Analysis of the AOK Health Insurance Data].
Pattloch Dagmar et al. Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany)) 2018 Oct - Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Lobitz Stephan et al. British journal of haematology 2018 Oct
Pharmacogenomics
- Novel Implementation of Genotype-Guided Proton Pump Inhibitor Medication Therapy in Children: A Pilot, Randomized, Multisite Pragmatic Trial.
Cicali Emily J et al. Clinical and translational science 2018 Oct - Associations of the SLCO1B1 Polymorphisms With Hepatic Function, Baseline Lipid Levels, and Lipid-lowering Response to Simvastatin in Patients With Hyperlipidemia.
Wu Xiangyu et al. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2018 Oct 1076029618805863 - Survival analysis of carboplatin added to an anthracycline/taxane-based neoadjuvant chemotherapy and HRD score as predictor of response - final results from GeparSixto.
Loibl S et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Oct
Reproductive Health
- Does genetic risk for common adult diseases influence reproductive plans? Evidence from a national survey experiment in the United States.
Pinar Candas et al. Social science & medicine (1982) 2018 Sep 21862-68 - Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals.
Kater-Kuipers A et al. BMC pregnancy and childbirth 2018 Oct 18(1) 409 - Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens.
Kaseniit Kristjan Eerik et al. BMC medical genomics 2018 Oct 11(1) 90 - Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates.
Peyser Alexandra et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Decision-making surrounding the use of preimplantation genetic testing for aneuploidy reveals misunderstanding regarding its benefit.
Quinn Molly M et al. Journal of assisted reproduction and genetics 2018 Oct - The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Muys Joke et al. Prenatal diagnosis 2018 Oct
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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