Publication Date: Sep 6, 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
- Scientists Are Retooling Bacteria to Cure Disease By manipulating DNA, researchers are trying to create microbes that, once ingested, work to treat a rare genetic condition —a milestone in synthetic biology.
C Zimmer, NY Times, September 4, 2018 - Biorepository and integrative genomics initiative: designing and implementing a preliminary platform for predictive, preventive and personalized medicine at a pediatric hospital in a historically disadvantaged community in the USA.
Jose Rony et al. The EPMA journal 2018 Sep 9(3) 225-234 - Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Kernohan Kristin D et al. American journal of medical genetics. Part A 2018 Jul 176(7) 1688-1691 - Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.
Remiche Gauthier et al. Journal of neuromuscular diseases 2018 Aug - PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.
Fujiwara Toyofumi et al. American journal of human genetics 2018 Aug - Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry.
Huemer Martina et al. Journal of inherited metabolic disease 2018 Sep - Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.
Rutz Audrey et al. Journal of autism and developmental disorders 2018 Sep - [FROM GENETICS OF FRAGILE X SYNDROME TO DEVELOPMENT OF TARGETED AND PERSONALIZED DRUG THERAPY].
Gabis Lidia V et al. Harefuah 2018 Aug 157(8) 529-533 - Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018 - What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children
S Grosse, CDC Blog, 2018 - Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome.
Dailey-Schwartz Andrew L et al. The Journal of pediatrics 2018 Aug - Impact of next generation sequencing on our understanding of CAKUT.
Nigam Anukrati et al. Seminars in cell & developmental biology 2018 Aug - Use of Electronic Health Record Integration for Down Syndrome Guidelines.
Santoro Stephanie L et al. Pediatrics 2018 Sep 142(3) - Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases.
Peyron Christine et al. Social science & medicine (1982) 2018 Aug 214125-132
Cancer
- When Should You Be Screened for Colorectal Cancer?
S Bowen et al, CDC Blog Post, August 30, 2018 - Family History and Cancer
CDC Division of Cancer Control and Prevention, 2018 - Primary and secondary mucosal melanoma of the small intestine - a clinical, pathological, and genetic nationwide survey of Danish patients between 1980 and 2014.
Tingsgaard Jakob Koefoed et al. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2018 Sep 126(9) 739-745 - Cancer genetics, precision prevention and a call to action.
Turnbull Clare et al. Nature genetics 2018 Sep 50(9) 1212-1218 - Broad Genomic Testing in NSCLC: No Survival Benefit?
et al. Cancer discovery 2018 Aug - Know Your Body. Know Your Family History.
Sun Hee Rim et al, CDC Blog, August 2018 - Precision medicine in pediatric oncology.
Burdach Stefan E G et al. Molecular and cellular pediatrics 2018 Aug 5(1) 6 - BRCA1 and BRCA2 Testing in Medically Underserved Medicare Beneficiaries With Breast or Ovarian Cancer.
Gross Amy L et al. JAMA 2018 Aug 320(6) 597-598 - Addition of a polygenic risk score, mammographic density, and endogenous hormones to existing breast cancer risk prediction models: A nested case-control study.
Zhang Xuehong et al. PLoS medicine 2018 Sep 15(9) e1002644 - Tumor copy number alteration burden is a pan-cancer prognostic factor associated with recurrence and death.
Hieronymus Haley et al. eLife 2018 Sep 7 - Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
Li Jingmei et al. International journal of cancer 2018 Sep - The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation.
Li Meng et al. Journal of genetic counseling 2018 Sep - Genomic Prostate Score, PI-RADSv2, and Progression in Men with Prostate Cancer on Active Surveillance.
Kornberg Zachary et al. The Journal of urology 2018 Sep - Knowledge, Beliefs, and Attitudes About Breast Cancer Screening in Latin America and the Caribbean: An In-Depth Narrative Review.
Doede Aubrey L et al. Journal of global oncology 2018 Aug (4) 1-25 - The utility of Leventhal's model in the analysis of the psycho-behavioral implications of familial cancer - a literature review.
Postolica Roxana et al. Archives of medical science : AMS 2018 Aug 14(5) 1144-1154 - Surgery for BRCA , TP53 and PALB2: a literature review.
Song Chin-Vern et al. Ecancermedicalscience 2018 12863 - Challenges and Opportunities in Social Epigenomics and Cancer.
Banaudha Krishna et al. Methods in molecular biology (Clifton, N.J.) 2018 1856233-243 - Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
Theobald Kristin A et al. Annals of surgical oncology 2018 Aug - Epigenome-Based Precision Medicine in Lung Cancer.
Kim Dongho et al. Methods in molecular biology (Clifton, N.J.) 2018 185657-85
Chronic Disease
- Biomarkers and Precision Medicine in IgA Nephropathy.
Schena Francesco Paolo et al. Seminars in nephrology 2018 Sep 38(5) 521-530 - Absolute 10-year risk of dementia by age, sex and APOE genotype: a population-based cohort study.
Rasmussen Katrine L et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Sep 190(35) E1033-E1041 - Precision medicine in lupus nephritis: can biomarkers get us there?
Caster Dawn J et al. Translational research : the journal of laboratory and clinical medicine 2018 Aug - Artificial intelligence spots obesity from space
M Huston, Science Mag, August 31, 2018 - 10-year risk estimates for dementia may help early targeted prevention
Science Blog, September 4, 2018 - Aging Connection-Study identifies molecular link between aging and neurodegeneration
K Jiang, Harvard Medical School, August 2018 - Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease.
Winslow Ashley R et al. Scientific reports 2018 Aug 8(1) 12992 - On the personal utility of Alzheimer's disease-related biomarker testing in the research context.
Bunnik Eline M et al. Journal of medical ethics 2018 Aug - Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.
Lanktree Matthew B et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2018 Aug - Use of Deep Learning to Examine the Association of the Built Environment With Prevalence of Neighborhood Adult Obesity
A Maharana et al, JAMA Network, August 31, 2018
Ethical, Legal and Social Issues (ELSI)
- Privacy Safeguards- All of Us uses high quality security technology to help keep participant data safe.
All of US Research Program, 2018 - Ethical and Counseling Challenges in Prenatal Exome Sequencing.
Harris Sarah et al. Prenatal diagnosis 2018 Sep - Pharmacogenetic Labeling of FDA-Approved Drugs: A Regulatory Retrospective.
Drozda Katarzyna et al. JACC. Basic to translational science 2018 Aug 3(4) 545-549 - Medicare-funded cancer genetic tests: a note of caution.
Kirk Judy et al. The Medical journal of Australia 2018 Aug 209(5) 193-196 - Ethical approach to the genetic, biometric and health data protection and processing in the new EU General Data Protection Regulation (2018).
Olimid Anca Parmena et al. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2018 59(2) 631-636 - Genetic Risk in Insurance Field.
Bin Paola et al. Open medicine (Warsaw, Poland) 2018 13294-297
General Practice
- "Precision” Public Health — Between Novelty and Hype
M Chowkwanyun et al, NEJM, September 5, 2018 - The personalised medicine technology landscape
The PHG Foundation, September 5, 2018 - A tale of tails: polygenic risk scores and healthcare reimagined
R Plenge, Blog post, August 28, 2018 - Integrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health
CDC webinar, October 11, 2018, 1:00-3:00 pm EDT - Would you have your genome sequenced?
S Sanderson, TedX video, 2018 - Genetic risks and clinical rewards.
Schork Andrew J et al. Nature genetics 2018 Sep 50(9) 1210-1211 - Family health history and genetic services-the East Baltimore community stakeholder interview project.
Sanghavi Kunal et al. Journal of community genetics 2018 Aug - Diet, Microbiome, and Epigenetics in the Era of Precision Medicine.
Riscuta Gabriela et al. Methods in molecular biology (Clifton, N.J.) 2018 1856141-156 - First test of in-body gene editing shows promise- Preliminary results suggest that treatment for rare disease is safe, but its effectiveness is unclear
H Ledford, Nature, September 5, 2018 - Epidemiology at a time for unity.
Lau Bryan et al. International journal of epidemiology 2018 Aug - Epigenetics: Grappling with definitions
B Nerlich, University of Nottinghman blog, August 31, 2018 - Principles of DNA methylation and their implications for biology and medicine.
Dor Yuval et al. Lancet (London, England) 2018 Aug - Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.
Delanne J et al. European journal of medical genetics 2018 Aug - Improving observational studies in the era of big data
J Jill et al, Lancet, Sept 1, 2018 - Genetic Testing and Professional Responsibility: The Italian Experience.
Bin Paola et al. Open medicine (Warsaw, Poland) 2018 13298-300
Heart, Lung, Blood and Sleep Diseases
- Sickle Cell Disease Awareness Month
Office of Minority Health, HHS, September, 2018 - Exercise Training for Patients With Hypertrophic Cardiomyopathy: JACC Review Topic of the Week.
Dias Katrin A et al. Journal of the American College of Cardiology 2018 Sep 72(10) 1157-1165 - Role of CYP1A1, ABCG2, CYP24A1 and VDR gene polymorphisms on the evaluation of cardiac iron overload in thalassaemia patients.
Allegra Sarah et al. Pharmacogenetics and genomics 2018 Sep - Relation Between Religious Perspectives and Views on Sickle Cell Disease Research and Associated Public Health Interventions in Ghana.
Dennis-Antwi Jemima A et al. Journal of genetic counseling 2018 Sep - Clinical management of heterozygous familial hypercholesterolemia in a Polish outpatient metabolic clinic: a retrospective observational study.
Klosiewicz-Latoszek Longina et al. Archives of medical science : AMS 2018 Aug 14(5) 962-970 - Genetics and pollution drive severity of asthma symptoms
NIH Release, August 31, 2018 - She tried diet and exercise. But her high cholesterol came from her genes.
N Brown, American Heart Association, September 4, 2018 - Predictors of Family Enrollment in a Genetic Cascade Screening Program for Familial Hypercholesterolemia.
Silva Pãmela Rodrigues de Souza et al. Arquivos brasileiros de cardiologia 2018 Aug - A genetic programming approach to development of clinical prediction models: A case study in symptomatic cardiovascular disease.
Bannister Christian A et al. PloS one 2018 13(9) e0202685
Pharmacogenomics
- Polygenic risk score analyses of symptoms and treatment response in an antipsychotic-naive first episode of psychosis cohort
ML Santoro et al, Mol Psychiatry, Auust 31, 2018 - [Use of Pharmacogenetic Information for Therapeutic Drug Monitoring of an Antiarrhythmic Drug].
Doki Kosuke et al. Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan 2018 138(9) 1145-1150
Reproductive Health
- Covering Noninvasive Prenatal Screening.
Cohen Arnold et al. Health affairs (Project Hope) 2018 Sep 37(9) 1533 - How should costs and cost-effectiveness be considered in prenatal genetic testing?
Sparks Teresa N et al. Seminars in perinatology 2018 Jul - What should we focus on before preimplantation genetic diagnosis/screening?
Zheng Zhong et al. Archives of medical science : AMS 2018 Aug 14(5) 1119-1124 - Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies.
Yang Jiexia et al. Molecular cytogenetics 2018 1147 - Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform.
Tian Yuan et al. Molecular cytogenetics 2018 1149
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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