Publication Date: Dec 20, 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
- Estimating the burden and economic impact of pediatric genetic disease
N Gonzaludo et al, Genetics in Medicine, December 19, 2018 - A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn Martin et al. European journal of human genetics : EJHG 2018 Dec - The increasing challenge of genetic counseling for cystic fibrosis.
Foil Kimberly E et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Dec - Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars Francesca M et al. Epilepsia 2018 Dec - Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.
Lee Jessica J Y et al. Journal of the American Medical Informatics Association : JAMIA 2018 Dec - Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
Du Xiujuan et al. Frontiers in genetics 2018 9594 - Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.
Johnson Stephanie R et al. Diabetes care 2018 Dec - Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews Allison M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret Guillaume et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jan 40(1) 121-129 - Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States.
Nalysnyk Luba et al. Journal of managed care & specialty pharmacy 2018 Oct 24(10) 1002-1008 - Recombinant growth hormone therapy for cystic fibrosis in children and young adults.
Thaker Vidhu et al. The Cochrane database of systematic reviews 2018 Dec 12CD008901 - Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.
Anderson Kailyn et al. Congenital heart disease 2018 Dec - Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof Alexander et al. Molecular genetics & genomic medicine 2018 Dec - Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
An Joon-Yong et al. Science (New York, N.Y.) 2018 362(6420) - Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
N Longo et al, Genetics in Medicine, December 14, 2018 - Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
MA Corbett et al,. NPJ Genomic Medicine, Decemeber 2018
Cancer
- Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
N Mavaddat et al, AJHG, December 13, 2018 - Disseminating universal genetic testing to a diverse, indigent patient population at a county hospital gynecologic oncology clinic.
Bednar Erica M et al. Gynecologic oncology 2018 Dec - An 11-gene-based prognostic signature for uveal melanoma metastasis based on gene expression and DNA methylation profile.
Li Yang et al. Journal of cellular biochemistry 2018 Dec - Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat Nasim et al. American journal of human genetics 2018 Dec - Legacies and Relationships: Diverse Social Networks and BRCA1/2 Risk Management Decisions and Actions.
Ersig Anne L et al. Journal of family nursing 2018 Dec 1074840718815844 - Database of evidence for precision oncology portal.
Sun Sam Q et al. Bioinformatics (Oxford, England) 2018 Dec 34(24) 4315-4317 - Implementing a comprehensive translational oncology platform: from molecular testing to actionability.
Mitri Zahi I et al. Journal of translational medicine 2018 Dec 16(1) 358 - Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Seifert Bryce A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
Beitsch Peter D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Dec JCO1801631 - Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome - a Pilot Study Using New Stratification Criteria.
Kašubová Ivana et al. Acta medica (Hradec Kralove) 2018 61(3) 98-102 - Hereditary breast cancer; Genetic penetrance and current status with BRCA.
Mahdavi Morteza et al. Journal of cellular physiology 2018 Dec - Oncotype DX ® Recurrence Score as a Predictor of Response to Neoadjuvant Chemotherapy.
Pease Alison M et al. Annals of surgical oncology 2018 Dec - Cancer molecular markers: A guide to cancer detection and management.
Nair Meera et al. Seminars in cancer biology 2018 52(Pt 1) 39-55 - A cost analysis of upfront DPYD genotype-guided dose individualisation in fluoropyrimidine-based anticancer therapy.
Henricks Linda M et al. European journal of cancer (Oxford, England : 1990) 2018 Dec 10760-67 - Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge.
Machirori Mavis et al. European journal of medical genetics 2018 Dec
Chronic Disease
- Clinical and genetic characteristics of late-onset Huntington's disease.
Oosterloo Mayke et al. Parkinsonism & related disorders 2018 Nov - Direct HLA Genetic Comparisons Identify Highly Matched Unrelated Donor/Recipient Pairs with Improved Transplant Outcome.
Vazirabad Ibrahim et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018 Dec - More Evidence Needed Regarding the Utility of Genetic Testing for Alzheimer Dementia.
Riarh Amrit et al. American family physician 2018 Dec 98(12) 708 - A National Survey of Transplant Surgeons and Nephrologists on Implementing Apolipoprotein L1 ( APOL1) Genetic Testing Into Clinical Practice.
Gordon Elisa J et al. Progress in transplantation (Aliso Viejo, Calif.) 2018 Dec 1526924818817048 - Utility and implications of exome sequencing in early-onset Parkinson's disease.
Trinh Joanne et al. Movement disorders : official journal of the Movement Disorder Society 2018 Dec - Education can reduce health differences related to genetic risk of obesity.
Barcellos Silvia H et al. Proceedings of the National Academy of Sciences of the United States of America 2018 115(42) E9765-E9772 - New molecular diagnostic trends and biomarkers for Amyotrophic Lateral Sclerosis.
Pampalakis Georgios et al. Human mutation 2018 Dec - Parkinson's Disease in the Era of Personalised Medicine: One Size Does Not Fit All.
Ryden Lauren E et al. Drugs & aging 2018 Dec
Ethical, Legal and Social Issues (ELSI)
- Overcoming bioethical, legal, and hereditary barriers to mitochondrial replacement therapy in the USA.
Pompei Marybeth et al. Journal of assisted reproduction and genetics 2018 Dec - Ethical issues in susceptibility genetic testing for late-onset neurodegenerative diseases.
Manrique de Lara Amaranta et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018 Dec - The ethics of global psychiatric genomics: Multilayered challenges to integrating genomics in global mental health and disability-A position paper of the Oxford Global Initiative in Neuropsychiatric GenEthics (NeuroGenE).
Kong Camillia et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2018 Dec
General Practice
- What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics.
Nurnberger John I et al. The Journal of clinical psychiatry 2018 Nov 80(1) - Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication.
Joseph Galen et al. European journal of medical genetics 2018 Dec - How Online Family History Tool Design and Message Content Impact User Perceptions: An Examination of Family HealthLink.
Thomas Sarah N et al. Public health genomics 2018 Dec 1-14
Heart, Lung, Blood and Sleep Diseases
- Impact of genetic variation on pravastatin systemic exposure in pediatric hypercholesterolemia.
Wagner Jonathan B et al. Clinical pharmacology and therapeutics 2018 Dec - Recurrence of hereditary hemorrhagic telangiectasia after liver transplantation: clinical implications and physiopathological insights.
Dumortier Jérôme et al. Hepatology (Baltimore, Md.) 2018 Dec - Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective.
Tang Yingying et al. Forensic science, medicine, and pathology 2018 Dec - To test or not: occurrence of sickle cell trait and assessment of the awareness toward its screening among patients attending Magale Health Center IV, Namisindwa District, Eastern Uganda.
Mandu Keneth et al. Journal of blood medicine 2018 9219-225 - How well can familial hypercholesterolemia be identified in an electronic health record database?
Mues Katherine E et al. Clinical epidemiology 2018 101667-1677 - Family Relationships Associated With Communication and Testing for Inherited Cardiac Conditions.
Shah Lisa L et al. Western journal of nursing research 2018 Dec 193945918817039 - Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Cao Ye-Xuan et al. Journal of translational medicine 2018 Dec 16(1) 345 - Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.
Brunham Liam R et al. The Canadian journal of cardiology 2018 Dec 34(12) 1553-1563 - Vascular endothelial growth factor gene transfer therapy for coronary artery disease: A systematic review and meta-analysis.
Yuan Rong et al. Cardiovascular therapeutics 2018 Oct 36(5) e12461 - Clinical and genetic profile of congenital long QT syndrome in Hong Kong: a 20-year experience in paediatrics.
Kwok S Y et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Dec
Newborn Screening
- Parental awareness of newborn bloodspot screening in Ireland.
Fitzpatrick Patricia et al. Irish journal of medical science 2018 Dec - Fucosyltransferase Gene Polymorphisms and Lewisb-Negative Status Are Frequent in Swedish Newborns, With Implications for Infectious Disease Susceptibility and Personalized Medicine.
King Jovanka R et al. Journal of the Pediatric Infectious Diseases Society 2018 Dec - Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Langan Thomas J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.
Tan Vivienne J et al. Frontiers in genetics 2018 9582 - Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.
Mahmoud Ranim et al. American journal of medical genetics. Part A 2018 Dec
Pharmacogenomics
- Evaluation of tacrolimus-related CYP3A5 genotyping in China: Results from the First External Quality Assessment Exercise.
Lin Guigao et al. Journal of clinical laboratory analysis 2018 Oct 32(8) e22563 - Does obtaining CYP2D6 and CYP2C19 pharmacogenetic testing predict antidepressant response or adverse drug reactions?
Solomon Haley V et al. Psychiatry research 2018 Dec 271604-613 - Pharmacogenetics biomarkers predictive of drug pharmacodynamics as an additional tool to therapeutic drug monitoring.
Haufroid Vincent et al. Therapeutic drug monitoring 2018 Dec - Pharmacogenetics and prediction of adverse events in prescription opioid use disorder patients.
Muriel Javier et al. Basic & clinical pharmacology & toxicology 2018 Oct - Assessment of provider-perceived barriers to clinical use of pharmacogenomics during participation in an institutional implementation study.
Borden Brittany A et al. Pharmacogenetics and genomics 2019 Feb 29(2) 31-38 - Analysis of comprehensive pharmacogenomic profiling to impact in-hospital prescribing.
Lee Yee Ming et al. Pharmacogenetics and genomics 2019 Feb 29(2) 23-30
Reproductive Health
- 27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Piña-Aguilar Raul E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Effectiveness and costs of non-invasive foetal RHD genotyping in rhesus-D negative mothers: a French multicentric two-arm study of 850 women.
Darlington Meryl et al. BMC pregnancy and childbirth 2018 Dec 18(1) 496
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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