Publication Date: Dec 19, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Anderson Daniela R et al. Molecular genetics and metabolism 2019 Nov - Implications of genetic diagnostics in epilepsy surgery candidates: A single-center cohort study.
Sanders Maurits W C B et al. Epilepsia open 2019 Dec 4(4) 609-617 - Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
Paz-Y-Miño César et al. Molecular genetics & genomic medicine 2019 Dec e1087 - A structured genetics rotation for pediatric residents: an important educational opportunity.
Forsyth RaeLynn et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec - Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet Maude et al. Orphanet journal of rare diseases 2019 Dec 14(1) 288 - Emery-Dreifuss Muscular Dystrophy.
Heller Scott A et al. Muscle & nerve 2019 Dec - NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Topa Alexandra et al. American journal of medical genetics. Part A 2019 Dec - Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman Omamah A et al. European journal of human genetics : EJHG 2019 Dec
Cancer
- Utility of incorporating next-generation sequencing (NGS) in an Asian non-small cell lung cancer (NSCLC) population: Incremental yield of actionable alterations and cost-effectiveness analysis.
Tan Aaron C et al. Lung cancer (Amsterdam, Netherlands) 2019 Nov 139207-215 - Benefit of Targeted DNA Sequencing in Advanced Non-Small-Cell Lung Cancer Patients Without EGFR and ALK Alterations on Conventional Tests.
Byeon Seonggyu et al. Clinical lung cancer 2019 Nov - Clinical Impact of Next-generation Sequencing in Pediatric Neuro-Oncology Patients: A Single-institutional Experience.
Barsan Valentin et al. Cureus 2019 Dec 11(12) e6281 - Germline genetic testing for breast cancer: which patients? What genes?
Domchek Susan M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec - CDH1 on multigene panel testing: Look before you leap.
Katona Bryson W et al. Journal of the National Cancer Institute 2019 Dec - Patient-Reported Outcome Measures may optimize shared decision-making for cancer risk management in BRCA mutation carriers.
van Egdom L S E et al. Breast cancer (Tokyo, Japan) 2019 Dec - Extent of Pedigree Required to Screen for and Diagnose Hereditary Nonpolyposis Colorectal Cancer: Comparison of Simplified and Extended Pedigrees.
Heo Yoonjung et al. Diseases of the colon and rectum 2019 Dec - Incident colorectal cancer in Lynch syndrome is usually not preceded by compromised quality of colonoscopy.
Lappalainen Jutta et al. Scandinavian journal of gastroenterology 2019 Dec 1-8 - How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis.
Brédart Anne et al. Psycho-oncology 2019 Dec - Utility of Genomic Testing after Renal Biopsy.
Murray Susan L et al. American journal of nephrology 2019 Dec 51(1) 43-53 - Evaluation of BRAF, RAS, RET/PTC, and PAX8/PPARg alterations in different Bethesda diagnostic categories: A multicentric prospective study on the validity of the 7-gene panel test in 1172 thyroid FNAs deriving from different hospitals in South Italy.
Bellevicine Claudio et al. Cancer cytopathology 2019 Dec
Chronic Disease
- Integrating omics for a better understanding of Inflammatory Bowel Disease: a step towards personalized medicine.
Kumar Manoj et al. Journal of translational medicine 2019 Dec 17(1) 419 - A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.
Sztromwasser Pawel et al. Pediatric diabetes 2019 Dec - Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome.
Landini Samuela et al. Clinical journal of the American Society of Nephrology : CJASN 2019 Dec - Variation of ApoL1 Testing Practices for Living Kidney Donors.
McIntosh Tristan et al. Progress in transplantation (Aliso Viejo, Calif.) 2019 Dec 1526924819892917
Ethical, Legal and Social Issues (ELSI)
- Psychological factors that determine people's willingness-to-share genetic data for research.
Bearth Angela et al. Clinical genetics 2019 Dec - Contentious ethical issues in community genetics: let's talk about them.
Schmidtke Jörg et al. Journal of community genetics 2019 Dec
General Practice
- Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.
Carroll June C et al. Frontiers in genetics 2019 101189 - Designing and Evaluating a Digital Family Health History Tool for Spanish Speakers.
Cerda Diez Maria et al. International journal of environmental research and public health 2019 Dec 16(24) - Opportunities and challenges of integrating genetics education about human diversity into public health nurses' responsibilities in Japan.
Goda Hiromi et al. BMC nursing 2019 1865
Heart, Lung, Blood and Sleep Diseases
- The development and first results of a health-related outcomes set in familial hypercholesterolemia (FH) patients: Knowledge is health.
Mulder Janneke W C M et al. Atherosclerosis 2019 Nov 29311-17 - Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies.
Wald David S et al. Atherosclerosis 2019 Nov 29357-61 - International Differences in Outpatient Pain Management: A Survey of Sickle Cell Disease.
El-Amin Nadirah et al. Journal of clinical medicine 2019 Dec 8(12) - Screening for atherosclerosis among low risk individuals with family history of coronary heart disease.
Daly Ryan et al. Journal of cardiovascular computed tomography 2019 Sep - Use of an automated pyrosequencing technique for confirmation of sickle cell disease.
de Martino Camila Cruz et al. PloS one 2019 14(12) e0216020 - Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia.
McGowan Mary P et al. Journal of the American Heart Association 2019 Dec 8(24) e013225
Newborn Screening
- Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect and evaluate from newborn screening?
Haijes H A et al. Journal of inherited metabolic disease 2019 Dec - Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience.
Kommalur Anitha et al. Journal of tropical pediatrics 2019 Dec
Pharmacogenomics
- Basic Concepts in Genetics and Pharmacogenomics for Pharmacists.
Orrico Kathleen B et al. Drug target insights 2019 131177392819886875 - Pharmacogenomics And Hypertension: Current Insights.
Oliveira-Paula Gustavo H et al. Pharmacogenomics and personalized medicine 2019 12341-359 - Pharmacogenomic phase transition from personalized medicine to patient-centric customized delivery.
Radhakrishnan Arun et al. The pharmacogenomics journal 2019 Dec - Results of the CYP-GUIDES randomized controlled trial: Total cohort and primary endpoints.
Ruaño Gualberto et al. Contemporary clinical trials 2019 Dec 105910
Reproductive Health
- Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing - a systematic review and meta-analysis.
Geppert Julia et al. Prenatal diagnosis 2019 Dec - Expanded universal carrier screening and its implementation within a publicly funded healthcare service.
Rowe Charlotte A et al. Journal of community genetics 2019 Dec - Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.
Chamayou Sandrine et al. Journal of assisted reproduction and genetics 2019 Dec - Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.
Liu Jialiu et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Dec - Does preimplantation genetic testing for aneuploidy really improve IVF outcomes in advanced maternal age patients without compromising cumulative live-birth rate?
Orvieto Raoul et al. Journal of assisted reproduction and genetics 2019 Dec - Fetal fraction and noninvasive prenatal testing: What clinicians need to know.
Hui Lisa et al. Prenatal diagnosis 2019 Dec
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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