Publication Date: Jul 3, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Trinh Joanne et al. Journal of neurodevelopmental disorders 2019 Jun 11(1) 11 - Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
Yska Hemmo A F et al. Journal of clinical immunology 2019 Jun - Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
Swaggart Kayleigh A et al. The Journal of pediatrics 2019 Jun - Jeffrey's Parents Did Something
by Debra Moffitt, CSL Behring, June 27, 2019 - Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
Beygo Jasmin et al. European journal of human genetics : EJHG 2019 Jun - Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño Monica Y et al. Human mutation 2019 Jun - Contribution of a genetic risk score to clinical prediction of hepatic steatosis in obese children and adolescents.
Zusi Chiara et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019 Jun - Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Sanford Erica F et al. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2019 Jun
Cancer
- Complications and Economic Burden Associated With Obtaining Tissue for Diagnosis and Molecular Analysis in Patients With Non-Small-Cell Lung Cancer in the United States.
Kelly Ronan J et al. Journal of oncology practice 2019 Jun JOP1800762 - Familial pancreatic cancer risk: a population-based study in Utah.
Kohli Divyanshoo R et al. Journal of gastroenterology 2019 Jun - Cost Effectiveness of Multigene Panel Sequencing for Patients With Advanced Non-Small-Cell Lung Cancer.
Steuten Lotte et al. JCO clinical cancer informatics 2019 Jun 31-10 - BRCA germline mutation test for all woman with ovarian cancer?
Paradiso A V et al. BMC cancer 2019 Jun 19(1) 641 - Genetic Testing for Breast Cancer Susceptibility Should Be Offered before Unilateral Abdominally Based Free Flap Breast Reconstruction.
Dayan Erez et al. Plastic and reconstructive surgery 2019 Jul 144(1) 12-20 - Duality of purpose: Participant and parent understanding of the purpose of genomic tumor profiling research among children and young adults with solid tumors.
Marron Jonathan M et al. JCO precision oncology 2019 3 - Prospective analysis of 895 patients on a UK Genomics Review Board.
Moore David Allan et al. ESMO open 2019 4(2) e000469 - Energy balance related lifestyle factors and risk of endometrial and colorectal cancer among individuals with lynch syndrome: a systematic review.
Coletta Adriana M et al. Familial cancer 2019 Jun - Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?
Copur Mehmet Sitki et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Jun JCO1900064 - Awareness and acceptability of population-based screening for pathogenic BRCA variants: Do race and ethnicity matter?
Rubinsak Lisa A et al. Gynecologic oncology 2019 Jun - Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
Beck Anna C et al. American journal of surgery 2019 Jun
Chronic Disease
- Screening for monogenic diabetes in primary care.
Baldacchino Ian et al. Primary care diabetes 2019 Jun - Oral insulin therapy for primary prevention of type 1 diabetes in infants with high genetic risk: the GPPAD-POInT (global platform for the prevention of autoimmune diabetes primary oral insulin trial) study protocol.
Ziegler Anette-Gabriele et al. BMJ open 2019 Jun 9(6) e028578 - HER2-targeted treatment for older patients with breast cancer: An expert position paper from the International Society of Geriatric Oncology.
Brain Etienne et al. Journal of geriatric oncology 2019 Jun - Predicting the Risk of Huntington's Disease with Multiple Longitudinal Biomarkers.
Li Fan et al. Journal of Huntington's disease 2019 Jun
Ethical, Legal and Social Issues (ELSI)
- Map of ethical conflicts of the CRISPR-Cas9 gene edition technique.
Lorenzo David et al. Medicina clinica 2019 Jun - Genetic testing and insurance in Australia.
Otlowski Margaret et al. Australian journal of general practice 2019 Mar 48(3) 96-99 - Genomic databases, subpoenas, and Certificates of Confidentiality.
Wolf Leslie E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun
General Practice
- Comparison of Nutrigenomics Technology Interface Tools for Consumers and Health Professionals: A Sequential Explanatory Mixed Methods Investigation.
Araujo Almeida Vanessa et al. Journal of medical Internet research 2019 Jun 21(6) e12580 - Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users.
Martorell Lourdes et al. Molecular genetics & genomic medicine 2019 Jun e830 - Patient-centered care and genomic medicine: A qualitative provider study in the military health system.
Hellwig Lydia D et al. Journal of genetic counseling 2019 Jun
Heart, Lung, Blood and Sleep Diseases
- Selective screening for familial hypercholesterolemia in Austrian children - first year results.
Kreissl Alexandra et al. BMC pediatrics 2019 Jun 19(1) 208 - Pathophysiology, diagnosis and management of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on peripartum cardiomyopathy.
Bauersachs Johann et al. European journal of heart failure 2019 Jun - The prevalence and related factors of familial hypercholesterolemia in rural population of China using Chinese modified Dutch Lipid Clinic Network definition.
Wang Yan et al. BMC public health 2019 Jun 19(1) 837 - From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies.
Reza Nosheen et al. Current heart failure reports 2019 Jun - Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.
Kim Hee Jung et al. Annals of laboratory medicine 2019 Nov 39(6) 545-551 - Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia.
Rets Anton et al. International journal of laboratory hematology 2019 May 41 Suppl 195-101 - Cardiovascular genomics and sudden cardiac death in the young.
Isbister Julia et al. Australian journal of general practice 2019 Mar 48(3) 90-95 - Molecular diagnostic workflow, clinical interpretation of sequence variants and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Fusco Carmela et al. Human mutation 2019 Jun
Newborn Screening
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159
Pharmacogenomics
- Pharmacogenomics courses in pharmacy school curricula.
Haga Susanne B et al. Pharmacogenomics 2019 Jun 20(9) 625-630 - Pharmacogenomics education in medical and pharmacy schools: conclusions of a global survey.
Karas Kuželicki Nataša et al. Pharmacogenomics 2019 Jun 20(9) 643-657 - Pharmacogenomics in general practice: The time has come.
Polasek Thomas M et al. Australian journal of general practice 2019 Mar 48(3) 100-105
Reproductive Health
- Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.
Emery Jon et al. Australian journal of general practice 2019 Mar 48(3) 106-110 - The value of diagnostic testing for parents of children with rare genetic diseases.
Marshall Deborah A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Women's choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England.
Sacco Adalina et al. Archives of disease in childhood 2019 Jun
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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