Publication Date: Apr 30, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
Winder Thomas L et al. Neurology. Genetics 2020 Apr 6(2) e412 - The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.
Asoglu Mehmet Resit et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Apr 1-7 - Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
Bruel Ange-Line et al. Clinical genetics 2020 Apr - Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden Chantal et al. Prenatal diagnosis 2020 Apr - The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley Lisa G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr - Outcome measures in juvenile X-linked retinoschisis: A systematic review.
Grigg John R et al. Eye (London, England) 2020 Apr - Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth Thomas et al. Parkinsonism & related disorders 2020 Apr 7450-56 - Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.
Westland Rik et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Apr - Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Smith Hadley Stevens et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
Cancer
- Population Screening for Inherited Predisposition to Breast and Ovarian Cancer.
Manchanda Ranjit et al. Annual review of genomics and human genetics 2020 Apr - STK11 and KEAP1 mutations as prognostic biomarkers in an observational real-world lung adenocarcinoma cohort.
Papillon-Cavanagh Simon et al. ESMO open 2020 Apr 5(2) - Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction.
Stjepanovic Neda et al. European journal of cancer (Oxford, England : 1990) 2020 Apr 13253-60 - Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication.
Pollard Samantha et al. Health expectations : an international journal of public participation in health care and health policy 2020 Apr - Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients.
van der Giessen Jeanine A M et al. Familial cancer 2020 Apr - Diagnostic Accuracy of MCM5 for the Detection of Recurrence in Non Muscle Invasive Bladder Cancer Follow up: A Blinded, Prospective Cohort, Multicentric European Study.
Roupret Morgan et al. The Journal of urology 2020 Apr 101097JU0000000000001084 - Colorectal cancer screening in Lynch syndrome: indication, techniques and future perspectives.
Perrod Guillaume et al. Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society 2020 Apr - The supplemental value of mammographic screening over breast MRI alone in BRCA2 mutation carriers.
Obdeijn Inge-Marie et al. Breast cancer research and treatment 2020 Apr - Clinically high-risk breast cancer displays markedly discordant molecular risk predictions between the MammaPrint and EndoPredict tests.
Jahn Stephan Wenzel et al. British journal of cancer 2020 Apr - Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors.
Conley Claire C et al. The breast journal 2020 Apr
Chronic Disease
- Precision health: A pragmatic approach to understanding and addressing key factors in autoimmune diseases.
Conrad Karsten et al. Autoimmunity reviews 2020 May 19(5) 102508 - Predicting Cognitive Impairment and Dementia: A Machine Learning Approach.
Aschwanden Damaris et al. Journal of Alzheimer's disease : JAD 2020 Apr - Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches.
Sayed Shomoita et al. Advances in experimental medicine and biology 2020 Apr - A precision medicine framework using artificial intelligence for the identification and confirmation of genomic biomarkers of response to an Alzheimer's disease therapy: Analysis of the blarcamesine (ANAVEX2-73) Phase 2a clinical study.
Hampel Harald et al. Alzheimer's & dementia (New York, N. Y.) 2020 6(1) e12013 - Understanding the Pathogenesis, Therapeutic Targets/Drug Action and Pharmacogenetics of Type 2 Diabetes: Is there a Future for Personalised Medicine?
Engwa Godwill Azeh et al. Endocrine, metabolic & immune disorders drug targets 2020 Apr - Predicting onset of secondary-progressive multiple sclerosis using genetic and non-genetic factors.
Misicka Elina et al. Journal of neurology 2020 Apr - Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp Hanne et al. Annals of the rheumatic diseases 2020 Apr - Accuracy of Biomarker Testing for Neuropathologically Defined Alzheimer Disease in Older Adults With Dementia: A Systematic Review.
Fink Howard A et al. Annals of internal medicine 2020 Apr
Ethical, Legal and Social Issues (ELSI)
- Ethical issues related to research on genome editing in human embryos.
Niemiec Emilia et al. Computational and structural biotechnology journal 2020 18887-896 - The care of patients with Duchenne, Becker and other muscular dystrophies in the COVID-19 pandemic.
Veerapandiyan Aravindhan et al. Muscle & nerve 2020 Apr - Affording Genetic Therapies in the Medicaid Program.
Ballreich Jeromie et al. JAMA pediatrics 2020 Apr
General Practice
- 110 Implementation of Personalized Medicine in a Community Psychiatry Practice.
Umbreit Audrey et al. CNS spectrums 2020 Apr 25(2) 271 - The enduring importance of family health history in the era of genomic medicine and risk assessment.
Haga Susanne B et al. Personalized medicine 2020 Apr - Genetic Counseling Service Delivery Models in the United States: Assessment of changes in use from 2010 to 2017.
Greenberg Samantha E et al. Journal of genetic counseling 2020 Apr - Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care.
Garcia Stephanie J et al. Applied clinical informatics 2020 11(2) 295-302 - Precision Health: The Role of the Social and Behavioral Sciences in Advancing the Vision.
Hekler Eric et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2020 Apr - Challenges in the clinical implementation of precision medicine companion diagnostics.
Keeling Peter et al. Expert review of molecular diagnostics 2020 Apr 1-7 - Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.
White Stephanie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
Heart, Lung, Blood and Sleep Diseases
- Heritable thrombophilia test utilization and cost savings following guideline-based restrictions: An interrupted time series analysis.
Bergstrom Debra et al. Thrombosis research 2020 Apr 19079-85 - Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications.
Aragam Krishna G et al. Circulation research 2020 Apr 126(9) 1159-1177 - A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.
Tada Hayato et al. Journal of clinical lipidology 2020 Mar - Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?
Brandts Julia et al. Current opinion in lipidology 2020 Apr - Multilevel omics for the discovery of biomarkers and therapeutic targets for stroke.
Montaner Joan et al. Nature reviews. Neurology 2020 Apr - Electrophoretic α1-globulin for screening of α1-antitrypsin deficient variants.
Scarlata Simone et al. Clinical chemistry and laboratory medicine 2020 Apr - Genetic epidemiology of beta-thalassemia in the Maldives: 23 years of a beta-thalassemia screening program.
Mustafa Ibrahim et al. Gene 2020 May 741144544 - Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Apr
Pharmacogenomics
- 150 HAM-D6 Outcomes in a Randomized, Controlled Trial Evaluating the Utility of Combinatorial Pharmacogenomics in Depression.
Dunlop Boadie W et al. CNS spectrums 2020 Apr 25(2) 295-296 - 137 CME on Pharmacogenomics Testing Improves Knowledge, Competence, and Confidence Related to Implementing Testing in Practice.
Lucero Katie S et al. CNS spectrums 2020 Apr 25(2) 287 - Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.
van der Wouden Cathelijne H et al. Pharmacogenetics and genomics 2020 Apr - A Pharmacogenetically Guided Acenocoumarol Dosing Algorithm for Chilean Patients: A Discovery Cohort Study.
Roco Angela et al. Frontiers in pharmacology 2020 11325 - Implementation of pharmacogenomics in product information.
Skvrce Nikica Miroševic et al. Pharmacogenomics 2020 Apr - Pharmacogenetic associations and evidence-based pharmacogenomics guidelines: supporting label and off-label use of drug-gene interaction data.
Kisor David F et al. Pharmacogenomics 2020 Apr
Reproductive Health
- Autonomous decisions by couples in reproductive care.
Matar Amal et al. BMC medical ethics 2020 Apr 21(1) 30 - Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers?
Mayeur Anne et al. Reproductive biomedicine online 2020 Feb - Celocentesis for early prenatal diagnosis of hemoglobinopathies.
Makrydimas George et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Apr - The status of preimplantation genetic testing in the UK and USA.
Theobald Rachel et al. Human reproduction (Oxford, England) 2020 Apr
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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