Publication Date: Jun 4, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.
Ciaccio Claudia et al. Cerebellum (London, England) 2020 May - Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
Lipska-Zietkiewicz Beata Stefania et al. European journal of human genetics : EJHG 2020 May - Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing.
Mah May Ling et al. International journal of cardiology 2020 May - The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Marshall Christian R et al. Genome medicine 2020 May 12(1) 48 - Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development.
Thompson Rachel et al. The Lancet. Neurology 2020 Jun 19(6) 522-532 - The undiagnosed diseases program: Approach to diagnosis.
Macnamara Ellen F et al. Translational science of rare diseases 2020 Apr 4(3-4) 179-188 - Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous Neven et al. Biomedicines 2020 May 8(5)
Cancer
- Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings.
Kebudi Rejin et al. Pediatric blood & cancer 2020 May e28309 - Next-Generation Sequencing in High-Sensitive Detection of Mutations in Tumors: Challenges, Advances and Applications.
Singh Rajesh R et al. The Journal of molecular diagnostics : JMD 2020 May - Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
Bharucha Puja P et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2020 May 190181 - Utility of Oncotype DX in Male Breast Cancer Patients and Impact on Chemotherapy Administration: A Comparative Study with Female Patients.
Williams Austin D et al. Annals of surgical oncology 2020 May - Question Prompt List to Support Patient-Provider Communication in the Use of the 21-Gene Recurrence Test: Feasibility, Acceptability, and Outcomes.
Jayasekera Jinani et al. JCO oncology practice 2020 May JOP1900661 - Changing practice: moving to a specialist nurse-led service for BRCA gene testing.
Scott Nicola et al. British journal of nursing (Mark Allen Publishing) 2020 May 29(10) S6-S13 - A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer.
Rotunno Melissa et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 May - Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg Thierry et al. European journal of human genetics : EJHG 2020 May - Translation, Adaptation, and Validation of Revised Colorectal Cancer Perception and Screening Instrument among First-Degree Relatives of People with Colorectal Cancer in China.
Bai Yang et al. Asia-Pacific journal of oncology nursing 7(2) 180-189 - Multigene testing in breast cancer: What have we learned from the 21-gene recurrence score assay?
Turashvili Gulisa et al. The breast journal 2020 May - The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.
Gleeson M et al. Gynecologic oncology 2020 May - Utilisation and Determinants of Epidermal Growth Factor Receptor Mutation Testing in Patients with Non-small Cell Lung Cancer in Routine Clinical Practice: A Global Systematic Review.
Thi Aye Myat et al. Targeted oncology 2020 May - Implementation of Universal Tumor Screening of Colorectal Cancer for Detection of Lynch Syndrome at a Hispanic-Rich County Hospital.
Snedden Tyler W et al. JCO oncology practice 2020 May JOP1900508 - ASTRO Radiation Therapy Summary of the ASCO-ASTRO-SSO Guideline on Management of Hereditary Breast Cancer.
Trombetta Mark G et al. Practical radiation oncology 2020 May
Chronic Disease
- Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis.
Scahill Rachael I et al. The Lancet. Neurology 2020 Jun 19(6) 502-512 - Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis.
Knevel Rachel et al. Science translational medicine 2020 May 12(545) - Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
Demir Ferhat et al. Clinical rheumatology 2020 May - Parkinson's Disease: Available Clinical and Promising Omics Tests for Diagnostics, Disease Risk Assessment, and Pharmacotherapy Personalization.
Trifonova Oxana P et al. Diagnostics (Basel, Switzerland) 2020 May 10(5)
Ethical, Legal and Social Issues (ELSI)
- How Can We Not Waste Legacy Genomic Research Data?
Wallace Susan E et al. Frontiers in genetics 2020 11446 - Deliberations About Genomic Research and Biobanks With Citizens of the Chickasaw Nation.
Reedy Justin et al. Frontiers in genetics 2020 11466 - Judging in the genomic era: judges' genetic knowledge, confidence and need for training.
Selita Fatos et al. European journal of human genetics : EJHG 2020 May
General Practice
- From personalised nutrition to precision medicine: the rise of consumer genomics and digital health.
Moore J Bernadette et al. The Proceedings of the Nutrition Society 2020 May 1-11 - Utilization of health information technology among cancer genetic counselors.
Ritchie Jordon B et al. Molecular genetics & genomic medicine 2020 May e1315 - How do geneticists and prospective parents interpret and negotiate an uncertain prenatal genetic result? An analysis of clinical interactions.
Lou Stina et al. Journal of genetic counseling 2020 May - Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients.
Rost Carly et al. Journal of genetic counseling 2020 May - Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR).
Henderson Gail E et al. European journal of human genetics : EJHG 2020 May
Heart, Lung, Blood and Sleep Diseases
- The Impact of Syndromic Genetic Disorders on Medical Management and Mortality in Pediatric Hypertrophic Cardiomyopathy Patients.
Edelson Jonathan B et al. Pediatric cardiology 2020 May - Familial Hypercholesterolemia and the Founder Effect Among Franco-Americans: A Brief History and Call to Action.
Mszar Reed et al. CJC open 2020 May 2(3) 161-167 - A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.
Rucinski Cynthia et al. Journal of the American College of Cardiology 2020 Jun 75(21) 2698-2707 - Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis.
Hu Pengwei et al. Circulation 2020 Jun 141(22) 1742-1759 - Estimating health state utilities associated with a rare disease: Familial chylomicronemia syndrome (FCS).
Matza Louis S et al. Journal of medical economics 2020 Jun 1 - Vitamin D supplementation for sickle cell disease.
Soe Htoo Htoo Kyaw et al. The Cochrane database of systematic reviews 2020 May 5CD010858 - Pediatric Primary Dilated Cardiomyopathy Gene Testing and Variant Reclassification: Does It Matter?
Towbin Jeffrey A et al. Journal of the American Heart Association 2020 May e016910 - Outcomes in patients with familial hypercholesterolaemia undergoing vascular surgical procedures.
Paraskevas Kosmas I et al. Current medical research and opinion 2020 May 1 - Can Genetic Profile of Patients Undergoing Heart Transplantation Alter Clinical Decisions?
Gourzi P et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2020 Apr 39(4S) S232-S233 - You Can't Find What You Aren't Looking For: Over Half of Heart Transplant Patients Have Moderate or Strong Likelihood of Genetic Disease.
Moscarello T G et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2020 Apr 39(4S) S166 - Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
Quiat Daniel et al. Journal of the American Heart Association 2020 May e016195 - The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.
Scotet Virginie et al. Genes 2020 May 11(6) - Left Ventricular Strain and Progression of Hypertrophy in Danon Disease Cardiomyopathy: Insights from a Global Registry.
Ma G S et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2020 Apr 39(4S) S154 - Clinical Utility of Using Next Generation Sequencing in Life Threatening Ventricular Arrhythmia.
Akilzhanova A et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2020 Apr 39(4S) S360
Newborn Screening
- Genetic testing strategies in the newborn.
Carroll Jeanne et al. Journal of perinatology : official journal of the California Perinatal Association 2020 May - Neonatal screening programme for CF: results from the Irish Comparative Outcomes Study (ICOS).
Fitzgerald C et al. Pediatric pulmonology 2020 May - Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia.
Grecsó Nóra et al. PloS one 2020 15(5) e0233724
Pharmacogenomics
- Tailored Antiplatelet Therapy in Patients Undergoing PCI: Is Rapid Bedside Genetic Testing the Answer?
Faxon David P et al. JACC. Basic to translational science 2020 May 5(5) 429-431 - How to Transition from Single Gene Pharmacogenetic Testing to Preemptive Panel-Based Testing: A Tutorial.
Marrero Richard J et al. Clinical pharmacology and therapeutics 2020 May - Determinants of stakeholders' intention to adopt pharmacogenomic.
Mustapa Muhammad Adzran Che et al. The pharmacogenomics journal 2020 May - The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities.
Rafi I et al. Journal of community genetics 2020 May - Using pharmacogenetics to structure individual pain management protocols in total knee arthroplasty.
Hamilton William G et al. The bone & joint journal 2020 Jun 102-B(6_Supple_A) 73-78
Reproductive Health
- Literacy assessment of preimplantation genetic patient education materials exceed national reading levels.
Early Macy L et al. Journal of assisted reproduction and genetics 2020 May - Exome Sequencing and Its Emerging Role in Prenatal Genetic Diagnosis.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2020 May 75(5) 317-320 - The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users.
Zuckerman Shachar et al. Journal of assisted reproduction and genetics 2020 May
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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