Publication Date: Sep 24, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.
Peterlin Borut et al. PloS one 2020 15(9) e0239329 - Developments in Evidence Creation for Treatments of Inborn Errors of Metabolism.
Stockler-Ipsiroglu Sylvia et al. Journal of inherited metabolic disease 2020 Sep - Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.
Chen Zefu et al. Orphanet journal of rare diseases 2020 Sep 15(1) 250 - Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder.
Harris Holly K et al. Pediatrics 2020 Sep - Whole-genome analysis of noncoding genetic variations identifies multi-scale regulatory element perturbations associated with Hirschsprung disease.
Fu Alexander Xi et al. Genome research 2020 Sep - The Importance of Early Genetic Diagnostics of Hearing Loss in Children.
Božanic Urbancic Nina et al. Medicina (Kaunas, Lithuania) 2020 Sep 56(9) - Review: Why screen for severe combined immunodeficiency disease?
Thomas C et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Sep
Cancer Genomics
- A novel prognostic models for identifying the risk of hepatocellular carcinoma based on epithelial-mesenchymal transition-associated genes.
Xiong Chen et al. Bioengineered 2020 Dec 11(1) 1034-1046 - Circulating Tumor DNA Markers for Early Progression on Fulvestrant With or Without Palbociclib in ER+ Advanced Breast Cancer.
O'Leary Ben et al. Journal of the National Cancer Institute 2020 Jun - Prostate biopsy histopathologic features correlate with a commercial gene expression assay's reclassification of patient NCCN risk category.
Greenland Nancy Y et al. The Prostate 2020 Sep - Evaluating the Use of microRNA Blood Tests for Gastric Cancer Screening in a Stratified Population-Level Screening Program: An Early Model-Based Cost-Effectiveness Analysis.
Kapoor Ritika et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 Sep 23(9) 1171-1179 - A multicenter real-world study of tumor-derived DNA from pleural effusion supernatant in genomic profiling of advanced lung cancer.
Jin Shidai et al. Translational lung cancer research 2020 Aug 9(4) 1507-1515 - Genetic profiling of primary and secondary tumors from patients with lung adenocarcinoma and bone metastases reveals targeted therapy options.
Huang Long et al. Molecular medicine (Cambridge, Mass.) 2020 Sep 26(1) 88 - Whole Exome Profiling of NSCLC Among African Americans.
Arauz Rony F et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2020 Sep - Somatic mutations in LRRK2 identify a subset of invasive mammary carcinomas associated with high mutation burden.
Parrilla Castellar Edgardo R et al. The American journal of pathology 2020 Sep - Cost-effectiveness analysis comparing companion diagnostic tests for EGFR, ALK, and ROS1 versus next-generation sequencing (NGS) in advanced adenocarcinoma lung cancer patients.
Schluckebier Luciene et al. BMC cancer 2020 Sep 20(1) 875 - Oncotype DX testing in node-positive breast cancer strongly impacts chemotherapy use at a comprehensive cancer center.
Losk Katya et al. Breast cancer research and treatment 2020 Sep - Racial and ethnic disparities in 21-gene recurrence scores, chemotherapy, and survival among women with hormone receptor-positive, node-negative breast cancer.
Han Yunan et al. Breast cancer research and treatment 2020 Sep - DNA methylation markers for endometrial cancer detection in minimally invasive samples: a systematic review.
den Helder Rianne van et al. Epigenomics 2020 Sep
Hereditary Cancer
- The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
Ryan Neil A J et al. PLoS medicine 2020 Sep 17(9) e1003263 - Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer.
Payne Thomas H et al. Journal of the American Medical Informatics Association : JAMIA 2020 Sep - Comprehension and personal value of negative non-diagnostic genetic panel testing.
Hoell Christin et al. Journal of genetic counseling 2020 Sep - A novel signature of two long non-coding RNAs in BRCA mutant ovarian cancer to predict prognosis and efficiency of chemotherapy.
Pan Yinglian et al. Journal of ovarian research 2020 Sep 13(1) 112 - Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
Maxwell Kara N et al. JCO precision oncology 2020 4 - Applying Risk-Based Follow-Up Strategies on the Dutch Breast Cancer Population: Consequences for Care and Costs.
Draeger Teresa et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 Sep 23(9) 1149-1156 - Short- and long-term outcomes for single-port risk-reducing salpingo-oophorectomy with and without hysterectomy for women at risk for gynecologic cancer.
Carr Caitlin E et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 Sep - Radiation therapy and secondary malignancy in Li-Fraumeni syndrome: A hereditary cancer registry study.
Hendrickson Peter G et al. Cancer medicine 2020 Sep - Value of upper GI endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Ladigan-Badura Swetlana et al. International journal of cancer 2020 Sep - Survival outcomes in men with a positive family history of prostate cancer: a registry based study.
Ang Mann et al. BMC cancer 2020 Sep 20(1) 894
Chronic Disease
- Familial clustering of erosive hand osteoarthritis in a large statewide cohort.
Kazmers Nikolas H et al. Arthritis & rheumatology (Hoboken, N.J.) 2020 Sep - ALS Genetics: Gains, Losses, and Implications for Future Therapies.
Kim Garam et al. Neuron 2020 Sep - Cognitive Dispersion is not Associated with Cerebrospinal Fluid Biomarkers of Alzheimer's Disease: Results from the European Prevention of Alzheimer's Dementia (EPAD) v500.0 Cohort.
Watermeyer Tam et al. Journal of Alzheimer's disease : JAD 2020 Sep - Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe Kushani et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep - Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.
Sodré Luciana Senra de Souza et al. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2020 Sep - Factors associated with progression to inflammatory arthritis in first-degree relatives of individuals with RA following autoantibody positive screening in a non-clinical setting.
Bemis Elizabeth A et al. Annals of the rheumatic diseases 2020 Sep - Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.
Bernard Emilien et al. International journal of molecular sciences 2020 Sep 21(18) - Change in Weight, BMI, and Body Composition in a Population-Based Intervention Versus Genetic-Based Intervention: The NOW Trial.
Horne Justine R et al. Obesity (Silver Spring, Md.) 2020 Aug 28(8) 1419-1427
Ethical, Legal and Social Issues (ELSI)
- Research participant understanding and engagement in an institutional, self-consent biobank model.
Schmanski Andrew et al. Journal of genetic counseling 2020 Sep - Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
Middleton Anna et al. American journal of human genetics 2020 Sep
General Practice
- Application of formative evaluation and teaching feedback in PBL teaching of Medical Genetics.
Wang Tao et al. Yi chuan = Hereditas 2020 Aug 42(8) 810-816 - Perspectives on Precision Medicine in a Tribally Managed Primary Care Setting.
Beans Julie A et al. AJOB empirical bioethics 2020 Sep 1-11 - Genetic polymorphisms in Guillain-Barré Syndrome: A field synopsis and systematic meta-analysis.
Zhao Yating et al. Autoimmunity reviews 2020 Sep 102665 - Barriers and facilitators for cascade testing in genetic conditions: a systematic review.
Srinivasan Swetha et al. European journal of human genetics : EJHG 2020 Sep - Longitudinal trajectories of brain age in young individuals at familial risk of mood disorder.
de Nooij Laura et al. Wellcome open research 2019 4206 - Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience.
Elson Sarah L et al. Molecular genetics & genomic medicine 2020 Sep e1468 - Geographical analysis of the distribution of certified genetic counselors in the United States.
Triebold Malia et al. Journal of genetic counseling 2020 Sep
Heart, Lung, Blood and Sleep Diseases
- Efficacy of Timolol in a Novel Intranasal Thermosensitive Gel for Hereditary Hemorrhagic Telangiectasia-Associated Epistaxis: A Randomized Clinical Trial.
Peterson Andrew M et al. JAMA otolaryngology-- head & neck surgery 2020 Sep - Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges.
Schmidt Erik Berg et al. Heart (British Cardiac Society) 2020 Sep - "Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest.
Isbister Julia C et al. International journal of cardiology 2020 Sep - Administrative data identify sickle cell disease: A critical review of approaches in U.S. health services research.
Grosse Scott D et al. Pediatric blood & cancer 2020 Sep e28703 - Efficacy and safety of PCSK9 monoclonal antibodies: an evidence-based review and update.
Kaddoura Rasha et al. Journal of drug assessment 2020 Aug 9(1) 129-144 - Treatment preferences in people with haemophilia A or caregivers of people with haemophilia A: A discrete choice experiment.
Fifer Simon et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Aug 26 Suppl 530-40 - Investigation of the underlying genes and mechanism of familial hypercholesterolemia through bioinformatics analysis.
Wang Dinghui et al. BMC cardiovascular disorders 2020 Sep 20(1) 419 - Systematic Evaluation of KCNQ1 Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1.
Kashiwa Asami et al. Circulation. Genomic and precision medicine 2020 Sep - Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines.
Andersson Nadine G et al. Human mutation 2020 Sep
Newborn Screening
- Receipt and Timeliness of Newborn Hearing Screening and Diagnostic Services Among Babies Born in 2017 in 9 States.
Deng Xidong et al. Journal of public health management and practice : JPHMP 2020 Sep
Pharmacogenomics
- STrengthening the Reporting Of Pharmacogenetic Studies: Development of the STROPS guideline.
Chaplin Marty et al. PLoS medicine 2020 Sep 17(9) e1003344 - Association of candidate pharmacogenetic markers with platinum-induced ototoxicity: PanCareLIFE dataset.
Langer Thorsten et al. Data in brief 2020 Oct 32106227
Reproductive Health
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.
Conijn Thirsa et al. Journal of genetic counseling 2020 Sep
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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