Publication Date: Sep 2, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia Francesca et al. Translational vision science & technology 2020 Jul 9(8) 30 - Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Shah Abid Ali et al. European journal of medical genetics 2020 Aug 104041 - Long-term screening for primary mitochondrial DNA variants associated with Leber Hereditary Optic Neuropathy: incidence, penetrance and clinical features.
Marotta Rosetta et al. Mitochondrion 2020 Aug - Cognitive functioning and pain interference mediate pain predictive effects on health-related quality of life in pediatric patients with Neurofibromatosis Type 1.
Varni James W et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 Aug - An Integrative Review of Current Practice Models and/or Process of Family-Centered Early Intervention for Children Who Are Deaf or Hard of Hearing.
Maluleke Ntsako P et al. Family & community health 2020 Aug - Genetic testing for inherited retinal degenerations: Triumphs and tribulations.
Branham Kari et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
Cancer Genomics
- SOX1 Promoter Hypermethylation as a Potential Biomarker for High-Grade Squamous Intraepithelial Neoplasia Lesion and Cervical Carcinoma: A Meta-Analysis With Trial Sequential Analysis.
Huang Jin et al. Frontiers in genetics 2020 11633 - DICER1 Mutations in the Era of Expanding Integrative Clinical Sequencing in Pediatric Oncology.
Bailey Kelly M et al. JCO precision oncology 2019 3 - Clinical Utility of Gene Expression Classifiers in Men With Newly Diagnosed Prostate Cancer.
Hu Jonathan C et al. JCO precision oncology 2018 2 - Integration of Germline Pharmacogenetics Into a Tumor Sequencing Program.
Hertz Daniel L et al. JCO precision oncology 2018 2 - Cost-effectiveness analysis comparing "PARP inhibitors-for-all" to the biomarker-directed use of PARP inhibitor maintenance therapy for newly diagnosed advanced stage ovarian cancer.
Gonzalez Rafael et al. Gynecologic oncology 2020 Aug - Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: A report from the ESMO Precision Medicine Working Group.
Mosele F et al. Annals of oncology : official journal of the European Society for Medical Oncology 2020 Jul - Clinical implications of HER2 mRNA expression and intrinsic subtype in refractory HER2-positive metastatic breast cancer treated with pan-HER inhibitor, poziotinib.
Kim Ji-Yeon et al. Breast cancer research and treatment 2020 Aug - Incorporating MRI and biomarkers in active surveillance protocols - results from the prospective Stockholm3 Active Surveillance trial (STHLM3AS).
Olsson Henrik et al. Journal of the National Cancer Institute 2020 Aug - Oncology workforce skills and competencies required for molecular medicine.
Groves Emma et al. European journal of hospital pharmacy : science and practice 2020 Sep 27(5) 249-250
Hereditary Cancer
- Upper endoscopy surveillance in Lynch syndrome detects gastric and duodenal adenocarcinomas.
Kumar Shria et al. Cancer prevention research (Philadelphia, Pa.) 2020 Aug - Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
Llach Joan et al. Cancers 2020 Aug 12(9) - Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices.
Watson Catherine H et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 Aug - Germline DNMT3A mutation in familial acute myeloid leukaemia.
DiNardo Courtney D et al. Epigenetics 2020 Aug 1-10 - Frequency and Association Of GSTM1 and GSTT1 Gene Polymorphisms with Survival in Breast Cancer Patients.
Tangkhuenkhan Phakarat et al. Asian Pacific journal of cancer prevention : APJCP 2020 Aug 21(8) 2251-2257 - Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History.
van den Broek Jeroen J et al. Journal of the National Cancer Institute 2020 Aug - Informing models of cancer genetic care in the era of multigene panel testing with patient-led recommendations.
Underhill-Blazey Meghan et al. Journal of genetic counseling 2020 Aug - Screening women at high risk for breast cancer: one program fits all? : Subgroup analysis of a large population high risk breast screening program.
Hermann Naama et al. Breast cancer research and treatment 2020 Aug - Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population.
Yamamoto Azusa et al. Japanese journal of clinical oncology 2020 Aug
Chronic Disease
- Genetics of smoking behavior in American Indians.
Henderson Jeffrey A et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Aug - Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches.
Martínez-Velasco Antonieta et al. Ophthalmic genetics 2020 Aug 1-9 - Genome-wide association study and meta-analysis on alcohol-related liver cirrhosis identifies novel genetic risk factors.
Schwantes-An Tae-Hwi et al. Hepatology (Baltimore, Md.) 2020 Aug - Development of Proteomic Prediction Models for Transition to Psychotic Disorder in the Clinical High-Risk State and Psychotic Experiences in Adolescence.
Mongan David et al. JAMA psychiatry 2020 Aug - A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
Ibarra Moreno Carlos A et al. British journal of anaesthesia 2020 Aug - Genetic variants and functional pathways associated with resilience to Alzheimer's disease.
Dumitrescu Logan et al. Brain : a journal of neurology 2020 Aug 143(8) 2561-2575 - Polygenic risk for anxiety influences anxiety comorbidity and suicidal behavior in bipolar disorder.
Lopes Fabiana L et al. Translational psychiatry 2020 Aug 10(1) 298
Ethical, Legal and Social Issues (ELSI)
- Survey of palliative care providers' needs, perceived roles, and ethical concerns about addressing cancer family history at the end of life.
Cléophat Jude E et al. Palliative & supportive care 2020 Aug 1-6 - Improving Community Advisory Board Engagement in Precision Medicine Research to Reduce Health Disparities.
Connors Erin et al. Journal of health disparities research and practice 2019 12(6) 80-94 - Responsible Translational Pathways for Germline Gene Editing?
Cwik Bryan et al. Current stem cell reports 2020 Aug 1-8 - Ethical issues raised by intergenerational monitoring in clinical trials of germline gene modification.
Yeager Austen et al. Journal of medical ethics 2020 Aug - Public engagement with genomic medicine: a summary of town hall discussions.
Etchegary Holly et al. Journal of community genetics 2020 Aug
General Practice
- Editorial: Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches.
Metcalfe Sylvia A et al. Frontiers in genetics 2020 11696 - Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
Gunning Adam C et al. Journal of medical genetics 2020 Aug - Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella Aida M et al. European journal of human genetics : EJHG 2020 Aug - Randomized controlled trial on the effectiveness of web-based Genomics Nursing Education Intervention for undergraduate nursing students: a study protocol.
Dumo Anndra Margareth et al. Journal of advanced nursing 2020 Aug
Heart, Lung, Blood and Sleep Diseases
- Cystic fibrosis newborn screening: the importance of bloodspot sample quality.
Doull Iolo et al. Archives of disease in childhood 2020 Aug - Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease.
Aryan Zahra et al. Circulation. Genomic and precision medicine 2020 Aug - High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.
Lee Joon Hee et al. PloS one 2020 15(8) e0238079 - Very high-risk familial hypercholesterolaemia patients in real life: The remaining gap in achieving the current LDL-C targets despite the use of PCSK9 inhibitors.
Rallidis Loukianos S et al. Atherosclerosis 2020 Jul - United States Pulmonary Hypertension Scientific Registry (USPHSR): Baseline Characteristics.
Badlam Jessica B et al. Chest 2020 Aug - An Innovative Multilevel Test for Hemoglobinopathies: TGA/Chemometrics Simultaneously Identifies and Classifies Sickle Cell Disease From Thalassemia.
Risoluti Roberta et al. Frontiers in molecular biosciences 2020 7141 - Apolipoprotein A2 Isoforms in Relation to the Risk of Myocardial Infarction: A Nested Case-Control Analysis in the JPHC Study.
Kihara Tomomi et al. Journal of atherosclerosis and thrombosis 2020 Aug - First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice.
Massardier Claire et al. Pediatric cardiology 2020 Aug - Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors.
Eckerström Carl et al. Annals of hematology 2020 Aug - The Use of Risk Enhancing Factors to Personalize ASCVD Risk Assessment: Evidence and Recommendations from the 2018 AHA/ACC Multi-society Cholesterol Guidelines.
Agarwala Anandita et al. Current cardiovascular risk reports 2019 13(7)
Pharmacogenomics
- CYP2D6 Expression in Veterans Experiencing Opioid Overdose: A Postmortem Review.
Boyle Julia et al. Pharmacogenomics and personalized medicine 2020 13289-293 - Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review.
B Tata Emiliene et al. Pharmaceutics 2020 Aug 12(9) - Pharmacogenomics of COVID-19 therapies.
Takahashi Takuto et al. NPJ genomic medicine 2020 535 - Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children's Genomic Medicine Consortium.
Gregornik David et al. The pharmacogenomics journal 2020 Aug - Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy.
Roosan Don et al. The pharmacogenomics journal 2020 Aug - Pharmacogenetic studies of thiopurine methyltransferase genotype-phenotype concordance and effect of methotrexate on thiopurine metabolism.
Zimdahl Kahlin Anna et al. Basic & clinical pharmacology & toxicology 2020 Aug
Reproductive Health
- A systematic review exploring the patient decision-making factors and attitudes towards pre-implantation genetic testing for aneuploidy and gender selection.
Bracewell-Milnes Timothy et al. Acta obstetricia et gynecologica Scandinavica 2020 Aug - Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.
Kucharik Marcel et al. PloS one 2020 15(8) e0238245 - De novo mutations in idiopathic male infertility - a pilot study.
Hodžic A et al. Andrology 2020 Aug
Event
- International Commission on the Clinical Use of Human Germline Genome Editing - Report Release Webinar
Sep 3, 2020 - 10:15AM - 11:15AM ET
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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