Publication Date: May 14, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review.
Mone F et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 May - Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon Narissara et al. Frontiers in immunology 2020 11614 - Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
Painous C et al. European journal of neurology 2020 May - Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.
Kosaki Rika et al. American journal of medical genetics. Part A 2020 May - Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience.
Miller Cecelia R et al. Cold Spring Harbor molecular case studies 2020 May - An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin Hanan E et al. Human genetics 2020 May - Assessment of the Clinical Utility of Plasma Metagenomic Next-Generation Sequencing in a Pediatric Hospital Population.
Lee Rose A et al. Journal of clinical microbiology 2020 May
Cancer
- Adequacy evaluation of the annual colonoscopic surveillance and individual difference of disease phenotypes in Lynch syndrome.
Taniguchi Fumitaka et al. Japanese journal of clinical oncology 2020 May - Use of Polygenic Risk Scores to Select Screening Intervals After Negative Findings From Colonoscopy.
Guo Feng et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 May - The predictive value of PRDM2 in solid tumor: a systematic review and meta-analysis.
Tanadi Caroline et al. PeerJ 2020 8e8826 - Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
Tennen Ruth I et al. Scientific reports 2020 May 10(1) 7669 - Healthcare providers' adherence to breast cancer guidelines in Europe: a systematic literature review.
Niño de Guzmán Ena et al. Breast cancer research and treatment 2020 May - BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic.
Minucci Angelo et al. Molecular biology reports 2020 May - Development and validation of a five-immune gene prognostic risk model in colon cancer.
Chen Haitao et al. BMC cancer 2020 May 20(1) 395 - Comparison of two Lynch screening strategies in endometrial cancer in a California health system.
Lentz Scott E et al. Gynecologic oncology 2020 May - The concordance of treatment decision guided by OncotypeDX and the PREDICT tool in real-world early-stage breast cancer.
Goldstein Daniel A et al. Cancer medicine 2020 May - Evaluating the effects of a risk-adapted screening program for familial colorectal cancer in individuals between 25 and 50 years of age: study protocol for the prospective population-based intervention study FARKOR.
Hoffmann Sabine et al. BMC gastroenterology 2020 May 20(1) 131
Ethical, Legal and Social Issues (ELSI)
- Shortened consent forms for genome-wide sequencing: Parent and provider perspectives.
Hitchcock Emma C et al. Molecular genetics & genomic medicine 2020 May e1254 - Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health.
Shaibi Gabriel Q et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May - The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments.
Goranitis Ilias et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May
General Practice
- Feasibility, face validity, and sensitivity of a web-based simulation tool for assessing genetic counseling communication.
Setzer Michael R et al. Journal of genetic counseling 2020 May - Longitudinal follow-up after telephone disclosure in the randomized COGENT study.
Kilbride Madison K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May - Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing-Based Tests: Challenges, Opportunities, and Potential Solutions.
Deverka Patricia A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 540-550 - Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.
Mackay Zoë P et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 559-565 - Addressing Challenges of Economic Evaluation in Precision Medicine Using Dynamic Simulation Modeling.
Marshall Deborah A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 566-573 - Expectations and psychological issues before genetic counseling: analysis of distress determinant factors.
Ballatore Zelmira et al. Hereditary cancer in clinical practice 2020 1810 - Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.
Kochan David C et al. NPJ genomic medicine 2020 519 - Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.
Babb de Villiers Chantal et al. Journal of medical genetics 2020 May - Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature.
Meiser Bettina et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2020 May - Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice.
Singh Aditi P et al. Cancers 2020 May 12(5)
Heart, Lung, Blood and Sleep Diseases
- Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.
Dikilitas Ozan et al. American journal of human genetics 2020 May 106(5) 707-716 - Genetics of dilated cardiomyopathy: practical implications for heart failure management.
Rosenbaum Andrew N et al. Nature reviews. Cardiology 2020 17(5) 286-297 - FAMILIAL HYPERCHOLESTEROLAEMIA - A DIAGNOSIS THAT EVERY PLASTIC SURGEON CAN EXPERIENCE.
Šatný M et al. Acta chirurgiae plasticae 2020 60(2-4) 54-58 - Reclassification of genetic variants in children with long QT syndrome.
Westphal Dominik S et al. Molecular genetics & genomic medicine 2020 May e1300 - Inherited Thoracic Aortic Disease: New Insights and Translational Targets.
Fletcher Alexander J et al. Circulation 2020 May 141(19) 1570-1587 - Hematologist and transplant physicians: How and where to meet for the best of sickle cell disease patients?
Dalle Jean-Hugues et al. Hematology/oncology and stem cell therapy 2020 Apr - Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Bordet Céline et al. Journal of clinical medicine 2020 May 9(5) - Brief recommendations on the management of adult patients with familial hypercholesterolemia during the COVID-19 pandemic.
Banach Maciej et al. Pharmacological research 2020 May 104891 - Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Mattman Andre et al. Clinical biochemistry 2020 May
Newborn Screening
- Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status.
Farrell Michael H et al. The Journal of pediatrics 2020 May - Endocrine components of newborn screening.
Russell Melissa et al. Current problems in pediatric and adolescent health care 2020 May 100772
Pharmacogenomics
- Implementation of a pharmacogenomic program in a Brazilian Public Institution.
Suarez-Kurtz Guilherme et al. Pharmacogenomics 2020 May - Use of pharmacogenomics in elderly patients treated for cardiovascular diseases.
Božina Nada et al. Croatian medical journal 2020 Apr 61(2) 147-158 - Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015.
O'Donnell Peter H et al. Breast cancer research and treatment 2020 May - Recommendations for Clinical Warfarin Sensitivity Genotyping Allele Selection: A Report of the Association for Molecular Pathology and College of American Pathologists.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2020 May
Reproductive Health
- Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions.
Balzotti Marie et al. Human mutation 2020 May - Circulating Nucleic Acids in Maternal Plasma and Serum in Pregnancy Complications: Are They Really Useful in Clinical Practice? A Systematic Review.
Carbone Ilma Floriana et al. Molecular diagnosis & therapy 2020 May - Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Yaron Yuval et al. Human reproduction (Oxford, England) 2020 May - Colorectal cancer in the setting of pregnancy and familial risk.
Samadder N Jewel et al. International journal of colorectal disease 2020 May - Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis.
Qiu Xiuqing et al. Scientific reports 2020 May 10(1) 7564 - Initial Psychometric Analysis of Novel Instruments to Assess Decisional Distress and Decisional Uncertainty in Women Who Have Considered Using Preimplantation Genetic Testing.
Pastore Lisa M et al. Prenatal diagnosis 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.
.png)
No hay comentarios:
Publicar un comentario