Publication Date: Jan 16, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Developing competencies in genetics nursing: Education intervention for perinatal and pediatric nurses.
Murakami Kyoko et al. Nursing & health sciences 2020 Jan - Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies.
Brunklaus Andreas et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019 Dec - Access to Multidisciplinary Care for Patients With 22q11.2 Deletion Syndrome: Identifying Breakdowns in the Screening Process.
Abu-Ghname Amjed et al. The Journal of craniofacial surgery 2020 Jan - Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn P J et al. Human genomics 2020 Jan 14(1) 2 - Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.
Rentas Stefan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography?
Suman Gök Ebru et al. Nephron 2020 Jan 1-6
Cancer
- Colorectal Cancer Family History Ascertainment in the Age of Genomic Medicine: More Important Than Ever!
Weber Thomas et al. Diseases of the colon and rectum 2020 Feb 63(2) 125-128 - Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Engel Christoph et al. Gastroenterology 2020 Jan - Should women with early breast cancer under 40 years of age have a routine 21-gene recurrence score testing: A SEER database study.
Liu Kai-Hua et al. Breast (Edinburgh, Scotland) 2019 Dec 49233-241 - Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.
Tausch Eugen et al. Haematologica 2020 Jan - The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer.
Conley Claire C et al. Journal of genetic counseling 2020 Jan - Implementation and use of whole exome sequencing in daily practice for metastatic solid cancer.
Réda Manon et al. EBioMedicine 2020 Jan 51102624 - BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling.
Chao Angel et al. Journal of gynecologic oncology 2019 Oct - Exploring relatives' perceptions of participation, ethics, and communication in a patient-driven study for hereditary cancer variant reclassification.
Tsai Ginger J et al. Journal of genetic counseling 2020 Jan - Utilization of genetic testing in breast cancer treatment after implementation of comprehensive multi-disciplinary care.
Doe Samfee et al. The breast journal 2020 Jan - Association Between 21-Gene Assay Recurrence Score and Locoregional Recurrence Rates in Patients With Node-Positive Breast Cancer.
Woodward Wendy A et al. JAMA oncology 2020 Jan - Prognosis of BRCA1/2-negative breast cancer patients with HBOC risk factors compared with sporadic breast cancer patients without HBOC risk factors.
Ryu Jai Min et al. Japanese journal of clinical oncology 2020 Jan - Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.
Offit Kenneth et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jan JCO1902010
Chronic Disease
- Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.
de Haan Amber et al. Frontiers in genetics 2019 101264 - Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos Eliana Marisa et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Jan 16(1) 118-130 - Alzheimer's Prevention Initiative Generation Program: Development of an APOE genetic counseling and disclosure process in the context of clinical trials.
Langlois Carolyn M et al. Alzheimer's & dementia (New York, N. Y.) 2019 5705-716 - A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu Allen Chi-Shing et al. Frontiers in neuroscience 2019 131324 - Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration.
Balikova Irina et al. BMJ open ophthalmology 2019 4(1) e000273 - Understanding the impact of five major determinants of health (genetics, biology, behavior, psychology, society/environment) on type 2 diabetes in U.S. Hispanic/Latino families: Mil Familias - a cohort study.
Morales Jessikah et al. BMC endocrine disorders 2020 Jan 20(1) 4 - Utility of Precision Medicine in the Management of Diabetes: Expert Opinion from an International Panel.
Kalra Sanjay et al. Diabetes therapy : research, treatment and education of diabetes and related disorders 2020 Jan - Reproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program.
Levey Daniel F et al. The American journal of psychiatry 2020 Jan appiajp201919030256 - Familial Mediterranean fever is associated with increased risk for ischemic heart disease and mortality - perspective derived from a large database.
Gendelman Omer et al. International journal of clinical practice 2020 Jan e13473
Ethical, Legal and Social Issues (ELSI)
- "Just tell me what's going on": The views of parents of children with genetic conditions regarding the research use of their child's electronic health record.
Andrews Sara M et al. Journal of the American Medical Informatics Association : JAMIA 2020 Jan - Pharmacogenetic Testing: The Ethics of Implementing in Clinical Practice for Chronic Pain Patients.
Fredrikson Karin M et al. Journal of pain & palliative care pharmacotherapy 2020 Jan 1-8 - Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study.
Ballard Lisa M et al. European journal of human genetics : EJHG 2020 Jan - A review of the legislation of direct-to-consumer genetic testing in EU member states.
Hoxhaj Ilda et al. European journal of medical genetics 2020 Jan 103841 - 'Genes versus children': if the goal is parenthood, are we using the optimal approach?
Kirkman-Brown Jackson C et al. Human reproduction (Oxford, England) 2020 Jan - Uncovering social structures and informational prejudices to reduce inequity in delivery and uptake of new molecular technologies.
Filoche Sara et al. Journal of medical ethics 2020 Jan - The challenges of maintaining genetic privacy.
Carmi Shai et al. eLife 2020 Jan 9
General Practice
- Using the Findings of a National Survey to Inform the Work of England's Genomics Education Programme.
Simpson Siobhan et al. Frontiers in genetics 2019 101265 - Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologies.
Farwell Hagman Kelly D et al. Journal of genetic counseling 2020 Jan - An exploration of genetic counseling information needs and information-seeking behaviors.
Donahue Amy E et al. Journal of genetic counseling 2020 Jan - Molecular genetic testing laboratory management: emerging challenges for quality assurance.
Henslee Charon R et al. Journal of histotechnology 2019 Dec 42(4) 240-244 - Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.
Frey Melissa K et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jan JCO1902005
Heart, Lung, Blood and Sleep Diseases
- Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation.
Martinent Guillaume et al. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2020 Jan - Epidemiology and Clinical Characteristics of Atrial Fibrillation in Patients with Inherited Heart Diseases.
Butters Alexandra et al. Journal of cardiovascular electrophysiology 2020 Jan - Clinical and Genetic Evaluation After Sudden Cardiac Arrest.
Harris Stephanie L et al. Journal of cardiovascular electrophysiology 2020 Jan - Genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura Jirí et al. Vnitrni lekarstvi 2019 65(10) 652-658 - Mortality in children with sickle cell disease in mainland France from 2000 to 2015.
Desselas Emilie et al. Haematologica 2020 Jan - Performance of ICD-10-CM diagnosis codes for identifying children with Sickle Cell Anemia.
Reeves Sarah L et al. Health services research 2020 Jan - Genetic influence on bleeding and over-anticoagulation risk in patients undergoing warfarin treatment after heart valve replacements.
Zhou Ling et al. Expert opinion on drug metabolism & toxicology 2020 Jan 1-9 - The development of a theory informed behaviour change intervention to improve adherence to dietary and physical activity treatment guidelines in individuals with familial hypercholesterolaemia (FH).
Kinnear F J et al. BMC health services research 2020 Jan 20(1) 27 - Predicting Atrial Fibrillation using a Combination of Genetic Risk Score and Clinical Risk Factors.
Okubo Yousaku et al. Heart rhythm 2020 Jan - Web-Based Technology to Improve Disease Knowledge Among Adolescents With Sickle Cell Disease: Pilot Study.
Saulsberry Anjelica C et al. JMIR pediatrics and parenting 2020 Jan 3(1) e15093
Newborn Screening
- Danish expanded newborn screening is a successful preventive public health programme.
Lund Allan et al. Danish medical journal 2020 Jan 67(1) - Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
Lin Yiming et al. Frontiers in genetics 2019 101255 - Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola Amarilla B et al. Frontiers in immunology 2019 102940 - Metabolomics and adductomics of newborn bloodspots to retrospectively assess the early-life exposome.
Petrick Lauren M et al. Current opinion in pediatrics 2020 Jan - Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.
Munck Anne et al. Pediatric pulmonology 2020 Jan
Pharmacogenomics
- Prospective CYP2C19 Genotyping to Guide Antiplatelet Therapy Following Percutaneous Coronary Intervention: A Pragmatic Randomized Clinical Trial.
Tuteja Sony et al. Circulation. Genomic and precision medicine 2020 Jan - " Bridging the Gap " Everything that Could Have Been Avoided If We Had Applied Gender Medicine, Pharmacogenetics and Personalized Medicine in the Gender-Omics and Sex-Omics Era.
Gemmati Donato et al. International journal of molecular sciences 2019 Dec 21(1)
Reproductive Health
- Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.
Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG).
Monaghan Kristin G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan - An economic analysis of preimplantation genetic testing for aneuploidy (PGT-A) by polar body biopsy in advanced maternal age.
Neumann Kay et al. BJOG : an international journal of obstetrics and gynaecology 2020 Jan - Sexual Health in the Era of Cancer Genetic Testing: A Systematic Review.
Yusufov Miryam et al. Sexual medicine reviews 2020 Jan
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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