Publication Date: Dec 12, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- Detection of collagens by multispectral optoacoustic tomography as an imaging biomarker for Duchenne muscular dystrophy.
Regensburger Adrian P et al. Nature medicine 2019 Dec 25(12) 1905-1915 - Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.
Zhang Wei et al. PloS one 2019 14(12) e0225281 - Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs).
Manta-Vogli Penelope D et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Dec - Primary care provider perspectives on using genomic sequencing in the care of healthy children.
Joshi Esha et al. European journal of human genetics : EJHG 2019 Dec - Participatory development of a patient-clinician communication tool to enhance healthcare transitions for young people with 22q11.2.
Kerin Lorna et al. Irish journal of medical science 2019 Dec - Why parents consent to their children's participation in genetic research: A study of parental decision making.
Kumari Sunita et al. Indian journal of medical ethics 4 (NS)(4) - A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?
Beghi E et al. Seizure 2019 Nov 7426-30
Cancer
- New PCD Collection: CDC Colorectal Cancer Control Program
- NCCN Publishes Updated Genetic Risk Assessment Recommendations,
The Journal of Clinical Pathways, December 5, 2019 - Screening Families of North Texans to Identify Persons with an Increased Risk for Cancer Due to Lynch Syndrome.
Ross Theodora et al. Texas medicine 2019 Dec 115(12) e1 - Implementing universal cancer screening programs can help sustain genomic medicine programs.
Rahm Alanna Kulchak et al. Personalized medicine 2019 Dec - Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH).
Palacios J et al. Virchows Archiv : an international journal of pathology 2019 Dec - Low Rates of Genetic Counseling and Testing in Individuals at Risk for Lynch Syndrome reported in the National Health Interview Survey.
Faust Nolan et al. Gastroenterology 2019 Dec - Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Dominguez-Valentin Mev et al. Scientific reports 2019 Dec 9(1) 18555 - Prognostic Impact of the 21-Gene Recurrence Score Assay Among Young Women With Node-Negative and Node-Positive ER-Positive/HER2-Negative Breast Cancer.
Poorvu Philip D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Dec JCO1901959 - Gene Expression Assay in the Management of Early Breast Cancer.
Caputo Roberta et al. Current medicinal chemistry 2019 Dec - Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.
Jones T et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Dec - Clinical prognostic value of isocitrate dehydrogenase mutation, O-6-methylguanine-DNA methyltransferase promoter methylation, and 1p19q co-deletion in glioma patients.
Chen Xi et al. Annals of translational medicine 2019 Oct 7(20) 541 - Culturally Targeted Video Improves Psychosocial Outcomes in Latina Women at Risk of Hereditary Breast and Ovarian Cancer.
Hurtado-de-Mendoza Alejandra et al. International journal of environmental research and public health 2019 Nov 16(23) - Head-to-Head Comparison of Family History of Colorectal Cancer and a Genetic Risk Score for Colorectal Cancer Risk Stratification.
Weigl Korbinian et al. Clinical and translational gastroenterology 2019 Nov - Reducing Disparities in Receipt of Genetic Counseling for Underserved Women at Risk of Hereditary Breast and Ovarian Cancer.
Sutton Arnethea L et al. Journal of women's health (2002) 2019 Nov - Prevalence of a First-Degree Relative with Colorectal Cancer and Uptake of Screening Among Persons 40 to 54 Years Old.
Weigl Korbinian et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Dec
Chronic Disease
- Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.
Crawford Dana C et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2020 25575-586 - How to Integrate Personalized Medicine into Prevention? Recommendations from the Personalized Prevention of Chronic Diseases (PRECeDI) Consortium.
Boccia Stefania et al. Public health genomics 2019 Dec 1-7
Ethical, Legal and Social Issues (ELSI)
- Precision Medicine: Addressing the Challenges of Sharing, Analysis, and Privacy at Scale.
Brenner Steven E et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2020 25547-550 - African American mothers' attitudes towards genetic testing in the InterGEN study.
Wright Michelle L et al. Journal of community genetics 2019 Dec
General Practice
- The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.
Perry Tabitha J et al. American journal of medical genetics. Part A 2019 Dec - Consumer (dis-)interest in Genetic Ancestry Testing: The roles of race, immigration, and ancestral certainty.
Horowitz Adam L et al. New genetics and society 2019 38(2) 165-194 - LitGen: Genetic Literature Recommendation Guided by Human Explanations.
Nie Allen et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2020 2567-78 - The Development of Clinical Genomics and Genetics Within Healthcare: How Should the Allied Health Professions Respond?
Elliott James M et al. Journal of allied health 2019 48(4) e101-e105 - The Importance of Genetics Experts in Optimizing Genetic Test Orders Through Prospective and Retrospective Reviews.
Conway M Edye et al. American journal of clinical pathology 2019 Dec - Genomic testing is best integrated into clinical practice when it is actionable.
Hendricks-Sturrup Rachele M et al. Personalized medicine 2019 Dec
Heart, Lung, Blood and Sleep Diseases
- The International/Canadian Hereditary Angioedema Guideline.
Betschel Stephen et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2019 1572 - Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
Ramaswami Uma et al. Atherosclerosis 2019 Nov 292178-187 - The Clinical Utility and Assessment of Renal Biomarkers in Acute Kidney Injury After Abdominal Endovascular Aneurysm Repair. A Systematic Review.
Karaolanis Georgios et al. Current pharmaceutical design 2019 Dec - End points for sickle cell disease clinical trials: renal and cardiopulmonary, cure, and low-resource settings.
Farrell Ann T et al. Blood advances 2019 Dec 3(23) 4002-4020 - End points for sickle cell disease clinical trials: patient-reported outcomes, pain, and the brain.
Farrell Ann T et al. Blood advances 2019 Dec 3(23) 3982-4001 - Analysis of genotype distribution of thalassemia and G6PD deficiency among Hakka population in Meizhou city of Guangdong Province.
Wu Heming et al. Journal of clinical laboratory analysis 2019 Dec e23140 - Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
Borie Raphael et al. Orphanet journal of rare diseases 2019 Dec 14(1) 280 - New advances in the diagnosis of von Willebrand disease.
Sharma Ruchika et al. Hematology. American Society of Hematology. Education Program 2019 Dec 2019(1) 596-600 - Sickle cell disease: a comprehensive program of care from birth.
de Montalembert Mariane et al. Hematology. American Society of Hematology. Education Program 2019 Dec 2019(1) 490-495 - Comparative Effectiveness of a Web-Based Patient Decision Aid for Therapeutic Options for Sickle Cell Disease: Randomized Controlled Trial.
Krishnamurti Lakshmanan et al. Journal of medical Internet research 2019 Dec 21(12) e14462 - Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.
Xue Jun et al. Annals of translational medicine 2019 Oct 7(20) 527 - Genetic Testing in Inherited Heart Diseases.
Ingles Jodie et al. Heart, lung & circulation 2019 Nov
Newborn Screening
- Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Carvalho Nara de Oliveira et al. Journal of medical screening 2019 Dec 969141319892298
Pharmacogenomics
- Pharmacogenomics In Pharmacy Practice: Current Perspectives.
Elewa Hazem et al. Integrated pharmacy research & practice 2019 897-104 - Deep learning of pharmacogenomics resources: moving towards precision oncology.
Chiu Yu-Chiao et al. Briefings in bioinformatics 2019 Dec - PGxMine: Text mining for curation of PharmGKB.
Lever Jake et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2020 25611-622 - CYP2D6 Genotype Predicts Tamoxifen Discontinuation and Prognosis in Patients With Breast Cancer.
He Wei et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Dec JCO1901535 - Pharmacogenomic biomarker information differences between drug labels in the United States and Hungary: implementation from medical practitioner view.
Varnai Reka et al. The pharmacogenomics journal 2019 Dec - Concepts Driving Pharmacogenomics Implementation Into Everyday Healthcare.
Giri Jyothsna et al. Pharmacogenomics and personalized medicine 2019 12305-318
Reproductive Health
- Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
Togneri Fiona S et al. Genetics research 2019 Dec 101e11 - Informed Decision Making Regarding Prenatal Aneuploidy Screening.
Shea Tamra L et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN 2019 Dec - Alternative option labeling impacts decision-making in noninvasive prenatal screening.
Fisher Camille F et al. Journal of genetic counseling 2019 Dec - It takes two: uptake of carrier screening among male reproductive partners.
Giles Choates Meagan et al. Prenatal diagnosis 2019 Dec - Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
Sato Takeshi et al. Human reproduction (Oxford, England) 2019 Dec - Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis.
Hochner Hagit et al. Obstetrics and gynecology 2019 Dec
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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