Publication Date: Feb 27, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61 - The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel Adam J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb - Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
Kondkar Altaf A et al. Experimental eye research 2019 189107834 - Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes Eline C B et al. Molecular genetics and metabolism 2020 Feb
Cancer
- Clinical vs genomic risks in breast cancer in 2019: Breast pathologist's appellate review of the controversial results from TAILORx trial.
Wei Christina H et al. The breast journal 2020 Feb - Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group.
Geiersbach Katherine B et al. Cancer genetics 2020 Feb 24411-20 - The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
Hu Chunling et al. Journal of the National Cancer Institute 2020 Feb - Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen Bo et al. Aging 2020 Feb 12 - Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
Yanes Tatiane et al. Breast cancer research : BCR 2020 Feb 22(1) 21 - Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
Zhang Xiaofu et al. Reproductive biology and endocrinology : RB&E 2020 Feb 18(1) 11 - An evidence-based guideline on the application of molecular testing in the diagnosis, prediction of prognosis, and selection of therapy in non-GIST soft tissue sarcomas.
Yao Xiaomei et al. Cancer treatment reviews 2020 Feb 85101987 - "Balancing Expectations with Actual Realities": Conversations with Clinicians and Scientists in the First Year of a High-Risk Childhood Cancer Precision Medicine Trial.
McGill Brittany C et al. Journal of personalized medicine 2020 Feb 10(1) - Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal Sun Hee et al. BioMed research international 2020 20203289023
Chronic Disease
- The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
Mallett Andrew et al. BMC nephrology 2020 Feb 21(1) 58
Ethical, Legal and Social Issues (ELSI)
- Broad consent in practice: lessons learned from a hospital-based biobank for prospective research on genomic and medical data.
Barazzetti Gaia et al. European journal of human genetics : EJHG 2020 Feb - The Fraught Reality of Genomic Sequencing.
et al. The American journal of nursing 2020 Mar 120(3) 14 - Genomic data sharing in Europe is Stumbling-Could a code of conduct prevent its fall?
Molnár-Gábor Fruzsina et al. EMBO molecular medicine 2020 Feb e11421 - Editorial: Topical ethical issues in the publication of human genetics research.
Curtis David et al. Annals of human genetics 2020 Feb
General Practice
- Introduction to the special issue on "Genetic Screening and Testing".
Mitchell Anna L et al. Birth defects research 2020 Feb - Evaluating a genetic counseling narrative group session for people who have tested positive for the Huntington's disease expansion: An interpretative phenomenological analysis.
Spiers Johanna et al. Journal of genetic counseling 2020 Feb - The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad.
Kilbride Madison K et al. JAMA 2020 Feb
Heart, Lung, Blood and Sleep Diseases
- Therapeutic genome editing in cardiovascular diseases.
Nishiga Masataka et al. Advanced drug delivery reviews 2020 Feb - Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
Mazzarotto Francesco et al. Cardiovascular drugs and therapy 2020 Feb - Genetic Heart Diseases: Familial Aortopathies - State of the Art Review.
Zentner Dominica et al. Heart, lung & circulation 2019 Dec
Newborn Screening
- Five years of screening for galactosaemia in South Africa: pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country.
Satekge Tumelo M et al. Clinica chimica acta; international journal of clinical chemistry 2020 Feb - Utilization of archived neonatal dried blood spots for genome-wide genotyping.
Sok Pagna et al. PloS one 2020 15(2) e0229352 - Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987
Pharmacogenomics
- Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists.
Meloche Maxime et al. Pharmacogenomics 2020 Feb - Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience.
Aquilante Christina L et al. Pharmacogenomics 2020 Feb - Pharmacogenomics in pregnancy.
Betcher Hannah K et al. Seminars in perinatology 2020 Jan 151222 - CYP2D6 polymorphism and its impact on the clinical response to metoprolol: A systematic review and meta-analysis.
Meloche Maxime et al. British journal of clinical pharmacology 2020 Feb - Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective.
Rigter Tessel et al. Frontiers in genetics 2020 1110
Reproductive Health
- Using miRNAs as diagnostic biomarkers for male infertility: opportunities and challenges.
Vashisht A et al. Molecular human reproduction 2020 Feb - Preimplantation Genetic Testing: ACOG Committee Opinion, Number 799.
et al. Obstetrics and gynecology 2020 Mar 135(3) e133-e137 - Preimplantation Genetic Testing: ACOG Committee Opinion Summary, Number 799.
et al. Obstetrics and gynecology 2020 Mar 135(3) 752-753 - Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
Amor David J et al. Prenatal diagnosis 2020 Feb - Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.
Yotsumoto Junko et al. BMC pregnancy and childbirth 2020 Feb 20(1) 112
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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