Publication Date: Feb 13, 2020
Human Genomics across the Lifespan
Birth Defects and Child Health
- Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies.
Verdú-Díaz José et al. Neurology 2020 Feb - Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability.
Takahashi Nagahide et al. JAMA network open 2020 Feb 3(2) e1921644 - Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano María Jimena et al. Gaceta medica de Mexico 2020 156(1) 60-66 - Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359 - Global research on Fabry's disease: Demands for a rare disease.
Klingelhöfer Doris et al. Molecular genetics & genomic medicine 2020 Feb e1163 - SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
Hager Paul et al. PLoS computational biology 2020 Feb 16(2) e1007613 - Clinical Development on the Frontier: Gene Therapy for Duchenne Muscular Dystrophy.
Asher Damon R et al. Expert opinion on biological therapy 2020 Feb - Genetic Tests by Next Generation Sequencing in Children with Developmental Delay and/or Intellectual disability.
Han Ji Yoon et al. Clinical and experimental pediatrics 2020 Feb
Cancer
- Assessing the adherence to guidelines in Lynch syndrome patients: a pilot study.
Goh Li-Han et al. ANZ journal of surgery 2020 Feb - Young-Onset Colon Cancer and Recurrence Risk By Gene Expression.
Chang George J et al. Journal of the National Cancer Institute 2020 Feb - Unmet information needs of men with breast cancer and health professionals.
Bootsma Tom I et al. Psycho-oncology 2020 Feb - The effect of assessing genetic risk of prostate cancer on the use of PSA tests in primary care: A cluster randomized controlled trial.
Fredsøe Jacob et al. PLoS medicine 2020 Feb 17(2) e1003033 - Factors that impact risk management decisions among women with pathogenic variants in moderate penetrance genes associated with hereditary breast cancer.
Napoli Melissa et al. Journal of genetic counseling 2020 Feb - Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System.
Richardson Matthew et al. Cancers 2020 Feb 12(2) - Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program.
Hao Jing et al. Journal of personalized medicine 2020 Feb 10(1) - What men want: Qualitative analysis of what men with prostate cancer (PCa) want to learn regarding genetic referral, counseling, and testing.
Greenberg Samantha et al. The Prostate 2020 Feb - Case-Based Review and Clinical Guidance on the Use of Genomic Assays for Early-Stage Breast Cancer: Breast Cancer Therapy Expert Group (BCTEG).
Kittaneh Muaiad et al. Clinical breast cancer 2020 Jan - Experiences of BRCA1/2 Gene Mutation-Positive Women With Cancer in Communicating Genetic Risk to Their Relatives.
Seven Memnun et al. Cancer nursing 2020 Jan - Understanding and information needs of cancer patients regarding treatment-focused genomic testing: A systematic review.
Wolyniec Kamil et al. Psycho-oncology 2020 Feb
Chronic Disease
- Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
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Bleyer Anthony J et al. Clinical nephrology 2019 Dec 92(6) 302-311
Ethical, Legal and Social Issues (ELSI)
- Genomics: data sharing needs an international code of conduct.
Phillips Mark et al. Nature 2020 578(7793) 31-33 - Ethical and professional challenges encountered by Japanese healthcare professionals who provide genetic counseling services.
Yoshida Akiko et al. Journal of genetic counseling 2020 Feb - User-focused data sharing agreements: a foundation for the genomic future.
Petersen Carolyn et al. JAMIA open 2019 Dec 2(4) 402-406 - Disclosure to genetic relatives without consent - Australian genetic professionals' awareness of the health privacy law.
Meggiolaro Natalia et al. BMC medical ethics 2020 Feb 21(1) 13
General Practice
- Lessons Learned from Direct-to-Consumer Genetic Testing.
Petersen Lauren M et al. Clinics in laboratory medicine 2020 Mar 40(1) 83-92 - The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.
Dinulos Mary Beth Palko et al. Clinics in laboratory medicine 2020 Mar 40(1) 61-67 - Recommendations for designing genetic test reports to be understood by patients and non-specialists.
Farmer George D et al. European journal of human genetics : EJHG 2020 Feb - Primary care physician experiences utilizing a family health history tool with electronic health record-integrated clinical decision support: an implementation process assessment.
Lemke Amy A et al. Journal of community genetics 2020 Feb - Knowledge and Attitudes Towards Nutrigenetics: Findings from the 2018 Unified Forces Preventive Nutrition Conference (UFPN).
Kaufman-Shriqui Vered et al. Nutrients 2020 Jan 12(2) - Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.
Neustadt Ahna et al. Journal of genetic counseling 2020 Feb
Heart, Lung, Blood and Sleep Diseases
- Phenotypes of hypertrophic cardiomyopathy: genetics, clinics, and modular imaging.
Muresan Ioana Danuta et al. Heart failure reviews 2020 Feb - The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter Miriam S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb - Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Wilk Melissa A et al. Cold Spring Harbor molecular case studies 2020 Feb 6(1) - Autosomal recessive hypercholesterolemia: update for 2020.
D'Erasmo Laura et al. Current opinion in lipidology 2020 Jan - Peripheral microRNA panels to guide the diagnosis of familial cardiomyopathy.
Belmonte Thalía et al. Translational research : the journal of laboratory and clinical medicine 2020 Jan - Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.
Pina Ana et al. European journal of preventive cardiology 2020 Feb 2047487319898951 - Understanding sickle cell disease: impact of surveillance and gaps in knowledge.
Kaur Mandip et al. Blood advances 2020 Feb 4(3) 496-498 - Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
Brough Joe et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb - Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and β-thalassemias in dried blood spots.
Wiesinger Thomas et al. Clinical chemistry and laboratory medicine 2020 Feb
Newborn Screening
- Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien Yin-Hsiu et al. Orphanet journal of rare diseases 2020 Feb 15(1) 38 - Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR.
Takeuchi Atsuko et al. The Kobe journal of medical sciences 2019 Nov 65(3) E95-E99
Pharmacogenomics
- Study of pharmacogenomic information in FDA-approved drug labeling to facilitate application of precision medicine.
Mehta Darshan et al. Drug discovery today 2020 Feb - Focus group testing of a mobile app for pharmacogenetic-guided dosing.
Dodson Crystal Heath et al. Journal of the American Association of Nurse Practitioners 2020 Feb - Utility evaluation of HLA-B*13:01 screening in preventing trichloroethylene-induced hypersensitivity syndrome in a prospective cohort study.
Dai Yufei et al. Occupational and environmental medicine 2020 Feb - Machine Learning Algorithm for Predicting Warfarin Dose in Caribbean Hispanics Using Pharmacogenetic Data.
Roche-Lima Abiel et al. Frontiers in pharmacology 2019 101550 - Effect of Gene-Based Warfarin Dosing on Anticoagulation Control and Clinical Events in a Real-World Setting.
Zhang Jinhua et al. Frontiers in pharmacology 2019 101527 - Pharmacogenomics of Pain Management: The Impact of Specific Biological Polymorphisms on Drugs and Metabolism.
Cornett Elyse M et al. Current oncology reports 2020 Feb 22(2) 18
Reproductive Health
- Evolution of a prenatal genetic clinic - A ten-year cohort study.
Mone Fionnuala et al. Prenatal diagnosis 2020 Feb - The role of prenatal diagnosis following preimplantation genetic testing for single gene conditions: an historical overview of evolving technologies and clinical practice.
Hardy Tristan et al. Prenatal diagnosis 2020 Feb - A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: what is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?
Toft Christian Liebst Frisk et al. Acta obstetricia et gynecologica Scandinavica 2020 Feb - Medical Genetics for Practicing Obstetrician.
Sreelakshmi K N et al. Journal of obstetrics and gynaecology of India 2020 Feb 70(1) 6-11 - Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review.
Samura Osamu et al. Taiwanese journal of obstetrics & gynecology 2020 Jan 59(1) 16-20 - Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology.
Xue Shuya et al. Cytogenetic and genome research 2020 Feb
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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