Publication Date: Sep 5, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.
Dragojlovic Nick et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug - Practical Approach to Genetic Testing for Primary Immunodeficiencies.
Chinen Javier et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019 Aug - Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies.
Gil-da-Silva-Lopes Vera Lúcia et al. Public health genomics 2019 Aug 1-7 - Primary care physicians' understanding and utilization of pediatric exome sequencing results.
Mazzola Sarah E et al. Journal of genetic counseling 2019 Aug - Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Seo Go Hun et al. Journal of human genetics 2019 Aug
Cancer
- Multi gene panel testing for hereditary breast cancer - is it ready to be used?
Catana Andreea et al. Medicine and pharmacy reports 2019 Jul 92(3) 220-225 - Medication Use to Reduce Risk of Breast Cancer- US Preventive Services Task Force Recommendation Statement
USPSTF Recommendation, JAMA, September 3, 2019 - Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.
Goverde A et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Aug - From Somatic Variants Toward Precision Oncology: An Investigation of Reporting Practice for Next-Generation Sequencing-Based Circulating Tumor DNA Analysis.
Peng Rongxue et al. The oncologist 2019 Aug - An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
Piccinin Carolyn et al. Expert review of anticancer therapy 2019 Aug - Next-generation sequencing for tumor mutation quantification using liquid biopsies.
Provencio Mariano et al. Clinical chemistry and laboratory medicine 2019 Aug - Therapeutic relevance of targeted sequencing in management of patients with advanced biliary tract cancer: DNA damage repair gene mutations as a predictive biomarker.
Chae Heejung et al. European journal of cancer (Oxford, England : 1990) 2019 Aug 12031-39 - Fecal DNA Testing for Colorectal Cancer Screening.
Carethers John M et al. Annual review of medicine 2019 Aug - Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting.
Snowsill Tristan M et al. PloS one 2019 14(8) e0221419 - Universal Genetic Testing for All Breast Cancer Patients.
Copur Mehmet Sitki et al. Oncology (Williston Park, N.Y.) 2019 Aug 33(8)
Chronic Disease
- Polygenic risk scores in schizophrenia with clinically significant copy number variants.
Taniguchi Satoru et al. Psychiatry and clinical neurosciences 2019 Aug - Genetic predisposition, modifiable-risk-factor profile and long-term dementia risk in the general population.
Licher Silvan et al. Nature medicine 2019 Aug
Ethical, Legal and Social Issues (ELSI)
- Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France.
Derbez Benjamin et al. Journal of medical ethics 2019 Aug - Opportunities and Challenges in Interpreting and Sharing Personal Genomes.
Rubin Irit R et al. Genes 2019 Aug 10(9)
General Practice
- Exploration of genetic health professional - Laboratory specialist interactions in diagnostic genomic sequencing.
Vears Danya F et al. European journal of medical genetics 2019 Aug 103749 - Application of ACMG criteria to classify variants in the human gene mutation database.
Qu Hui-Qi et al. Journal of human genetics 2019 Aug
Heart, Lung, Blood and Sleep Diseases
- Turkish Society of Cardiology consensus report on recommendations for athletes with high-risk genetic cardiovascular diseases or implanted cardiac devices.
?zel Erdem et al. Anatolian journal of cardiology 2019 Sep 22(3) 140-151 - Randomized clinical trial of computerized PAINRelieveIt® for patients with sickle cell disease: PAINReportIt® and PAINUCope®.
Dyal Brenda W et al. Patient education and counseling 2019 Aug - Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies.
Wu Joseph C et al. Circulation research 2019 Aug 125(6) 653-658 - The epidemiology of sickle cell disease in children recruited in infancy in Kilifi, Kenya: a prospective cohort study.
Uyoga Sophie et al. The Lancet. Global health 2019 Aug
Newborn Screening
- Newborn Screening for Severe Combined Immunodeficiency.
Taki Mohammed et al. Pediatric clinics of North America 2019 Oct 66(5) 913-923 - Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.
Berrios Courtney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
Pharmacogenomics
- A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping.
Shi Yaping et al. MDM policy & practice 4(2) 2381468319864337 - Pharmacogenomics in the Nigerian population: the past, the present and the future.
Bolaji Oluseye O et al. Pharmacogenomics 2019 Aug 20(12) 915-926 - Implementation of wide-scale pharmacogenetic testing in primary care.
Natasha Petry et al. Pharmacogenomics 2019 Aug 20(12) 903-913 - Longitudinal exposure of English primary care patients to pharmacogenomic drugs: an analysis to inform design of pre-emptive pharmacogenomic testing.
Kimpton James E et al. British journal of clinical pharmacology 2019 Aug - Pharmacogenetics of opioids: a narrative review.
Kumar S et al. Anaesthesia 2019 Aug - Pharmacogenetics and Depression: A Critical Perspective.
Corponi Filippo et al. Psychiatry investigation 2019 Aug
Reproductive Health
- Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women.
Wang Jing et al. Annals of translational medicine 2019 Jul 7(14) 319 - The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study.
Shi Ye et al. Annals of translational medicine 2019 Jul 7(14) 318 - Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Choy Kwong Wai et al. Frontiers in genetics 2019 10761 - When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy.
Neal Shelby A et al. Journal of assisted reproduction and genetics 2019 Aug
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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