Publication Date: Nov 27, 2019
Human Genomics across the Lifespan
Birth Defects and Child Health
- A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders.
Fahr Patrick et al. PharmacoEconomics 2019 Nov - Biomarkers for diagnosis of Wilson's disease.
Ryan Aidan et al. The Cochrane database of systematic reviews 2019 Nov 2019(11) - Evidence For and Against Genetic Testing to Identify Children at Risk of High Myopia.
Guggenheim Jeremy A et al. Ophthalmology 2019 Dec 126(12) 1615-1616 - Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon Jihoon G et al. Neurosurgery 2019 Nov - Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.
Salmaninejad Arash et al. Ophthalmic genetics 2019 Oct 40(5) 393-402
Cancer
- Sex Disparity Observed for Oncotype DX Breast Recurrence Score in Predicting Mortality Among Patients with Early Stage ER-Positive Breast Cancer.
Wang Fei et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Nov - Mainstreamed genetic testing in ovarian cancer: patient experience of the testing process.
McLeavy Laura et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov - Role of Molecular Profiling of Pancreatic Cancer After Neoadjuvant Therapy: Does it Change Practice?
Krepline Ashley N et al. Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2019 Nov - Diffuse gliomas in patients aged 55 years or over: A suggestion for IDH mutation testing.
Barresi Valeria et al. Neuropathology : official journal of the Japanese Society of Neuropathology 2019 Nov - Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay.
Selvam Pavalan et al. Molecular diagnosis & therapy 2019 Nov - Use of Family History and Genetic Testing to Determine Risk of Colorectal Cancer.
Kastrinos Fay et al. Gastroenterology 2019 Nov - Precision Medicine and Targeted Therapies in Breast Cancer.
Greenwalt Ian et al. Surgical oncology clinics of North America 2020 Jan 29(1) 51-62 - Evidence That Established Lung Cancer Mortality Disparities in American Indians Are Not Due to Lung Cancer Genetic Testing and Targeted Therapy Disparities.
Begnaud Abbie et al. Clinical lung cancer 2019 Oct - Impact of Gene Expression Profile Testing on the Management of Squamous Cell Carcinoma by Dermatologists
Rebeca Teplitz et al. Journal of drugs in dermatology : JDD 2019 Oct 18(10) 980-984 - Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer.
Stasenko Marina et al. Gynecologic oncology 2019 Nov - Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.
Stern Benjamin et al. Current treatment options in gastroenterology 2019 Nov
Chronic Disease
- Genetic Testing for APOL1 Genetic Variants in Clinical Practice: Finally Starting to Arrive.
Kopp Jeffrey B et al. Clinical journal of the American Society of Nephrology : CJASN 2019 Nov
Ethical, Legal and Social Issues (ELSI)
- DNA Data Marketplace: An Analysis of the Ethical Concerns Regarding the Participation of the Individuals.
Ahmed Eman et al. Frontiers in genetics 2019 101107 - Preferences for Return of Genetic Results among Participants in the Jackson and Framingham Heart Studies.
Joffe Steven et al. Circulation. Genomic and precision medicine 2019 Nov - Donors, authors, and owners: how is genomic citizen science addressing interests in research outputs?
Guerrini Christi J et al. BMC medical ethics 2019 Nov 20(1) 84 - Designing Preclinical Studies in Germline Gene Editing: Scientific and Ethical Aspects.
Nordgren Anders et al. Journal of bioethical inquiry 2019 Nov
General Practice
- Evaluation of Commercial Next-Generation Sequencing Bioinformatics Software Solutions.
Gullapalli Rama R et al. The Journal of molecular diagnostics : JMD 2019 Nov
Heart, Lung, Blood and Sleep Diseases
- Myocardial interstitial fibrosis in the era of precision medicine. Biomarker-based phenotyping for a personalized treatment.
Ravassa Susana et al. Revista espanola de cardiologia (English ed.) 2019 Nov - Risk prediction of future cardiac arrest by evaluation of a genetic risk score alone and in combination with traditional risk factors.
Ohlsson Marcus Andreas et al. Resuscitation 2019 Nov - European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
van de Laar Ingrid M B H et al. Orphanet journal of rare diseases 2019 Nov 14(1) 264
Newborn Screening
- Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS.
Menkovic Iskren et al. Diagnostics (Basel, Switzerland) 2019 Nov 9(4)
Pharmacogenomics
- Early change in circulating tumor DNA as a potential predictor of response to chemotherapy in patients with metastatic colorectal cancer.
Osumi Hiroki et al. Scientific reports 2019 Nov 9(1) 17358 - Clinical Utility of Pharmacogene Panel-Based Testing in Patients Undergoing Percutaneous Coronary Intervention (PCI).
El Rouby Nihal et al. Clinical and translational science 2019 Nov - Stakeholder perspectives of the clinical utility of pharmacogenomic testing in solid organ transplantation.
Deininger Kimberly M et al. Pharmacogenomics 2019 Nov
Reproductive Health
- Single Molecule Sequencing A New Approach for Preimplantation Testing and Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype.
Rechitsky Svetlana et al. The Journal of molecular diagnostics : JMD 2019 Nov - Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center.
Satirapod Chonthicha et al. PloS one 2019 14(11) e0225457 - Karyomapping in preimplantation genetic testing for β-thalassemia combined with HLA matching: a systematic summary.
Wang Jing et al. Journal of assisted reproduction and genetics 2019 Nov - Sperm DNA fragmentation on the day of fertilization is not associated with embryologic or clinical outcomes after IVF/ICSI.
Green Katherine A et al. Journal of assisted reproduction and genetics 2019 Nov - The current and future impact of genome-wide sequencing on fetal precision medicine.
Sabbagh Riwa et al. Human genetics 2019 Nov - The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13.
Zhen Li et al. Taiwanese journal of obstetrics & gynecology 2019 Nov 58(6) 798-800 - Healthy live births after mosaic blastocyst transfers with the use of next-generation sequencing.
Liu Yung-Liang et al. Taiwanese journal of obstetrics & gynecology 2019 Nov 58(6) 872-876
Event
- Hereditary cancer syndromes: Are your patients at risk?
Self paced course from the Jackson Laboratory
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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