Published on 08/29/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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The Implementation, Diagnostic Yield and Clinical Outcome of Genetic Testing on an Inpatient Child and Adolescent Psychiatry Service
AD Besterman et al, MedRXIV preprint, August 2019 -
The influence of genetics in congenital diaphragmatic hernia.
Yu Lan et al. Seminars in perinatology 2019 Aug 151169 -
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty Rebecca et al. Epilepsia open 2019 Sep 4(3) 397-408 -
At-home genetic testing in pediatrics.
Weissman Scott M et al. Current opinion in pediatrics 2019 Aug
Cancer
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US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
Newman Lisa et al. JAMA surgery 2019 Aug -
Molecular testing for advanced non-small cell lung cancer in Malaysia: Consensus statement from the College of Pathologists, Academy of Medicine Malaysia, the Malaysian Thoracic Society, and the Malaysian Oncological Society.
Rajadurai Pathmanathan et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 13665-73 -
Recommendations from a Portuguese Expert Group for Discontinuation of Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia Patients in Clinical Practice.
Almeida Antonio et al. Acta medica portuguesa 2019 Aug 32(7-8) 550-557 -
Trans-omics biomarker model improves prognostic prediction accuracy for early-stage lung adenocarcinoma.
Dong Xuesi et al. Aging 2019 Aug 11 -
Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.
Terkelsen Thorkild et al. Familial cancer 2019 Aug -
Guidelines of care for the management of primary cutaneous melanoma.
Swetter Susan M et al. Journal of the American Academy of Dermatology 2019 80(1) 208-250 -
SEOM clinical guideline for treatment of muscle-invasive and metastatic urothelial bladder cancer (2018).
Gonz?lez Del Alba A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 Jan 21(1) 64-74 -
NCCN Guidelines Insights: Thyroid Carcinoma, Version 2.2018.
Haddad Robert I et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Dec 16(12) 1429-1440 -
Is BRCA mutational status a predictor of platinum-based chemotherapy related hematologic toxicity in high-grade serous ovarian cancer patients?
Tomao Federica et al. Gynecologic oncology 2019 154(1) 138-143 -
Imaging-guided precision medicine in glioblastoma patients treated with immune checkpoint modulators: research trend and future directions in the field of imaging biomarkers and artificial intelligence.
Sinigaglia Mathieu et al. EJNMMI research 2019 Aug 9(1) 78 -
Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA.
Wan Nathan et al. BMC cancer 2019 Aug 19(1) 832 -
New BRCA recommendations: What primary care doctors must know,
by Kevin B. O?Reilly, AMA, August 22, 2019 -
Diagnostic significance assessment of the circulating cell-free DNA in ovarian cancer: An updated meta-analysis.
Li Boxuan et al. Gene 2019 Sep 714143993 -
Lynch Syndrome: Current management In 2019.
Menahem B et al. Journal of visceral surgery 2019 Aug -
Evaluation of a Clinical Decision Support System for the Prescription of Genetic Tests in the Gynecological Cancer Risk.
Moreno-Conde Jesús et al. Studies in health technology and informatics 2019 Aug 264704-708 -
Psychosocial and Cultural Determinants of Interest and Uptake of Skin Cancer Genetic Testing in Diverse Primary Care.
Hay Jennifer L et al. Public health genomics 2019 Aug 1-11 -
Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.
Fernandes Maria Gabriela O et al. Cancers 2019 Aug 11(9) -
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital.
Simarro Javier et al. Cancers 2019 Aug 11(8) -
Quantitative risk of positive family history in developing colorectal cancer: A meta-analysis.
Mehraban Far Parsa et al. World journal of gastroenterology 2019 Aug 25(30) 4278-4291
Chronic Disease
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A Deep Learning-Based Approach for Gait Analysis in Huntington Disease.
Zhang Shisheng et al. Studies in health technology and informatics 2019 Aug 264477-481 -
Practical considerations for APOL1 genotyping in the living kidney donor evaluation.
Mena-Gutierrez Alejandra M et al. Transplantation 2019 Aug -
Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms.
Ramond Francis et al. Molecular genetics & genomic medicine 2019 Aug e881 -
The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications.
Gossye Helena et al. Frontiers in neuroscience 2019 13757
Ethics/Policy/Law
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Public Views on Models for Accessing Genomic and Health Data for Research: Mixed Methods Study.
Jones Kerina H et al. Journal of medical Internet research 2019 Aug 21(8) e14384 -
Important Considerations in Modeling the Cost-Effectiveness for the First Food and Drug Administration-Approved Gene Therapy and Implications for Future One-Time Therapies.
Buessing Marric et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Aug 22(8) 970-971 -
Genetic oncology testing is complex, but coverage and reimbursement don't have to be.
James L Patrick et al. The American journal of managed care 2019 Aug 25(9 Spec No.) SP288-SP289 -
Application of Economic Evaluation to Assess Feasibility for Reimbursement of Genomic Testing as Part of Personalized Medicine Interventions.
Simeonidis Stavros et al. Frontiers in pharmacology 2019 10830
Practice
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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema Ivo F A C et al. Human mutation 2019 Aug -
Examining genetic counselors' implicit attitudes toward disability.
Gould Helen et al. Journal of genetic counseling 2019 Aug
Heart, Lung, Blood and Sleep Diseases
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An overview of inherited factor VII deficiency.
Robinson K Sue et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019 Aug -
Assessment of the information sources and interest in research collaboration among individuals with Vascular Ehlers-Danlos Syndrome.
Shalhub Sherene et al. Annals of vascular surgery 2019 Aug -
Update on Familial Hypercholesterolemia: Diagnosis, Cardiovascular Risk, and Novel Therapeutics.
Lee Sang Hak et al. Endocrinology and metabolism (Seoul, Korea) 2017 Mar 32(1) 36-40 -
Correlates of successful transition in young adults with sickle cell disease.
Darbari Isha et al. Pediatric blood & cancer 2019 Aug e27939
Pharmacogenomics
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Risk versus benefit of chemoprevention among raloxifene and tamoxifen users with a family history of breast cancer.
Anderson Chelsea et al. Cancer prevention research (Philadelphia, Pa.) 2019 Aug -
The ImPreSS Trial: Implementation of Point-of-Care Pharmacogenomic Decision Support in Perioperative Care.
Truong Tien M et al. Clinical pharmacology and therapeutics 2019 Aug -
Pharmacogenetics of statins treatment: Efficacy and safety.
Guan Zi-Wan et al. Journal of clinical pharmacy and therapeutics 2019 Aug -
Using Pharmacogenomic Testing in Primary Care: Protocol for a Pilot Randomized Controlled Study.
Manzor Mitrzyk Beatriz et al. JMIR research protocols 2019 Aug 8(8) e13848 -
Potential role of pharmacogenomics testing in the setting of enhanced recovery pathways after surgery.
Awad Hamdy et al. Pharmacogenomics and personalized medicine 2019 12145-154 -
Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine.
Guin Debleena et al. Frontiers in pharmacology 2019 10839
Reproductive Health
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No. 365-Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis.
Fallet-Bianco Catherine et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Oct 40(10) 1358-1366.e5