Published on 06/18/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Pediatric genetics: rare is common.
Gunter Chris et al. Cold Spring Harbor molecular case studies 2020 Jun 6(3) -
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro Mathieu et al. The Journal of allergy and clinical immunology 2020 Jun -
Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Alsubaie Lamia et al. Annals of human genetics 2020 Jun -
Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease.
Benedetti Valerio et al. Methods in molecular biology (Clifton, N.J.) 2020 215259-75
Cancer
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Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
Giri Veda N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Jun JCO2000046 -
A signature of 14 immune-related gene pairs predicts overall survival in gastric cancer.
Zhao E et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2020 Jun -
Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
Sim Wey Cheng et al. Experimental and molecular pathology 2020 Jun 104483 -
Implementation and evaluation of a nurse-led decision-coaching program for healthy breast cancer susceptibility gene (BRCA1/2) mutation carriers: a study protocol for the randomized controlled EDCP-BRCA study.
Isselhard A et al. Trials 2020 Jun 21(1) 501 -
The 17-Gene Genomic Prostate Score Test as a Predictor of Outcomes in Men with Unfavorable Intermediate Risk Prostate Cancer.
Cullen Jennifer et al. Urology 2020 Jun -
Shallow Whole-Genome Sequencing from Plasma Identifies FGFR1 Amplified Breast Cancers and Predicts Overall Survival.
Bourrier Chantal et al. Cancers 2020 Jun 12(6) -
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez Carolina et al. Journal of translational medicine 2020 Jun 18(1) 232 -
Propensity score analysis of the prognostic value of genomic assays for breast cancer in diverse populations using the National Cancer Data Base.
Ibraheem Abiola et al. Cancer 2020 Jun -
Beneficial Molecular Adaptations In BRCA -Mutation Carriers By Combined HIT/HIRT Intervention: Results From A Pilot Study.
Bizjak Daniel A et al. Cancers 2020 Jun 12(6) -
BRCA immunohistochemistry for screening of BRCA mutation in epithelial ovarian cancer patients.
Manchana Tarinee et al. Gynecologic oncology reports 2020 Aug 33100582 -
Adherence to National Comprehensive Cancer Network Guidelines for BRCA testing among high risk breast Cancer patients: a retrospective chart review study.
Bobbili Priyanka et al. Hereditary cancer in clinical practice 2020 1813 -
Improving primary care identification of familial breast cancer risk using proactive invitation and decision support.
Qureshi Nadeem et al. Familial cancer 2020 Jun -
Circulating Tumor DNA as a Preoperative Marker of Recurrence in Patients with Peritoneal Metastases of Colorectal Cancer: A Clinical Feasibility Study.
Beagan Jamie J et al. Journal of clinical medicine 2020 Jun 9(6) -
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Burn John et al. Lancet (London, England) 2020 Jun 395(10240) 1855-1863 -
Updates in hereditary breast cancer genetic testing and practical high risk breast management in gene carriers.
Pederson Holly J et al. Seminars in oncology 2020 May -
Implications of Hereditary Origin on the Immune Phenotype of Mismatch Repair-Deficient Cancers: Systematic Literature Review.
Bohaumilitzky Lena et al. Journal of clinical medicine 2020 Jun 9(6)
Ethics/Policy/Law
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Professional duties are now considered legal duties of care within genomic medicine.
Anna Middleton et al. European journal of human genetics : EJHG 2020 Jun -
The Ethics of Precision Rationing: Human Genetics and the Need for Debate on Stratifying Access to Medication.
Walker Alexis et al. Public health genomics 2020 Jun 1-5
Heart, Lung, Blood and Sleep Diseases
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Can genetic testing help in the management of dyslipidaemias?
Lazarte Julieta et al. Current opinion in lipidology 2020 Jun -
Advances in Sickle Cell Disease Treatments.
Pavan Aline Renata et al. Current medicinal chemistry 2020 Jun -
Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.
Muller Reka D et al. Circulation. Genomic and precision medicine 2020 Jun -
Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases.
Thijssen Carlijn G E et al. Journal of genetic counseling 2020 Jun -
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo Olga et al. American heart journal 2020 Apr 226114-126 -
Trends in the Development of Diagnostic Tools for Red Blood Cell-Related Diseases and Anemias.
Kaestner Lars et al. Frontiers in physiology 2020 11387 -
Family history of cardiovascular disease and risk of premature coronary heart disease: A matched case-control study.
Chacko Manas et al. Wellcome open research 2020 570 -
Inherited thrombocytopenias: history, advances and perspectives.
Nurden Alan T et al. Haematologica 2020 Jun -
Homozygous familial hypercholesterolaemia: New hope for getting patients to goal?
Stock Jane K et al. Atherosclerosis 2020 May -
Use of a Polygenic Risk Score Improves Prediction of Myocardial Injury after Non-cardiac Surgery.
Douville Nicholas J et al. Circulation. Genomic and precision medicine 2020 Jun -
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu Thierry et al. Genes 2020 Jun 11(6) -
Health economic evaluation of screening and treating children with familial hypercholesterolemia early in life: Many happy returns on investment?
Ademi Zanfina et al. Atherosclerosis 2020 May 3041-8
Newborn Screening
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Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.
Fuller Maria et al. The Clinical biochemist. Reviews 2020 May 41(2) 53-66 -
The limited use of US residual newborn screening dried bloodspots for health disparity research.
Riches Naomi O et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun
Pharmacogenomics
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Cost avoidance related to a pharmacist-led pharmacogenomics service for the Program of All-inclusive Care for the Elderly.
et al. Pharmacogenomics 2020 Jun -
Pharmacogenomic Biomarkers in Allergy and Immunology Practice.
Khan David A et al. The Journal of allergy and clinical immunology 2020 Jun -
Pharmacogenetic considerations when prescribing cholinesterase inhibitors for the treatment of Alzheimer's disease.
Cacabelos Ramón et al. Expert opinion on drug metabolism & toxicology 2020 Jun -
Rural Community Perceptions and Interests in Pharmacogenomics.
Stegelmeier John et al. Healthcare (Basel, Switzerland) 2020 Jun 8(2) -
Understanding pharmacogenomic testing and its role in medicine prescribing.
Youssef Essra et al. Nursing standard (Royal College of Nursing (Great Britain) : 1987) 2020 Jun -
Combinatorial PharmacogenomicTesting Improves Outcomes for Older Adults With Depression.
Forester Brent P et al. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2020 May -
Global frequencies of clinically important HLA alleles and their implications for the cost-effectiveness of preemptive pharmacogenetic testing.
Zhou Yitian et al. Clinical pharmacology and therapeutics 2020 Jun -
Clinical implementation of pharmacogenetics and model-informed precision dosing to improve patient care.
Mizuno Tomoyuki et al. British journal of clinical pharmacology 2020 Jun
Reproductive Health
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Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.
Kosinski Przemyslaw et al. Journal of clinical medicine 2020 Jun 9(6) -
Preimplantation genetic testing to reduce preterm births in assisted reproductive technology.
Simpson Joe L et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2020 Jul 150(1) 34-40 -
Patient perspectives and experiences with in vitro fertilization and genetic testing options.
Rothwell Erin et al. Therapeutic advances in reproductive health 142633494119899942 -
Cell-free DNA testing for prenatal aneuploidy assessment: an analysis of international professional society statements.
Jones R et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Jun -
Non-invasive prenatal testing: A diagnostic innovation shaped by commercial interests and the regulation conundrum.
Löwy Ilana et al. Social science & medicine (1982) 2020 May 113064 -
Genetic testing on products of conception and its relationship with body mass index.
Wang Linlin et al. Journal of assisted reproduction and genetics 2020 Jun