Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience. Aquilante Christina L et al. Pharmacogenomics 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

---

• Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience.
  Aquilante Christina L et al. Pharmacogenomics 2020 Feb
• Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists.
  Meloche Maxime et al. Pharmacogenomics 2020 Feb
• Pharmacogenomics in pregnancy.
  Betcher Hannah K et al. Seminars in perinatology 2020 Jan 151222
• Pharmacogenomics: Introduction and Use in Clinical Practice.
  Saunders Hollie et al. Romanian journal of internal medicine = Revue roumaine de medecine interne 2020 Feb
• FDA Announces Collaborative Review of Scientific Evidence to Support Associations Between Genetic Information and Specific Medications
  FDA, February 20, 2020
• Table of Pharmacogenetic Associations
  FDA, February 20, 2020
• Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice.
  Anandi Prathima et al. The pharmacogenomics journal 2020 Feb
• Cost-effectiveness of CYP2C19-guided antiplatelet therapy in patients with acute coronary syndrome and percutaneous coronary intervention informed by real-world data.
  Limdi Nita A et al. The pharmacogenomics journal 2020 Feb
• Pain Management Using Clinical Pharmacy Assessments With and Without Pharmacogenomics in an Oncology Palliative Medicine Clinic.
  Patel Jai N et al. JCO oncology practice 2020 Feb 16(2) e166-e174
• [Perspectives of the use of pharmacogenetic tests in neurology and psychiatry].
  Kostyuk G P et al. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2019 119(9) 131-135

more

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field. Yanes Tatiane et al. Breast cancer research : BCR 2020 Feb 22(1) 21

Hot Topics of the Day|PHGKB


Last Posted: Feb 26, 2020

---

• Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
  Yanes Tatiane et al. Breast cancer research : BCR 2020 Feb 22(1) 21
• Genome-Wide Polygenic Score and Cardiovascular Outcomes With Evacetrapib in Patients With High-Risk Vascular Disease: A Nested Case-Control Study.
  Emdin Connor A et al. Circulation. Genomic and precision medicine 2020 Feb (1) e002767
• Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease?
  SS Khan et al, JAMA Editorial, February 18, 2020
• Opportunities and Challenges for Polygenic Risk Scores in Prognostication and Prevention of Cardiovascular Disease
  CJ O'Donnell, JAMA Cardiology, February 12, 2020
• Promises and perils of using genetic tests to predict risk of disease
  IA Scott et al, BMJ, February 2020
• Integration of polygenic risk scores with modifiable risk factors improves risk prediction: results from a pan-cancer analysis
  BioRXIV, January 30, 2020
• Predicting Atrial Fibrillation using a Combination of Genetic Risk Score and Clinical Risk Factors.
  Okubo Yousaku et al. Heart rhythm 2020 Jan
• Development of Statistical, Population Genetics and Computational Methods Related to Polygenic Prediction of Health and Disease in Diverse Populations
  Notice of Special Interest, January 13, 2020
• Polygenic Risk, Fitness, and Obesity in the Coronary Artery Risk Development in Young Adults (CARDIA) Study
  VL Murthy et al, JAMA Cardiology, January 8, 2020
• A Genetic Risk Score for the Estimation of Weight Loss After Bariatric Surgery.
  Katsareli E A et al. Obesity surgery 2020 Jan

more

Diagnosis and management of hereditary haemochromatosis. Murphree Catherine R et al. Vox sanguinis 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 26, 2020

---

• Diagnosis and management of hereditary haemochromatosis.
  Murphree Catherine R et al. Vox sanguinis 2020 Feb
• Hereditary Hemochromatosis: Are We Ready for Population Screening?
  CDC Seminar, January 15, 2019
• Diagnosis and Management of Genetic Iron Overload Disorders.
  Palmer William C et al. Journal of general internal medicine 2018 33(12) 2230-2236
• Correction: ACG Clinical Guideline: Hereditary Hemochromatosis.
  Kowdley Kris V et al. The American journal of gastroenterology 2019 Nov
• Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
  Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003
• Cardiac iron overload following liver transplantation in patients without hereditary hemochromatosis or severe hepatic iron deposition.
  Papadodima Stavroula et al. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 407-11
• ACG Clinical Guideline: Hereditary Hemochromatosis.
  Kowdley Kris V et al. The American journal of gastroenterology 2019 Jul
• Iron Overload in an HFE Heterozygous Carrier: A Case Report and Literature Review.
  Turbiville Donald et al. Laboratory medicine 2019 Apr 50(2) 212-217
• Hemochromatosis: Hereditary hemochromatosis and HFE gene.
  Katsarou Martha-Spyridoula et al. Vitamins and hormones 2019 110201-222
• Are you the one in 200 with haemochromatosis?

more

Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing. Amor David J et al. Prenatal diagnosis 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 26, 2020

---

• Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
  Amor David J et al. Prenatal diagnosis 2020 Feb
• Disclosure of Genetic Risk Revealed in a Research Study.
  Castellanos Angela et al. The New England journal of medicine 2020 Feb (8) 763-765
• Why genomics researchers are sometimes morally required to hunt for secondary findings.
  Koplin Julian J et al. BMC medical ethics 2020 Jan 21(1) 11
• Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.
  Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec
• Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
  Blom Maartje et al. Frontiers in immunology 2019 102438
• Returning incidental findings in African genomics research.
  Wonkam Ambroise et al. Nature genetics 2019 Nov
• Machine Learning by Ultrasonography for Genetic Risk Stratification of Thyroid Nodules.
  Daniels Kelly et al. JAMA otolaryngology-- head & neck surgery 2019 Oct 1-6
• Media Coverage of Ethical Issues in Predictive Genetic Testing: A Qualitative Analysis.
  Zimmermann Bettina et al. AJOB empirical bioethics 2019 Oct 1-15
• Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice
  LM Ballard et al, Eur J Humn Genetics, September 16, 2019
• Genome sequencing in healthcare: understanding the UK general public's views and implications for clinical practice.
  Ballard Lisa M, et al. European journal of human genetics : EJHG 2019 9 0.

more

Screening for chronic conditions with reproductive factors using a machine learning based approach. Tian Siyu et al. Scientific reports 2020 Feb 10(1) 2848

Hot Topics of the Day|PHGKB


Last Posted: Feb 26, 2020

---

• Comparing an artificial neural network to logistic regression for predicting ED visit risk among patients with cancer: a population-based cohort study.
  Sutradhar Rinku et al. Journal of pain and symptom management 2020 Feb
• Screening for chronic conditions with reproductive factors using a machine learning based approach.
  Tian Siyu et al. Scientific reports 2020 Feb 10(1) 2848
• Development and Validation of a Machine Learning Individualized Treatment Rule in First-Episode Schizophrenia.
  Wu Chi-Shin et al. JAMA network open 2020 Feb 3(2) e1921660
• Development of an early-warning system for high-risk patients for suicide attempt using deep learning and electronic health records.
  Zheng Le et al. Translational psychiatry 2020 Feb 10(1) 72
• Initial classification of low back and leg pain based on objective functional testing: a pilot study of machine learning applied to diagnostics.
  Staartjes Victor E et al. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2020 Feb
• Machine Learning and Deep Neural Networks Applications in Coronary Flow Assessment: The Case of Computed Tomography Fractional Flow Reserve.
  Tesche Christian et al. Journal of thoracic imaging 2020 Feb
• Machine learning methods in psychiatry: a brief introduction.
  Zhou Zhirou et al. General psychiatry 2020 33(1) e100171
• Machine learning-based identification of hip arthroplasty designs.
  Kang Yang-Jae et al. Journal of orthopaedic translation 2020 Mar 2113-17
• Preparing Medical Imaging Data for Machine Learning.
  Willemink Martin J et al. Radiology 2020 Feb 192224
• The impact of long-term PM 2.5 exposure on specific causes of death: exposure-response curves and effect modification among 53 million U.S. Medicare beneficiaries.
  Wang Bingyu et al. Environmental health : a global access science source 2020 Feb 19(1) 20

more

Brief introduction of medical database and data mining technology in big data era. Yang Jin et al. Journal of evidence-based medicine 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 26, 2020

---

• Brief introduction of medical database and data mining technology in big data era.
  Yang Jin et al. Journal of evidence-based medicine 2020 Feb
• Making Informed CHOICES: The Launch of a "Big Data" Pragmatic Trial to Improve Cholesterol Management and Prevent Heart Disease in Ontario.
  Ferreira-Legere Laura E et al. Healthcare quarterly (Toronto, Ont.) 2020 Jan 22(4) 6-9
• Beyond the Artificial Intelligence Hype: What Lies Behind the Algorithms and What We Can Achieve.
  van Assen Marly et al. Journal of thoracic imaging 2020 Feb
• Big Data vs. Clinical Trials in HPB Surgery.
  de Geus Susanna W L et al. Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract 2020 Feb
• The data economy- A deluge of data is giving rise to a new economy
  The Economist, February 2020
• Big data and the eyeSmart electronic medical record system - An 8-year experience from a three-tier eye care network in India.
  Das Anthony Vipin et al. Indian journal of ophthalmology 2020 Mar 68(3) 427-432
• Clinical Trial Generalizability Assessment in the Big Data Era: A Review.
  He Zhe et al. Clinical and translational science 2020 Feb
• Tracking the spread of novel coronavirus (2019-nCoV) based on big data
  X Zhao et al, MedRXIV, February 2020
• A deep-learning-based approach for adenoid hypertrophy diagnosis.
  Shen Yi et al. Medical physics 2020 Feb
• Artificial Intelligence in Sleep Medicine: An American Academy of Sleep Medicine Position Statement.
  Goldstein Cathy A et al. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2020 Feb

more

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers. Eskes Eline C B et al. Molecular genetics and metabolism 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 27, 2020

---

• Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
  Eskes Eline C B et al. Molecular genetics and metabolism 2020 Feb
• Making Informed CHOICES: The Launch of a "Big Data" Pragmatic Trial to Improve Cholesterol Management and Prevent Heart Disease in Ontario.
  Ferreira-Legere Laura E et al. Healthcare quarterly (Toronto, Ont.) 2020 Jan 22(4) 6-9
• Aspirin for Prevention of Cardiovascular Disease
  AT Peters et al, JAMA Patient Page, February 18, 2020
• Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
  Yarmolinsky James et al. JAMA 2020 Feb 323(7) 646-655
• Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease
  M Trinder et al, JAMA Cardiology, February 11, 2020
• Autosomal recessive hypercholesterolemia: update for 2020.
  D'Erasmo Laura et al. Current opinion in lipidology 2020 Jan
• Familial hypercholesterolemia: Detect, treat, and ask about family.
  Shah Nishant P et al. Cleveland Clinic journal of medicine 2020 Feb 87(2) 109-120
• Efficacy of therapeutic lifestyle changes on lipid profiles assessed by NMR in children with familial and non-familial hypercholesterolemia.
  Rodríguez-Borjabad Cèlia et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2020 Jan
• Step aside CRISPR, RNA editing is taking off: Making changes to the molecular messengers that create proteins might offer flexible therapies for cancer, pain or high cholesterol, in addition to genetic disorders.
  S Reardon, Nature, February 4, 2020
• Familial Hypercholesterolaemia in 2020: A Leading Tier 1 Genomic Application.
  Pang Jing et al. Heart, lung & circulation 2019 Dec

more