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    Genomics and Precision Health

    Explore this JAMA essay series explaining the genetic concepts and technologies underlying precision medicine to help clinicians make smarter decisions for their patients.

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    • Prescribing Prevalence of Medications With Potential Genotype-Guided Dosing in Pediatric Patients
      JAMA Network Open
      Research
      December 14, 2020

      This cross-sectional study assesses potential opportunities for genotype-guided prescribing in pediatric populations among multiple health systems by examining the prevalence of prescriptions for each drug with the highest level of evidence and estimating the prevalence of potentially actionable prescribing decisions.

      Clinical Pharmacy and Pharmacology Genetics and Genomics Pharmacoepidemiology Pharmacy and Clinical Pharmacology Pediatrics
      Full Text | pdf link PDF open access
    • Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
      JAMA Psychiatry
      Research
      December 1, 2020

      This cohort study evaluates the suitability of including pathogenic copy number variants associated with neuropsychiatric disorders in population screening by determining their prevalence and penetrance and exploring the personal utility of disclosing results.

      Genetics and Genomics Psychiatry and Behavioral Health
      Full Text | pdf link PDF open access
    • Genetic Ancestry Testing: What Is It and Why Is It Important?
      JAMA
      Review
      March 17, 2020

      This Genomics and Precision Health article explains how genetic testing is used to identify the probable geographic origins of one’s ancestors and how it can aid in risk assessment for some heritable conditions, and summarizes the contexts in which its information provides clinically relevant information.

      Genetics and Genomics
      Full Text | pdf link PDF
    • Bringing Personalized Medicine to Precision Medicine in Gastroesophageal Cancer
      JAMA Network Open
      Opinion
      February 14, 2020
      Cancer Biomarkers Esophageal Cancer Esophageal Disease Gastroenterology Gastrointestinal Cancer
      Full Text | pdf link PDF open access
    • Evaluation of the Association of Perioperative UGT1A1 Genotype–Dosed gFOLFIRINOX With Margin-Negative Resection Rates and Pathologic Response Grades Among Patients With Locally Advanced Gastroesophageal Adenocarcinoma: A Phase 2 Clinical Trial
      JAMA Network Open
      Research
      February 14, 2020

      This phase 2 trial evaluates the coprimary end points of margin-negative (R0) resection rates and pathologic response grades of gFOLFIRINOX (fluorouracil, leucovorin, oxaliplatin, and UGT1A1 genotype-directed irinotecan) therapy among patients with locally advanced gastroesophageal adenocarcinoma.

      Cancer Biomarkers Esophageal Cancer Esophageal Disease Gastroenterology Gastrointestinal Cancer
      Full Text | pdf link PDF open access
    • Assessment of Clinical Activity of PD-1 Checkpoint Inhibitor Combination Therapies Reported in Clinical Trials
      JAMA Network Open
      Research
      February 12, 2020

      This cross-sectional study uses data from clinical trials to identify optimal strategies for combining programmed cell death 1 (PD-1) checkpoint inhibitors with other cancer therapies for patients with cancer who do not respond to PD-1 inhibitor monotherapy.

      Targeted and Immune Cancer Therapy Oncology
      Full Text | pdf link PDF open access
    • Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations
      JAMA
      Review
      October 1, 2019

      This Genomics and Precision Health update explains the importance of large and diverse reference populations in human genome databases to more accurately report allele frequencies of rare variants.

      Cardiology Genetics and Genomics Hypertension Dyslipidemia Cardiovascular Risk Factors
      Full Text | pdf link PDF
    • What Are Polygenic Scores and Why Are They Important?
      JAMA
      Review
      May 14, 2019

      This Genomics and Precision Health article explains the use and interpretation of polygenic risk scores for determining disease risk and emphasizes the gap between widespread availability of direct-to-consumer (DTC) genetic testing and the near absence of evidence validating the scores in clinical populations and demonstrating associations with the ability to improve clinical outcomes via interventions.

      Genetics and Genomics
      Full Text | pdf link PDF
    • Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers
      JAMA Network Open
      Research
      April 26, 2019

      This diagnostic study examines next-generation sequencing technologies and their application to the molecular profiling of refractory or relapsed cancers in children and adolescents.

      Adolescent Medicine Pediatric Cancer Genetics and Genomics Targeted and Immune Cancer Therapy Oncology
      Full Text | pdf link PDF open access
    • Application of a Neural Network Whole Transcriptome–Based Pan-Cancer Method for Diagnosis of Primary and Metastatic Cancers
      JAMA Network Open
      Research
      April 26, 2019

      This cross-sectional diagnostic study evaluates the accuracy of a machine learning method that uses the whole transcriptome to identify gene markers in primary and metastatic tumors.

      Genetics and Genomics Oncology Cancer Genetics Health Informatics Pathology and Laboratory Medicine
      Full Text | pdf link PDF open access
    • Next-Generation Sequencing of Infectious Pathogens
      JAMA
      Review
      March 5, 2019

      This JAMA Genomics and Precision Health article explains how next-generation sequencing can be used to identify pathogens and provide insights into disease transmission, virulence, and antimicrobial resistance.

      Genetics and Genomics Infectious Diseases
      Full Text | pdf link PDF free has multimedia with quiz
    • The Ethics of Heritable Genome Editing: New Considerations in a Controversial Area
      JAMA
      Opinion
      December 25, 2018

      This Viewpoint about heritable genome editing–the modification of DNA of an embryo, sperm, or egg to alter its characteristics for future generations–summarizes the 2018 Nuffield Council on Bioethics report on social and ethical issues raised by the technique, and questions its rejection of a distinction between gene editing for therapeutic vs feature enhancement purposes.

      Genetics and Genomics Ethics
      Full Text | pdf link PDF
    • Sequencing of Tumor DNA to Guide Cancer Risk Assessment and Therapy
      JAMA
      Review
      April 10, 2018

      This Genomics and Precision Health article reviews clinical applications of tumor DNA sequencing to direct treatment of melanoma and of myeloid, lung, and colorectal cancers.

      Colorectal Cancer Dermatology Gastrointestinal Cancer Genetics and Genomics Melanoma
      Full Text | pdf link PDF
    • Treating Specific Variants Causing Cystic Fibrosis
      JAMA
      Review
      December 5, 2017

      This JAMA Insights article explains how precision health, which uses mechanistic insights to treat individual patients based on their unique abnormalities, can treat variants causing cystic fibrosis.

      Adolescent Medicine Gastroenterology Pancreatic Disease Pediatrics Pulmonary Medicine
      Full Text | pdf link PDF has multimedia with quiz
    • Cancer DNA in the Circulation: The Liquid Biopsy
      JAMA
      Review
      October 3, 2017

      This JAMA Insights article explains cell-free circulating tumor DNA and its utility in noninvasive cancer detection and characterization, prediction of treatment response, monitoring of disease relapse, and identification of mechanisms of resistance to targeted therapies.

      Cancer Biomarkers Targeted and Immune Cancer Therapy Oncology Surgical Oncology Pathology and Laboratory Medicine
      Full Text | pdf link PDF has multimedia with quiz
    • Preimplantation Genetic Diagnosis for Mendelian Conditions
      JAMA
      Review
      September 5, 2017

      This JAMA Insights article explains how preimplantation genetic diagnosis can help reduce the risk of inherited genetic conditions among newborns.

      Genetics and Genomics Neonatology Pediatrics Pregnancy Assisted Reproduction
      Full Text | pdf link PDF has multimedia
    • Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing
      JAMA
      Review
      July 25, 2017

      This JAMA Insights article explains process of cascade screening for familial hypercholesterolemia and its efficacy in reducing risk of atherosclerotic cardiovascular disease.

      Cardiology Genetics and Genomics Dyslipidemia Cardiovascular Risk Factors
      Full Text | pdf link PDF has multimedia with quiz
    • Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders
      JAMA
      Review
      June 27, 2017

      This Genomics and Precision Health article discusses the advantages of chromosomal microarray analysis over G-banded karotyping for evaluating neurodevelopmental disorders in children.

      Child Development Genetics and Genomics Neurology Pediatrics Psychiatry and Behavioral Health
      Full Text | pdf link PDF has multimedia
    • Introducing “Genomics and Precision Health”
      JAMA
      Opinion
      May 9, 2017
      Genetics and Genomics
      Full Text | pdf link PDF free has multimedia
    • Finding the Rare Pathogenic Variants in a Human Genome
      JAMA
      Review
      May 9, 2017

      This Genomics and Precision Health essay discusses the risks and potential benefits of performing genome sequencing in healthy people.

      Genetics and Genomics
      Full Text | pdf link PDF has multimedia
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