Published on 06/03/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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The socioeconomic burden of facioscapulohumeral muscular dystrophy.
Blokhuis Anna M et al. Journal of neurology 2021 -
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care.
Crawford Samuel A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
Bowen B Monica et al. Frontiers in neurology 2021 12663911 -
Clinical application of whole-exome sequencing: A retrospective, single-center study.
Zhang Qiang et al. Experimental and therapeutic medicine 2021 22(1) 753 -
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Heron Sarah E et al. Neurology 2021 96(18) e2251-e2260 -
Diagnostic and clinical utility of genetic testing in children with kidney failure.
Chen Jing et al. Pediatric nephrology (Berlin, Germany) 2021 -
Implementing Rapid Whole Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption.
Franck Linda S et al. The Journal of pediatrics 2021
Cancer Genomics
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Association Between Medicare's National Coverage Determination and Utilization of Next-Generation Sequencing.
Sheinson Daniel M et al. JCO oncology practice 2021 OP2001023 -
The MicroRNA Landscape of MYCN-Amplified Neuroblastoma.
Misiak Danny et al. Frontiers in oncology 2021 11647737 -
Long-Term Outcomes in a Multicenter, Prospective Cohort Evaluating the Prognostic 31-Gene Expression Profile for Cutaneous Melanoma.
Hsueh Eddy C et al. JCO precision oncology 2021 5 -
Impact of a 40-Gene Targeted Panel Test on Physician Decision Making for Patients With Acute Myeloid Leukemia.
Barnell Erica K et al. JCO precision oncology 2021 5 -
NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.
Zhao Xiaonan et al. JCO precision oncology 2021 1 -
GPS Assay Association With Long-Term Cancer Outcomes: Twenty-Year Risk of Distant Metastasis and Prostate Cancer-Specific Mortality.
Brooks Michael A et al. JCO precision oncology 2021 5
Hereditary Cancer
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European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.
Seppälä T T et al. The British journal of surgery 2021 108(5) 484-498 -
Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.
Domchek Susan M et al. JAMA oncology 2021 -
Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing.
Hughes Elisha et al. JCO precision oncology 2021 5 -
The costs and benefits of risk-stratification for colorectal cancer screening based on phenotypic and genetic risk: a health economic analysis.
Thomas Chloe et al. Cancer prevention research (Philadelphia, Pa.) 2021 -
Fear of cancer recurrence in patients undergoing germline genome sequencing.
Bartley Nicci et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2021 -
Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.
Doddato Gabriella et al. Frontiers in oncology 2021 11649435 -
Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes.
Bramanti Sonia Monique et al. World journal of psychiatry 2021 11(5) 189-200 -
Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience.
Lu Kit et al. Cureus 2021 13(4) e14637 -
Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis.
Lin Jenny et al. Gynecologic oncology 2021
Chronic Disease
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Monogenic Diabetes and Integrated Stress Response Genes Display Altered Gene Expression in Type 1 Diabetes.
Hiller Helmut et al. Diabetes 2021
Ethics/Policy/Law
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'That would be dreadful': The ethical, legal, and social challenges of sharing your Alzheimer's disease biomarker and genetic testing results with others.
Largent Emily A et al. Journal of law and the biosciences 2021 8(1) lsab004
Practice
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Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing.
Haas Cameron B et al. Health policy and technology 2021 10(2) -
Exploring the Role of Community Health Workers in Improving the Collection of Family Health History: A Pilot Study.
Allen Caitlin G et al. Health promotion practice 2021 15248399211019980 -
In-vivo design feedback and perceived utility of a genetically-informed smoking risk tool among current smokers in the community.
Bourdon Jessica L et al. BMC medical genomics 2021 14(1) 139 -
Identifying Aspects of Public Attitudes Toward Whole Genome Sequencing to Inform the Integration of Genomics into Care.
Etchegary Holly et al. Public health genomics 2021 1-12 -
The Role of Electronic Health Records in Advancing Genomic Medicine.
Linder Jodell E et al. Annual review of genomics and human genetics 2021 -
Modernizing family health history: achievable strategies to reduce implementation gaps.
Wildin Robert S et al. Journal of community genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Paternal Stress and Child Outcomes in Youth with Sickle Cell Disease.
Moody Kendall L et al. Journal of pediatric psychology 2021 -
A simple core dataset and disease severity score for hereditary transthyretin (ATTRv) amyloidosis.
Damy Thibaud et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2021 1-10 -
A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia.
Ajufo Ezimamaka et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Cost-effectiveness of a hypothetical cell or gene therapy cure for sickle cell disease.
Salcedo Jonathan et al. Scientific reports 2021 11(1) 10838 -
Inadequate community knowledge about sickle cell disease among the Indian tribal population: a formative assessment in a multicentric intervention study.
Babu Bontha V et al. Transactions of the Royal Society of Tropical Medicine and Hygiene 2021 -
Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death.
Scrocco Chiara et al. Nature reviews. Cardiology 2021 -
Clinical utility gene card for: Long-QT syndrome.
Beckmann Britt M et al. European journal of human genetics : EJHG 2021 -
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm Amy C et al. JAMA cardiology 2021 -
Patient Perspectives Regarding Genetic Testing for Familial Hypercholesterolemia.
Marchand Miles et al. CJC open 2021 3(5) 557-564 -
Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.
Watts Gerald F et al. Internal medicine journal 2021 51(5) 769-779 -
Prediction of hemophilia A severity using a small-input machine-learning framework.
Lopes Tiago J S et al. NPJ systems biology and applications 2021 7(1) 22
Newborn Screening
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Measuring Women's Choices Regarding Use of Their Newborns' Residual Dried Blood Samples in Research.
Eisenhauer Elizabeth R et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN 2021
Pharmacogenomics
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Machine Learning for Pharmacogenomics and Personalized Medicine: A Ranking Model for Drug Sensitivity Prediction.
Sotudian Shahabeddin et al. IEEE/ACM transactions on computational biology and bioinformatics 2021 PP -
Pharmacogenomics in the United States Community Pharmacy Setting: The Clopidogrel-CYP2C19 Example.
Kisor David F et al. Pharmacogenomics and personalized medicine 2021 14569-577 -
Conference report: inaugural Pharmacogenomics Access and Reimbursement Symposium.
Rogers Sara L et al. Pharmacogenomics 2021 -
Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.
Cohn Iris et al. JAMA network open 2021 4(5) e2110446 -
Toward personalized medicine in schizophrenia: Genetics and epigenetics of antipsychotic treatment.
Lisoway Amanda J et al. Schizophrenia research 2021 232112-124 -
Pharmacogenetic-guided treatment of depression: real-world clinical applications, challenges and perspectives.
Zanardi Raffaella et al. Clinical pharmacology and therapeutics 2021 -
Pharmacogenetics of bleeding and thromboembolic events in direct oral anticoagulant users.
Lähteenmäki Jaakko et al. Clinical pharmacology and therapeutics 2021
Reproductive Health
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Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders.
Qi Qi-Ge et al. International journal of general medicine 2021 141811-1817 -
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies.
Lenaerts Liesbeth et al. EClinicalMedicine 2021 35100856