Published on 10/06/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan Bo et al. Genome medicine 2022 14(1) 113 -
Current Practices for Genetic Testing in Neonatal Extracorporeal Membrane Oxygenation: Findings from a National survey.
Wild K Taylor et al. Perfusion 2022 2676591221130178 -
Impact of Genetic Testing on Hearing Interventions.
Brodie Kara D et al. The Laryngoscope 2022 -
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Liang Qiaowei et al. Clinical chemistry 2022 -
Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues.
Chad Lauren et al. Hospital pediatrics 2022 -
Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.
Liao Elizabeth N et al. JAMA network open 2022 5(9) e2233441
Cancer Genomics
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MDS-287 Genetic Landscape of Somatic Myeloid Mutations in the Presence of Rare TERT Variants and Their Relation to Myeloid Neoplasia.
Ferrer Alejandro et al. Clinical lymphoma, myeloma & leukemia 2022 22 Suppl 2S309 -
Increased expression of SYCP2 predicts poor prognosis in patients suffering from breast carcinoma.
Zheng Hongyan et al. Frontiers in genetics 2022 13922401 -
Plasma-first: accelerating lung cancer diagnosis and molecular profiling through liquid biopsy.
Garcia-Pardo Miguel et al. Therapeutic advances in medical oncology 2022 1417588359221126151 -
Cost-Effectiveness Analysis of the Oncotype DX Breast Recurrence Score Test in Node-Negative Early Breast Cancer.
Berdunov Vladislav et al. ClinicoEconomics and outcomes research : CEOR 2022 14619-633
Hereditary Cancer
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Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
Doraczynska-Kowalik Anna et al. Frontiers in genetics 2022 13941375 -
Genetic testing for patients at risk of hereditary breast and ovarian cancer.
DeTroye Alisha et al. JAAPA : official journal of the American Academy of Physician Assistants 2022 35(10) 48-52 -
The SCRIPT trial: study protocol for a randomised controlled trial of a polygenic risk score to tailor colorectal cancer screening in primary care.
Saya Sibel et al. Trials 2022 23(1) 810 -
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study.
Yang Xin et al. Journal of medical genetics 2022 -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
Lee Andrew et al. Journal of medical genetics 2022 -
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
Flaum Nicola et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
Ohneda Kinuko et al. Breast cancer (Tokyo, Japan) 2022 -
Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients.
Culver Julie O et al. Annals of surgical oncology 2022 -
Melanoma-specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in CDKN2A mutation carriers and non-carriers.
Pissa Maria et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2022
Chronic Disease
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Monogenic diabetes clinic (MDC): 3-year experience.
Rapini Novella et al. Acta diabetologica 2022 -
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
Mehta Puja R et al. Brain : a journal of neurology 2022 -
Incorporating genetics services into adult kidney disease care.
Bogyo Kelsie et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.
Ashton James J et al. Inflammatory bowel diseases 2022 -
Epigenetic aging as a biomarker of dementia and related outcomes: a systematic review.
Zhou Aoshuang et al. Epigenomics 2022
Ethics/Policy/Law
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Psychological and Ethical Challenges of Introducing Whole Genome Sequencing into Routine Newborn Screening: Lessons Learned from Existing Newborn Screening.
Ulph Fiona et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2022 1-23
Practice
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Survey of Professionals of the European Public Health Association (EUPHA) towards Direct-to-Consumer Genetic Testing.
Beccia Flavia et al. European journal of public health 2022 -
Pharmacogenomics in psychiatry - the challenge of cytochrome P450 enzyme phenoconversion and solutions to assist precision dosing.
Mostafa Sam et al. Pharmacogenomics 2022 0
Heart, Lung, Blood and Sleep Diseases
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Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria.
Hesse Reinhardt et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003324 -
Genetic Testing for Inherited Heart Disease in the Era of Next-Generation Sequencing: Now, Next, and Beyond.
Isbister Julia C et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN122003925 -
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen Marijke H et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN120002981 -
Effectiveness and safety of lanadelumab in ethnic and racial minority subgroups of patients with hereditary angioedema: results from phase 3 studies.
Craig Timothy J et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 85 -
Phenotypic screening of the ReFRAME drug repurposing library to discover new drugs for treating sickle cell disease.
Metaferia Belhu et al. Proceedings of the National Academy of Sciences of the United States of America 2022 119(40) e2210779119 -
Building research capacity for sickle cell disease in Africa: Lessons and challenges from establishing a birth cohort in Tanzania.
Nkya Siana et al. Frontiers in pediatrics 2022 10826199 -
Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.
et al. Ontario health technology assessment series 2022 22(3) 1-155 -
Telemonitoring for Cystic fibrosis patients of Bambino Gesù Children's Hospital during COVID-19.
Federici A et al. La Clinica terapeutica 2022 173(5) 440-442 -
Genetic Architecture of Acute Myocarditis and the Overlap with Inherited Cardiomyopathy.
Lota Amrit S et al. Circulation 2022
Newborn Screening
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Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.
Elkins Kathryn et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials.
Bendor-Samuel Owen Martyn et al. Archives of disease in childhood 2022 -
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.
Viall Sarah et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Pharmacogenomics
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Ensuring equity: Pharmacogenetic implementation in rural and tribal communities.
Leitch Tianna M et al. Frontiers in pharmacology 2022 13953142 -
Pharmacogenetic profiling via genome sequencing in children with medical complexity.
Pan Amy et al. Pediatric research 2022 -
Early insights from a pharmacogenomic-enriched comprehensive medication management program implementation in an adult employee population.
Keogh Murray et al. Journal of occupational and environmental medicine 2022 -
Pharmacogenomics implementation in cardiovascular disease in a highly diverse population: initial findings and lessons learned from a pilot study in United Arab Emirates.
Al-Mahayri Zeina N et al. Human genomics 2022 16(1) 42
Reproductive Health
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Expressivist objections to prenatal screening and testing: Perceptions of people living with disability.
Boardman Felicity et al. Sociology of health & illness 2022 -
Freeze all-first versus biopsy-first: A retrospective analysis of frozen blastocyst transfer cycles with preimplantation genetic testing for aneuploidy.
Yu Eun Jeong et al. PloS one 2022 17(9) e0267652