Published on 12/21/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Victor D Armengol et al. Neurol Clin Pract 2023 14(1) e200224 -
QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.
Tianxin Pan et al. Health Qual Life Outcomes 2023 21(1) 132
Cancer Genomics
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Incorporating a Prognostic Gene Expression Profile Test into the Management of Cutaneous Squamous Cell Carcinoma: An Expert Consensus Panel Report.
Danny Zakria et al. J Drugs Dermatol 2023 22(12) 7691 -
HER2/ERBB2 copy number analysis by targeted next-generation sequencing in breast cancer.
Daniel Xia et al. Am J Clin Pathol 2023 -
Cost-Effectiveness of Comprehensive Genomic Profiling in Patients With Non-Small Cell Lung Cancer for the Colombian Health System.
Oscar Gamboa et al. Value Health Reg Issues 2023 39115-125 -
Prognostic gene expression profile testing to inform use of adjuvant therapy: A survey of melanoma experts.
Suzanne Fastner et al. Cancer Med 2023 -
Methylation of Septin9, SRSF1, and PAX8 in Early Screening of Colorectal Cancer in the Population Undergoing Physical Examinations.
QiongZhen Li et al. Clin Lab 2023 69(12)
Hereditary Cancer
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Direct letters to relatives at risk of hereditary cancer-study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study).
Carolina Hawranek et al. Trials 2023 24(1) 810 -
Precision cancer medicine and the doctor-patient relationship: a systematic review and narrative synthesis.
Å Grauman et al. BMC Med Inform Decis Mak 2023 23(1) 286 -
Pilot Trial of Streamlined Genetic Education and Traceback Genetic Testing in Prostate Cancer Survivors.
Marc D Schwartz et al. J Natl Compr Canc Netw 2023 21(12) 1261-1268.e14
Ethics/Policy/Law
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The ELSI Virtual Forum, 30 Years of the Genome: Integrating and Applying ELSI Research.
Caroline B Moore et al. J Law Med Ethics 2023 51(3) 661-671
Practice
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Slice Testing - Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
Jeffrey A SoRelle et al. J Mol Diagn 2023 -
Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.
Andrew Freiman et al. Am J Med Genet A 2023 -
Data from a national survey of United States primary care physicians on genetic risk scores for common disease prevention.
Charles A Brunette et al. Data Brief 2023 52109930 -
Personalized medicine in a community health system: the NorthShore experience.
Sean P David et al. Front Genet 2023 141308738 -
Returning Genetic Information About Risk for Alcohol Use Disorder to Adolescents: Findings of a Preliminary Qualitative Study of Precision Prevention.
Elissa R Weitzman et al. AJPM Focus 2023 3(1) 100153
Pharmacogenomics
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Influence of pharmacogenetics on the diversity of response to statins associated with adverse drug reactions.
Jaime I Sainz de Medrano Sainz et al. Adv Lab Med 2023 4(4) 341-352 -
Implementing a Pharmacogenomic-driven Algorithm to Guide Antiplatelet Therapy among Caribbean Hispanics: A non-randomized prospective cohort study.
Héctor Nuñez-Medina et al. medRxiv 2023 -
A Narrative Review on Pharmacogenomics in Psychiatry: Scientific Definitions, Principles, and Practical Resources.
Sara Palumbo et al. J Clin Psychopharmacol 2023 44(1) 49-56 -
Implementing pharmacogenetics in clinical trials: considerations about current methodological, ethical, and regulatory challenges.
Irene García et al. Expert Rev Clin Pharmacol 2023