Published on 04/18/2024
Human Genomics across the Lifespan
Cancer Genomics
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Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma.
Derk C F Klatte et al. JCO Oncol Pract 2024 OP2300447 -
Somatic Tumor Testing in Prostate Cancer: Experience of a Tertiary-Care Center Including Pathologist-Driven Reflex Testing of Localized Tumors at Diagnosis.
Susan Prendeville et al. Mod Pathol 2024 100489
Hereditary Cancer
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Clinical features of prostate cancer by polygenic risk score.
Christina Spears et al. Fam Cancer 2024 -
Uptake of screening and risk-reducing recommendations among women with hereditary breast and ovarian cancer syndrome due to pathogenic BRCA1/2 variants evaluated at a large urban comprehensive cancer center.
Hadeel Assad et al. Breast Cancer Res Treat 2024 -
Impact of Family History and Germline Genetic Risk Single Nucleotide Polymorphisms on Long-Term Outcomes of Favorable-Risk Prostate Cancer.
Florian Rumpf et al. J Urol 2024 101097JU0000000000003927
Chronic Disease
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The Significance of Screening Family Members in Glaucoma: Opportunities and Challenges.
Siddharth Bhargava et al. J Glaucoma 2024 -
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Sonya Watson et al. Neurol Genet 2024 10(3) e200133 -
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Emil K Gustavsson et al. Lancet Neurol 2024
Ethics/Policy/Law
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Benefit-Sharing by Design: A Call to Action for Human Genomics Research.
Ann M Mc Cartney et al. Annu Rev Genomics Hum Genet 2024 -
Exploration of clinical and ethical issues in an expanded newborn metabolic screening programme: a qualitative interview study of healthcare professionals in Hong Kong.
O M Y Ngan et al. Hong Kong Med J 2024
Practice
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The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?
Lauren Gima et al. Clin Colon Rectal Surg 2024 37(3) 133-139 -
A qualitative feasibility study of a prototype patient-centered video intervention to increase uptake of cancer genetic testing among Black Americans.
Katherine Clegg Smith et al. Pilot Feasibility Stud 2024 10(1) 62
Heart, Lung, Blood and Sleep Diseases
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Prevalence of elevated lipoprotein(a) in cardiac rehabilitation patients - results from a large-scale multicentre registry in Germany.
Christoph Altmann et al. Clin Res Cardiol 2024 -
Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review.
Sameerah Wahab et al. Cureus 2024 16(3) e56089 -
Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.
Dana-Teodora Anton-Paduraru et al. Diagnostics (Basel) 2024 14(7) -
Practice Patterns and Barriers to Vascular Genetic Testing among Vascular Surgeons.
James M Dittman et al. Ann Vasc Surg 2024 -
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.
Christina Johnson et al. Implement Sci 2024 19(1) 30
Pharmacogenomics
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Advanced practice nurse pharmacogenomics capacity and utilization.
Cathy R Fulton et al. J Am Assoc Nurse Pract 2024
Reproductive Health
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Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples.
Ariane J A G Van Tongerloo et al. J Genet Couns 2024 -
Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies.
María Gabriela Palacios-Verdú et al. Reprod Biomed Online 2024 48(6) 103761 -
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Britt Hanson et al. Clin Chem 2024