Published on 06/27/2024
Human Genomics across the Lifespan
Cancer Genomics
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Comparative Evaluation of Machine Learning Models for Subtyping Triple-Negative Breast Cancer: A Deep Learning-Based Multi-Omics Data Integration Approach.
Shufang Yang et al. J Cancer 2024 15(12) 3943-3957
Hereditary Cancer
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Screening guidelines for people at increased risk for prostate cancer.
Justin Lorentz et al. Can Urol Assoc J 2024 -
Healthcare Professionals' Learning Needs and Perspectives on Essential Information in Genetic Cancer Care: A Systematic Review.
Sun-Young Park et al. Cancers (Basel) 2024 16(11) -
Risk-reducing salpingo-oophorectomy among diverse patients with BRCA mutations at an urban public hospital: a mixed methods study.
Alexandra J Lamacki et al. BMJ Open 2024 14(6) e082608 -
Hereditary Cancer Clinics Improve Adherence to NCCN Germline Testing Guidelines for Pancreatic Cancer.
Claudia Rosso et al. J Natl Compr Canc Netw 2024 1-7 -
Effectiveness of colorectal cancer screening integrating non-genetic and genetic risk: a prospective study based on UK Biobank data.
Yu Zhang et al. Cancer Biol Med 2024 -
Cancer predisposing syndromes in childhood and adolescence pose several challenges necessitating interdisciplinary care in dedicated programs.
Stefanie Kaffai et al. Front Pediatr 2024 121410061 -
Cost-effectiveness of talazoparib for patients with germline BRCA1/2 mutated HER2-negative advanced breast cancer in China and the US.
Junjie Pan et al. Sci Rep 2024 14(1) 13935
Chronic Disease
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Effects of genetic risk on incident type 2 diabetes and glycemia: the T2D-GENE lifestyle intervention trial.
Maria Anneli Lankinen et al. J Clin Endocrinol Metab 2024
Ethics/Policy/Law
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Weighty Matters: Considering the Ethics of Genetic Risk Scores for Obesity.
Cassie Houtz et al. Genet Med 2024 101196 -
Comparative policy analysis of national rare disease funding policies in Australia, Singapore, South Korea, the United Kingdom and the United States: a scoping review.
Qin Xiang Ng et al. Health Econ Rev 2024 14(1) 42
Practice
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Ethical implications of disparities in translation genomic medicine: from research to practice.
Mehrunisha Suleman et al. J Med Ethics 2024 50(7) 435-436
Heart, Lung, Blood and Sleep Diseases
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Sickle cell disease and infertility risks: implications for counseling and care of affected girls and women.
Lydia H Pecker et al. Expert Rev Hematol 2024 -
A Pharmacist-Managed Hydroxyurea Prescribing Protocol Improves Uptake and Optimization among Patients with Sickle Cell Disease.
Cameron Roessner et al. Adv Hematol 2024 20244753349 -
Application of implementation science for improving the utilization of an international clinical practice guidance on familial hypercholesterolemia.
Laney K Jones et al. J Clin Lipidol 2024 -
Advancing familial hypercholesterolaemia (FH) screening in primary care: an updated systematic review of systematic screening methods for identificaton of FH.
Aya Ayoub et al. Br J Gen Pract 2024 74(suppl 1) -
The Role of Reverse Cascade Screening in Children with Familial Hypercholesterolemia: A Literature Review and Analysis.
Ryan Lokkesmoe et al. Curr Atheroscler Rep 2024 -
Familial hypercholesterolemia care by Dutch pediatricians-mind the gaps.
Sibbeliene E van den Bosch et al. Eur J Pediatr 2024 -
Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.
Steven A Muller et al. Eur J Heart Fail 2024
Newborn Screening
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Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.
Emma L Baple et al. Nat Med 2024 -
Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.
BalaSubramani Gattu Linga et al. Cancers (Basel) 2024 16(11) -
Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study.
Molly Parfett et al. Eur J Hum Genet 2024
Pharmacogenomics
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Molecular identification of HLA-B75 serotype markers by qPCR: A more inclusive pharmacogenetic approach before carbamazepine prescription.
Kanoot Jaruthamsophon et al. Clin Transl Sci 2024 17(6) e13867 -
Pharmacogenetic testing in primary care could bolster depression treatment: A value proposition.
Nina R Sperber et al. Clin Transl Sci 2024 17(6) e13837
Reproductive Health
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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Michelle Peter et al. Front Genet 2024 151401705