Initial genomewide association studies were exceptional owing to an ability to yield novel and reliable evidence for heritable contributions to complex disease and phenotype. However the top results alone were certainly not responsible for a wave of new predictive tools. Despite this, even studies small by contemporary standards were able to provide estimates of the relative contribution of all recorded genetic variants to outcome. Sparking efforts to quantify heritability, these results also provided the material for genomewide prediction. A fantastic growth in the performance of human genetic studies has only served to improve the potential of these complex, but potentially informative predictors. Prompted by these conditions and recent work, this letter explores the likely utility of these predictors, considers how clinical practice might be altered through their use, how to measure the efficacy of this and some of the potential ethical issues involved. Ultimately we suggest that for common genetic variation at least, the future should contain an acceptance of complexity in genetic architecture and the possibility of useful prediction even if only to shift the way we interact with clinical service providers.
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http://dx.doi.org/10.12688/wellcomeopenres.14870.1 | DOI Listing |
Int J Immunogenet
January 2025
Department of Clinical Haematology and Medical Oncology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
High degree of variability in human leukocyte antigens (HLAs) system restricts availability of histocompatible HLA-matched-related donors, thus increasing reliance on worldwide bone marrow registries network. Nevertheless, due to limited coverage/accessibility/affordability of some ethnicities in these registries, haploidentical haematopoietic stem cell transplantation (HSCT) emerged as an alternative option, though with allorecognition-mediated graft versus host disease (GvHD) (>40% cases). A dimorphism [-21 methionine (M) or threonine (T)] in HLA-B leader peptide (exon 1) which differentially influences its HLA-E binding, plausibly regulates natural killer cell functionality, affecting GvHD vulnerability and clinically in practice for donor selection.
View Article and Find Full Text PDFJ Adv Nurs
January 2025
Nursing Practice Development Unit, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia.
Aims: To evaluate the implementation process of a novel program focused on improving interactive (dialogic) feedback between clinicians and students during placement.
Design: Quantitative cross-sectional hybrid type 3 effectiveness-implementation study driven by a federated model of social learning theory and implementation theory.
Methods: From June to November 2018, feedback approaches supported by socio-constructive learning theory and Normalisation Process Theory were enacted in four clinical units of a healthcare facility in southeast Queensland, Australia.
Aim: To discuss inter-organisational collaboration in the context of the successful COVID-19 vaccination programme in North Central London (NCL).
Design: An action research study in 2023-2024.
Methods: Six action research cycles used mixed qualitative methods.
Aust Vet J
January 2025
North Shore Veterinary Specialist & Emergency Centre, Artarmon, New South Wales, Australia.
Objectives: To identify if chemotherapeutic drugs in the CHOP-based protocol led to an increase in renal parameters in dogs with lymphoma during therapy and investigate whether factors such as prednisolone use or age affected this result.
Methods: Data were obtained retrospectively from private referral practice records of dogs diagnosed with lymphoma receiving a CHOP-based chemotherapy protocol between 2015 and 2019. Dogs included received a CHOP-based protocol as their first treatment, received four full cycles and were in remission at the end of the protocol.
Otolaryngol Head Neck Surg
January 2025
Department of Otolaryngology-Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan, USA.
Objective: Evaluate inpatient audiometry on clinical decision-making. Assess stakeholder perspectives on the practice of inpatient audiometry and financial impact.
Study Design: This is a mixed methods study utilizing retrospective chart review, a focus group, and financial analyses.
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