Dataset Information

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.

ABSTRACT:

Background

The availability and reduced cost of genotyping has improved gene susceptibility testing and our scientific understanding of disease pathophysiology. Whilst several personalised translational models exist within medical frameworks, genetic-based surgical therapy is a translational application not widely used in surgical specialties.

Method

We present a clinical series of five patients with genetically confirmed bestrophinopathy and malignant glaucoma (MG). Patients were followed up for 12 months or more after receiving surgical intervention to manage refractory intraocular pressure (IOP) resistant to medical treatment.

Findings

Patients with BEST1 gene mutations are at higher risk of MG after filtration surgery. A multi-disciplinary approach after four patients experienced poor outcomes concluded that traditional first-line glaucoma surgery was not sufficient to prevent visual loss. A fifth patient presenting with the identified at-risk phenotype underwent primary pars plana vitrectomy, with pars plana Baerveldt tube insertion, successfully preventing MG and had no glaucoma progression after 5 years.

Interpretation

We provide proof-of-principle that genetic analysis can be used to inform the selection of surgical therapy to improve outcomes. In this case, a refinement of current surgical methods to avoid MG. Although challenges remain, personalised surgery has the potential to improve clinical outcomes beyond the scope of current surgical practice.

SUBMITTER: Low S

PROVIDER: S-EPMC7042240 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Publications

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.

Low Sancy S Mohamed Ryian R Davidson Alice A Papadopoulos Maria M Grassi Piergiacomo P Webster Andrew R AR Black Graeme C GC Foster Paul J PJ Garway-Heath David F DF Bloom Philip A PA

Eye (London, England) 20190827 3

<h4>Background</h4>The availability and reduced cost of genotyping has improved gene susceptibility testing and our scientific understanding of disease pathophysiology. Whilst several personalised translational models exist within medical frameworks, genetic-based surgical therapy is a translational application not widely used in surgical specialties.<h4>Method</h4>We present a clinical series of five patients with genetically confirmed bestrophinopathy and malignant glaucoma (MG). Patients were ...[more]

PMID: 31455904

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Project description:BackgroundInterventions to improve personalised and holistic care delivery by healthcare professionals are more likely to be effective if they target the factors influencing specific behaviours. This study reports on the development and testing of a questionnaire to identify perspectives of healthcare professionals' personalised and holistic care behaviours based on the Theoretical Domains Framework.MethodsThe study was conducted in public health services in Victoria, Australia. The questionnaire was developed and pilot-tested with behaviour change researchers and healthcare professionals. Doctors, nurses and midwives were recruited via notices and email invitations from Safer Care Victoria's website and mailing lists of healthcare professionals and invited to completed the questionnaire online (hosted on Qualtrics). Health services administrators and allied health professionals were excluded from the study. Confirmatory factor analysis was undertaken to generate the model of best fit and group differences were tested using univariate tests.ResultsOne hundred and four healthcare professionals from public health services in Victoria, Australia, completed the 39-item questionnaire focusing on specific personalised and holistic care behaviours. The final model consisted of 13 factors and 39 items, and CFA produced an acceptable fit, as well as adequate levels of discriminant validity and internal consistency (α = 0.60 to 0.84). Seven domains, "social influence", "motivation & goals", "environmental context and resources', "skills", 'beliefs about consequences", "behaviour regulation" and "nature of behaviour" were identified. Significant differences in the factors influencing these behaviours were found in groups with different years of experience and role seniority. These findings suggest that future interventions need to be targeted to specific groups.ConclusionThis study identified the specific behaviours and the factors associated with performance of personalised and holistic care among healthcare professionals. The findings suggest several interventions and policy functions may be taken to improve personalised and holistic care.

Dataset Information

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.

Background

Method

Findings

Interpretation

Publications

A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.

Similar Datasets

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