Strategies for analyzing genotype-phenotype relationships in asthma

Wiesch, Denise G.; Meyers, Deborah A.

doi:10.1016/s0091-6749(00)90047-2

Cited by 6 publications

(3 citation statements)

References 10 publications

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“…Estimating a causal relationship between genotype and phenotype tends to be highly complicated, owing to, among other things, the potential for gene–gene and gene–environment interactions, heterogeneity in genetic markers (e.g. hundreds of different BRCA mutations have been found in patients with breast cancer [ 43 ]) and heterogeneity in clinical symptoms [ 44 ]. Additionally, it may be difficult to identify appropriate controls, to link genetic data to data on clinical outcomes [ 45 ] and to get a large enough sample size to meet statistical significance requirements.…”

Section: Resultsmentioning

confidence: 99%

Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine

et al. 2021

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Objective The objective of this study was to develop guidance contributing to improved consistency and quality in economic evaluations of personalised medicine (PM), given current ambiguity about how to measure the value of PM as well as considerable variation in the methodology and reporting in economic evaluations of PM. Methods A targeted literature review of methodological papers was performed for an overview of modelling challenges in PM. Expert interviews were held to discuss best modelling practice. A systematic literature review of economic evaluations of PM was conducted to gain insight into current modelling practice. The findings were synthesised and used to develop a set of draft recommendations. The draft recommendations were discussed at a stakeholder workshop and subsequently finalised. Results Twenty-two methodological papers were identified. Some argued that the challenges in modelling PM can be addressed within existing methodological frameworks, others disagreed. Eighteen experts were interviewed. They believed large uncertainty to be a key concern. Out of 195 economic evaluations of PM identified, 56% addressed none of the identified modelling challenges. A set of 23 recommendations was developed. Eight recommendations focus on the modelling of test-treatment pathways. The use of non-randomised controlled trial data is discouraged but several recommendations are provided in case randomised controlled trial data are unavailable. The parameterisation of structural uncertainty is recommended. Other recommendations consider perspective and discounting; premature survival data; additional value elements; patient and clinician compliance; and managed entry agreements. Conclusions This study provides a comprehensive list of recommendations to modellers of PM and to evaluators and reviewers of PM models. Supplementary Information The online version contains supplementary material available at 10.1007/s40273-021-01010-z.

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Section: Resultsmentioning

confidence: 99%

Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine

et al. 2021

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“…Asthma is one of the most widely encountered chronic diseases in childhood and its prevalence has been increasing gradually worldwide, although its etiology not wholly clear. Asthma prevalence in childhood increased from 3.11% to 4.3% and this is especially prominent in Caucasians and in both sexes [10]. Follow-ups and treatment is difficult for the patient and her/his family due to the chronic nature of the disease and frequent exacerbation periods.…”

Section: Discussionmentioning

confidence: 99%

Association Between Clinical Severity of Childhood Asthma and Serum Leptin Levels

et al. 2010

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“…Asthma has been recognized as a heterogeneous disorder with a multifaceted phenotype in which complex interactions between environmental and genetic factors cause bronchial inflammation with variable, reversible airflow obstruction, airway hyperresponsiveness and airway inflammation that produces characteristic clinical symptoms (1)(2)(3). Considerable overlap among several clinical variants and phenotypes described in both genders and in all ethnic groups has been considered to make an accurate and comprehensive phenotyping in asthma quite challenging with difficulties to identify a particular phenotype and direct appropriate treatment strategies (3).…”

Section: Introductionmentioning

confidence: 99%

Asthma phenotypes in Turkey: a multicenter cross‐sectional study in adult asthmatics; PHENOTURK study

Yıldız

Mungan

Gemicioğlu

et al. 2015

Clinical Respiratory J

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Strategies for analyzing genotype-phenotype relationships in asthma

Cited by 6 publications

References 10 publications

Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine

Guidance for the Harmonisation and Improvement of Economic Evaluations of Personalised Medicine

Association Between Clinical Severity of Childhood Asthma and Serum Leptin Levels

Asthma phenotypes in Turkey: a multicenter cross‐sectional study in adult asthmatics; PHENOTURK study

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