Genomics in routine clinical care: what does this mean for primary care?

Hayward, Judith; Bishop, Michelle; Rafi, Imran; Davison, Val

doi:10.3399/bjgp17x688945

Cited by 19 publications

(19 citation statements)

References 4 publications

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“…A number of risk models incorporating both genetic and non-genetic biomarkers also exist and may have improved discrimination and calibration. While introducing these into current practice would require fundamental changes in infrastructure ( Aronson and Rehm, 2015 ), progress in this area is advancing ( Hayward et al , 2017 ), and simple risk models, such as those in this study, might be useful to identify those in whom collection of additional biomarker information might be helpful. Further research is therefore needed to assess the performance of models incorporating these additional variables.…”

Section: Discussionmentioning

confidence: 99%

External validation of risk prediction models for incident colorectal cancer using UK Biobank

et al. 2018

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Background:This study aimed to compare and externally validate risk scores developed to predict incident colorectal cancer (CRC) that include variables routinely available or easily obtainable via self-completed questionnaire.Methods:External validation of fourteen risk models from a previous systematic review in 373 112 men and women within the UK Biobank cohort with 5-year follow-up, no prior history of CRC and data for incidence of CRC through linkage to national cancer registries.Results:There were 1719 (0.46%) cases of incident CRC. The performance of the risk models varied substantially. In men, the QCancer10 model and models by Tao, Driver and Ma all had an area under the receiver operating characteristic curve (AUC) between 0.67 and 0.70. Discrimination was lower in women: the QCancer10, Wells, Tao, Guesmi and Ma models were the best performing with AUCs between 0.63 and 0.66. Assessment of calibration was possible for six models in men and women. All would require country-specific recalibration if estimates of absolute risks were to be given to individuals.Conclusions:Several risk models based on easily obtainable data have relatively good discrimination in a UK population. Modelling studies are now required to estimate the potential health benefits and cost-effectiveness of implementing stratified risk-based CRC screening.

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Section: Discussionmentioning

confidence: 99%

External validation of risk prediction models for incident colorectal cancer using UK Biobank

et al. 2018

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“…These findings are highly relevant as mainstreaming of genomics is implemented. Pathways should ensure opportunities are utilized and maximized for disseminating information, for example, the design of test reports, the linking of laboratory results directly to pathways and resources held in places that GPs are familiar with and accessible options for seeking specialist guidance (Hayward et al 2017). To ensure this occurs, there must be clear links between the clinical implementation of genomic testing and the provision of educational resources and pathways for GPs (Crellin et al 2019).…”

Section: Key Findings For Clinical Applicationsmentioning

confidence: 99%

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners

et al. 2020

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Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required. To enable the development of such resources, understanding where GPs currently access genomic information is needed. One-hundred fifty-nine UK GPs completed the survey in response to an open invitation, between September 2017 and September 2018. Questions were in response to 4 clinical genomic scenarios, with further questions exploring resources used for rare disease patients, direct-to-consumer genetic testing and collecting a family history. Respondents were most commonly GP principals (independent GPs who own their clinic) (64.8%), aged 35-49 years (54%), worked as a GP for more than 15 years (44%) and practiced within suburban locations (typically wealthier) (50.3%). The most popular 'just in time' education source for all clinical genomic scenarios were online primary care focussed resources with general Internet search engines also popular. For genomic continuous medical education, over 70% of respondents preferred online learning. Considering specific scenarios, local guidelines were a popular resource for the familial breast cancer scenario. A large proportion (41%) had not heard of Genomics England's 100,000 genome project. Few respondents (4%) would access rare disease specific Internet resources (Orphanet, OMIM). Twenty-five percent of respondents were unsure how to respond to a direct-to-consumer commercial genetic test query, with 41% forwarding such queries to local genetic services. GPs require concise, relevant, primary care focussed resources in trusted and familiar online repositories of information. Inadequate genetic education of GPs could increase burden on local genetic services.

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“…Currently, this consists of factsheets for genetic conditions, but it is anticipated that the resource will expand to include much more 'downloadable' and 'virtual' help for GPs. 3 Although this type of support may be beneficial to GPs who gain familiarity with using it, it is likely that many GPs will see this approach as lacking feasibility within the constraints of a general practice consultation.…”

Section: Genomics In General Practicementioning

confidence: 99%

“…A recent editorial in the BJGP looked at the clinical areas where GPs are most likely to come across genomics in practice and asked what is needed from general practice in order for it to become 'genomics ready'. 3 This article looks at some of the barriers and inequalities to accessing genomic medicine, and considers how genomics might be incorporated into general practice.…”

mentioning

confidence: 99%

Genomics in general practice: Generation Genome

Hillman

Dale

2017

Br J Gen Pract

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Genomics in routine clinical care: what does this mean for primary care?

Abstract: Testing for relevant genetic variants that influence both drug efficacy and drug safety will increasingly be used to aid choice of both drug and dosage."

Cited by 19 publications

References 4 publications

External validation of risk prediction models for incident colorectal cancer using UK Biobank

External validation of risk prediction models for incident colorectal cancer using UK Biobank

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners

Genomics in general practice: Generation Genome

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