Research issue
Medicine and health care often use a ‘one size fits all’ approach to treatment or care. This means many treatments are only effective in 30-60% of people receiving them, while others may not benefit at all.
Better and more equitable healthcare can be achieved by improved understanding of people’s diversity – such as genetic, social or ethnic variation.
What do we do?
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Our ‘stratified medicine’ research aims to better identify people, or groups of people at risk of disease, and their response to an intervention or treatment.
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We do this by developing and using emerging techniques – such as applying advances in genomics or data science.
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We also research how to use these techniques in ‘real life’ health care practice with patients, their GPs and other community healthcare settings. This is ‘translational research'.
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We evaluate these approaches in diverse communities to help achieve more equitable (fairer) benefit from advances in care.
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Both stratification and translation are required for patients and health services to benefit from better-targeted and effective interventions in prevention and management of common conditions.
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This enables selection of the ‘right treatment at the right time’ for individuals.
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Having a ‘stratified’ approach can also help earlier diagnosis, screening and treatment, or smarter monitoring, in more cost-effective ways.
Video: What is Stratified Medicine?
Video: Applying data science to clinical research
Our focus so far
Our focus is on major health problems we can address in primary care - such as cardiovascular disease, cancers and common inherited disorders.
An example:
Patients identified with raised cholesterol provides an exemplar of our primary care stratified medicine research: interrogating primary care databases has enabled us to stratify patients into those with inherited lipid disorders and multifactorial risk factors for cardiovascular disease, whilst genomic testing enables us to confirm those with severe familial hypercholesterolaemia and milder polygenic conditions.
Also, the database research combined with further sequencing of genome, will stratify patients by response to different lipid lowering therapies. We have also translated these techniques into actual primary care clinical practice using mixed method research.
Data science research
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Pharmacogenomics stratifying drug response to statins using the Clinical Practice Research Datalink (CPRD).
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Machine-learning using neural networks, deep learning, ensemble learning, random forests, gradient boosting for improving diagnosis of cardiovascular disease using the Clinical Practice Research Datalink (CPRD).
Related publication:
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Common inherited disorders
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First study using primary care electronic health records to investigate the association between Sickle Cell Trait and thrombotic risk.
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Risk stratification of familial hypercholesterolaemia using the Clinical Practice Research Datalink.
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External validation of the familial hypercholesterolaemia case finding stratification tool using UK General Practice databases.
Related publications:
We are working on new ways to interrogate large healthcare datasets by developing and testing methods of data-driven and machine-learning approaches.
Related presentation*:
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Mixed methods translational research
The first randomised control trial (ADDFAM) which showed that simple family history assessment collection by GPs can improve risk stratification of future risk of heart disease in primary care.
Related publications:
The first mixed methods study (ADDGEN) assessing acceptability of cardiovascular genetic testing in primary care.
Related publications*:
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Qureshi N, Kai J, Middlemass J, Dhiman P, Cross-Bardell L, Acharya J, Li KW, Humphries SE, Standen PJ. Comparison of coronary heart disease genetic assessment with conventional cardiovascular risk assessment in primary care: reflections on a feasibility study. Primary Health Care Research & Development 2015; 16(6):607-617 doi: 10.1017/S1463423615000122
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Middlemass JB, Yazdani MF, Kai J, Standen PJ, Qureshi N. Introducing genetic testing for cardiovascular disease in primary care: a qualitative study. British Journal of General Practice 2014;64(622):e282-e289 doi: 10.3399/bjgp14X679714
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Related editorial: Walter FM, Emery J, Burton H. Chronic disease prevention in primary care: how and when will genomics impact? British Journal of General Practice 2014; 64 (624): 331-332. doi: https://doi.org/10.3399/bjgp14X680401
Related presentations*:
*You may download, view and print these presentations for your personal non-commercial use, subject to Copyright and the Terms and Conditions below.
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The first exploratory trial (FBC) of systematically stratifying risk of familial breast cancer using decision support software in primary care.
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Genetic educational outreach project to improve identification of familial cancer in primary care.
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Systematic reviews on clinical utility of the cancer family history and accessing cancer genetic services.
Related publications:
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Qureshi N, Carroll JC, Wilson B, Santaguida P, Allanson J, Brouwers M, Raina P. The current state of cancer family history collection tools in primary care: a systematic review. Genetics in Medicine 2009; 11(7):495-506
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Drury N, Bethea J, Guilbert P, Qureshi N. Genetics support to primary care practitioners – a demonstration project.Journal of Genetic Counselling 2007;16:583-591
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Bethea J, Qureshi N, Drury N, Guilbert P. The Impact of Genetic Outreach Education and Support to Primary Care on Practitioner's Confidence and Competence in Dealing with Familial Cancers. Community Genetics 2008;11:289-294 doi: 10.1159/000121400
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Wilson BJ, Qureshi N, Santaguida P, Little J, Carroll JC, Allanson J, Raina P. Systematic Review: Family History in Risk Assessment for Common Diseases. Annals of Internal Medicine 2009;151(12):878-885 doi: 10.1059/0003-4819-151-12-200912150-00177
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Qureshi N, Wilson B, Santaguida P, Little J, Carroll J, Allanson J, Raina P. NIH State-of-the-Science Conference: Family History and Improving Health. Evidence Report / Technology Assessment no 186. AHRQ publication no. 09-E016 Rockville, MD: Agency for Healthcare Research and Quality 2009.
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Wilson B, Qureshi N, Little J, Santaguida P, Carroll J, Allanson J, Keshavarz H, Raina P. Clinical utility of cancer family history collection in primary care. Evidence Report/Technology Assessment no 179. AHRQ Publication No. 09-E007 Rockville, MD: Agency for Healthcare Research and Quality 2009.
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Qureshi N, Wilson B, Santaguida P, Caroll J, Allanson J, Culebro CR, Brouwers M, Raina P. Collection and Use of Cancer Family History in Primary Care.Evidence Report/Technology Assessment No. 159. AHRQ publication no. 08-E001. Rockville, MD: Agency for Healthcare Research and Quality, 2007.
Related presentations*:
*You may download, view and print these presentations for your personal non-commercial use, subject to Copyright and the Terms and Conditions below.
Common inherited disorders
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The first observational intervention study (FAMCHOL) of systematically identifying familial hypercholesterolaemia in primary care.
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The first clinical utility study (FAMCAT) of using a novel informatics-based risk stratification algorithm, developed from routine GP databases, to diagnose and manage patients with familial hypercholesterolaemia in primary care.
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Systematic reviews on implementing preconception screening in primary care, and identification of familial hypercholesterolaemia in non-specialist settings.
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The first national genetic antenatal screening programme.
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National genetics and genomics surveys of primary health care practitioners' attitudes, knowledge and skills.
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Evaluate the national neonatal screening programme for cystic fibrosis and sickle cell disorder.
Related publications:
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Qureshi N, Weng S, Tranter J, El-Kadiki A, Kai J. Feasibility of improving identification of familial hypercholesterolaemia in general practice: intervention development study. BMJ Open 2016;6(5):e011734 doi: 10.1136/bmjopen-2016-011734
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Hussein N, Kai J, Qureshi N. The effects of preconception interventions on improving reproductive health and pregnancy outcomes in primary care: A systematic review. European Journal of General Practice 2016;22(1):45-52 [published Online First: 26 November 2015]
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Hussein N, Qureshi N, Weng SF, Kleijne nJ, Kai J. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Cochrane Database of Systematic Reviews 2013;Issue 12(Art. No.: CD010849):DOI: 10.1002/14651858.CD010849
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Kai J. PEGASUS: Professional Education for Genetic Assessment and Screening: Manual for Health Professional Educators and Training Facilitators. (NHS Antenatal and Newborn Screening Programmes). ISBN 0-85358-227-0. Nottingham: University of Nottingham, 2006.
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Qureshi N, Armstrong S, Modell B. GPs' opinions of their role in prenatal genetic services: a cross-sectional survey. Family Practice 2006; 23(1):106-110
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Qureshi N, Hapgood R, Armstrong S. Continuous medical education approaches for clinical genetics: a postal survey of general practitioners. e-letter. Journal of Medical Genetics 2002;39:e69 doi: http://dx.doi.org/10.1136/jmg.39.11.e69
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Kai J, Ulph F, Cullinan T, Qureshi N. Communication of carrier status following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice. Health Technology Assessment 2009;13(57):1-106
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Parker H, Qureshi N, Ulph F, Kai J. Imparting carrier status results detected by newborn screening for sickle cell and cystic fibrosis in England: current practice and policy challenges. BMC Health Services Research 2007;7:203
Related presentation*:
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The first and largest randomised control trial (ECLIPSE) that found that the levonorgestrel intrauterine system (LNG-IUS) was more effective than usual care to reduce menorrhagia in primary care.
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Evaluating pharmacogenomics test for adverse effects to carbamazepine and allopurinol.
Related Publications:
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Gupta JK, Daniels JP, Middleton LJ, Pattison HM, Prileszky G, Roberts TE, Sanghera S, Barton P, Gray R, Kai J. A randomised controlled trial of the clinical effectiveness and cost-effectiveness of the levonorgestrel-releasing intrauterine system in primary care against standard treatment for menorrhagia: the ECLIPSE trial. Health Technology Assessment programme 2015;19(88) doi: http://dx.doi.org/10.3310/hta19880
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Gupta JK, Kai J, Middleton L, Pattison H, Gray R, Daniels J, for the ECLIPSE Trial Collaborative Group. Levonorgestrel Intrauterine System versus Medical Therapy for Menorrhagia. New England Journal of Medicine 2013;368(2):128-37 doi: doi:10.1056/NEJMoa1204724 [published Online First: 10 January 2013]
Impact
Our research impacts health policy internationally, including:
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NICE guidelines on familial hypercholesterolaemia, breast cancer and lipid modification.
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Antenatal and newborn genetic screening programmes.
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Related training in the UK NHS.
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Use of family history in health care (NIH consensus statement in US).
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Research on diversity and genetics is helping reduce disparities in the Genome England 100,000 project.
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NIHR Signal - Reminders help GPs to find and manage inherited cholesterol disorder
Recent Grants
- Prof. N Qureshi (Lead): Evaluating alternative protocols for identifying and managing patients with familial hypercholesterolaemia: cost-effectiveness analysis with qualitative study. Funded by the NIHR Health Technology Assessment (2017-2021). Privacy Notices:
- Prof. N Qureshi (Lead), Dr S Weng, Prof. J Kai, Prof. C Coupland, Dr M Jones: Improving identification of familial hypercholesterolaemia in primary care using a new case ascertainment tool. Funded by the NIHR School for Primary Care Research (2017-2021)
- Prof. N Qureshi (Lead): Improving identification of Familial Hypercholesterolaemia (FH) in primary care with the application of genetic testing: qualitative study. Funded by the NIHR School for Primary Care Research (2016-2017)
- Prof. N Qureshi (Lead): Survey of GPs accessing genomics information. Funded by the Health Education England (2016-2018)
- Prof. N Qureshi (Lead): Use of FaHRAS familial cancer risk decision support system in primary care setting. Funded by the East Midlands Academic Health Science Network (2016-2017)
- Dr M Jones (Lead), Dr S Weng, Prof. N Qureshi, Prof. J Kai: Is systematic identification of familial breast cancer risk more cost-effective that the currentlyrecommended opportunistic approach? Funded by the NIHR School for Primary Care Research (2016-2018)
- Prof. N Qureshi (Lead): Improving identification of familial hypercholesterolaemia in general practice: intervention optimisation study and systematic review (FAMCHOL). Funded by the NIHR School for Primary Care Research (2012-2016)
- Prof. N Qureshi (Lead), Prof. J Kai, Prof. D Kendrick & Prof. K Vedhara: Proactive familial breast cancer risk assessment in primary care: feasibility of an optimised intervention to improve identification and care of women at risk. Funded by the NIHR School for Primary Care Research (2013-2017)
- Dr S Weng (Lead), Prof. J Kai & Prof. N Qureshi: External Validation of the Familial Hypercholesterolaemia Case Ascertainment Tool (FAMCAT). Funded by the NIHR School for Primary Care Research (2017-2018)
- Dr S Weng (Lead): Derivation and validation of a clinical algorithm to identify patients with not responding to optimal cholesterol control on statins. Funded by AMGEN (2017-2019)
- Prof. J Kai.
- ECLIPSE: Effectiveness and cost effectiveness of levonorgestrel containing intruterine device compared to standard treatment for menorrhagia in primary care (Randomised Control Trial). Funded by the NIHR HTA (2004-2014)
- Medical treatment of heavy menstrual bleeding in primary care: Long term follow up of ECLIPSE trial cohort. (ECLIPSE Follow up). Funded by the NIHR HTA (2015-2019)
Publications
Our research has been published in leading peer-reviewed journals. See our individual staff profiles to find out more. See a list of our recent publications.