Each health condition exhibits aphenotypewhich could be as simple as high blood pressure. Therefore, in the context of human health, we define aphenotype as all the characteristics (or “traits”) that together constitute one or more health conditions. The study of phenotypes is known asphenomics, and multiple phenotypes constitutethe Phenome.

As a community we are interested in studying the Phenome,i.e.the characteristics of multiple health conditions simultaneously, this is a wide angled approach to health research and is complementary to more ‘vertical’ approaches which focus on one disease or one clinical speciality at a time.

In order to study the Phenome, we can tap into the enormous amount of health data that is contained within Electronic Health Records (EHR) – information that is captured and recorded when a patient visits a health care settinge.g.symptoms, diagnoses, test results or prescriptions. Our researchers are developing tools and methods to unlock this data and make it useable and useful, for healthcare professionals and the patients they care for.

By studying the Phenome, we can for the first time, develop consistent ways to define and understand the risk to an individual’s health across such wide ranges of diseases, which will both support the work of health care professional and the needs of patients.

The Phenome ǰٲ a

The Phenome ǰٲ a underpins the research being carried outwithin the51 science priorities: ‘Better Care’, ‘Understanding the Causes of Disease’, ‘Improving Public Health’, ‘Clinical Trials’, ‘Applied Analytics’.  

ThePhenomepriority area of 51workswith patients and clinicians tofacilitate thesharing, reuse and publication of research definitionsand standardsfor researchtoprovide insights toimprovehumanhealth.

  • With we are beginning to demonstrate the value of ‘whole person’ approaches for patients who may have conditions spanning several clinical specialities:

    • The Phenomics for People Action Groupwill work with researchers to definethe ‘phenotypes that matter’ to patientsandensurethat Phenomics research is carried outhand-in-handwith patients and publicand isdrivenby the priorities of patients
    • We are taking initial steps tounderstand and addresspublic demand for risk information across a wide range of conditionse.g.()

    Patients, their health and the Phenome

  • Withresearchers(computer scientists, software engineers and others)we willdeveloptools and methodsfor research across a wide range of conditions, including:

    • The first nationalopen access online standards drivenPhenotype Library(withdefinitions ofhundreds of diseases, conditions, risk factors) from coded,text data anddata from mobile and wearables
    • New analytic methods for massive volumes ofmedicaltextstored withinclinic notes, letters, reports) across hospitals,theHubs(51 centres of excellence)andHDRAlliance memberswhichinclude leading health,careand research organisations
    • Gaining actionable insights fromsmartphones and wearable devicesas ways of providing more detailed and more frequentphenotyping

    Researchers, Tools and Methods for the Phenome

  • With the next generation of health datascienceresearcherswe willdeliverteaching and trainingviaThe PhenomicsCurriculum–a series ofBitesizevideocoursesdeliveredas part of the51 national CPD programmefor people who want to know more aboutPhenomics and how to implement associated techniques in their own studies.

Meet our team

Harry Hemingway
Harry Hemingway Professor of Clinical Epidemiology & Director of 51 London
Richard Dobson
Richard Dobson Professor of Biostats and Health Informatics, King's College London and Institute of Health Informatics
Angus Roberts
Dr Angus Roberts Department of Biostats and Health Informatics
Serina Hayes 51 Phenomics Programme Director
Natalie Fitzpatrick Phenomics Programme Manager and Patient and Public Involvement Lead
John Dinnewell 51 London Officer
Find out more

Our Human Phenome outputs

Read the Phenome discoveries and insights generated by our community to better understand diseases and find ways to prevent, treat and cure them.

Read here

Our Human Phenome experts

Find out about the researchers who are doing Team Science across our 31 locations

List of experts

Access the our CALIBER Phenotype Portal

Our Phenotype Portal is the largest national standards-driven library of citable phenotyping algorithms, meta-data and tools for electronic health records research. The open-access Portal provides the scientific community with information on complex health and disease characteristics from diverse UK health data in machine readable form to improve reproducibility and reduce duplication.