Each health condition exhibits a phenotype which could be as simple as high blood pressure. Therefore, in the context of human health, we define a phenotype as all the characteristics (or “traits”) that together constitute one or more health conditions. The study of phenotypes is known as phenomics, and multiple phenotypes constitute the 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 setting e.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 Phenomepriority area

The Phenomepriority area underpins the research being carried out within  the HDR UK science priorities: Better Care’, ‘Understanding the Causes of Disease’, ‘Improving Public Health’, ‘Clinical Trials’, ‘Applied Analytics’.  

The Phenome priority area of HDR UK works with patients and clinicians to facilitate the sharing, reuse and publication of research definitions and standards for research to provide insights to improve human health. 

  • With patients and the public 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 Group will work with researchers to define the ‘phenotypes that matter’ to patients and ensure that Phenomics research is carried out hand-in-hand with patients and public and is driven by the priorities of patients 
    • We are taking initial steps to understand and address public demand for risk information across a wide range of conditions e.g. (OurRisk.CoV)  

    Patients, their health and the Phenome

  • With researchers (computer scientists, software engineers and others) we will develop tools and methods for research across a wide range of conditions, including:

    • The first national open access online standards driven Phenotype Library (with definitions of hundreds of diseases, conditions, risk factors) from coded, text data and data from mobile and wearables  
    • New analytic methods for massive volumes of medical text stored within clinic notes, letters, reports) across hospitals, the Hubs (HDR UK centres of excellence) and HDR Alliance members which include leading health, care and research organisations 
    • Gaining actionable insights from smartphones and wearable devices as ways of providing more detailed and more frequent phenotyping 

    Researchers, Tools and Methods for the Phenome

  • With the next generation of health data science researchers we will deliver teaching and training via The Phenomics Curriculum – a series of Bitesize video courses delivered as part of the HDR UK national CPD programme for people who want to know more about Phenomics and how to implement associated techniques in their own studies.

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.

Access here