East Genomics

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Powerful new digital genetics tool to support diagnosis and care for cancers and rare conditions launched at UHL

A new digital tool for taking the genetic family history of patients, which can improve the process for diagnosing cancers and rare conditions, has been launched at University Hospitals of Leicester NHS Trust.

PhenoTips - a cloud-based Genomic Health Record system, supporting the centralisation and embedding of genomic medicine and genomic testing into patient care pathways across the East Midlands and East of England

Clinicians at the Trust will now benefit from the tool which supports them in making diagnoses, deciding the appropriateness of genetic testing, as well as decisions over what care to offer, whether patients could benefit from genetic counselling and supporting family planning decisions.

The cloud-based Genomic Health Record system, known PhenoTips’, is the first of its kind in the East Midlands and East of England to centralise and embed genomic medicine and genomic testing into patient care pathways.

PhenoTips’ will act as a centralized database for family history and associated information, enabling seamless data sharing and referrals between and within Trusts, and streamline the process for requesting genetic testing with the laboratories who coordinate and process genetic tests.

Improving communication between our regional Trusts

It will also mean better communication between the region’s NHS Trusts, beginning with two of the three Trusts whose testing laboratories comprise the East Genomic Laboratory Hub (GLH), namely Leicester and Cambridge.

Already integrated with one of East GLH Trust’s electronic Patient Records (EPRs), PhenoTips will streamline referrals and genetic test ordering, automate pedigrees with digital questionnaires, capture standardized clinical data, guide triage, perform risk assessments, store and maintain post variant analysis reports and laboratory data, and enable GLH variant multidisciplinary teams (MDTs).

Professor Dick Sandford, Clinical Director at NHS East Genomics who are rolling out the PhenoTips tool at UHL, said: “Our collaboration with PhenoTips is an important step towards embedding genomics into patient care pathways, meaning appropriate genomic testing will be available to anyone who could benefit from it.

“A major blocker to this ambition is the fact that computer systems very often don’t integrate or ‘talk’ to each other within and between NHS Trusts.

Professor Dick Sandford, East GMSA Clinical Director

Our project therefore marks a step-change in the way technology is harnessed for genomics that will have real world implications, including supporting clinicians to open up genomic testing to more and more patients, who in turn could receive earlier diagnoses and more targeted, personalised medicines

Profess Dick Sandford, Clinical Director, East GMSA

The Cambridge experience

The PhenoTips tool has been used at Cambridge University Hospitals (CUH) since 2014.

Dr. Marc Tischkowitz, Professor of Medical Genetics in the Department of Medical Genetics at CUH said: “Before Phenotips, we would draw family trees by hand. This was a problem if it needed to be altered over time, or if illegibility made reviewing it difficult. But as a digital solution, PhenoTips doesn’t just improve family history taking, it also provides data capturing, document storage, and improved diagnoses for the oncology and dysmorphology departments. It revolutionized how we work in our department and made us much more efficient”.

Leicester launch

Clinicians at UHL are looking forward to using the tool and replicating the positive experiences of Cambridge.

Jo Lowry, Regional Programme Manager for NHS East Genomics who is based at UHL said: “We are thrilled to be able to fully launch the tool in Leicester and look forward to the more efficient, enhanced patient care that we know it brings.

“We have used a free version of the software since 2019 in support of the 100k Genomes Programme (opens in a new tab).

but this full launch of the complete PhenoTips functionality will lead to much greater integration and efficiency, whilst also reducing data errors.

Jo Lowry, Regional Programme Manager, East GMSA

PhenoTips’ implementation in the East Midlands marks a milestone for the ways in which technology is harnessed for genomics with real world implications for the realisation of precision medicine.

While PhenoTips is already in use by regional health systems internationally, the implementation across the East Midlands will integrate Trusts with separate EPRs with a centralized PhenoTips system, making this the first time a region of this size in the NHS has been unified by a single system.

Future direction for the project will involve PhenoTips expanding support for inherited cardiovascular conditions (ICC) and sudden cardiac death (SCD) as well as integrating with additional Trusts and GLH workflows to support MDT reporting and research activities.

In addition, the implementation at the East GMSA will act as a pilot project to model genomic mainstreaming across the NHS, with the potential to expand PhenoTips into other alliances to support equitable access to genomic medicine and genomic testing across England.

Non-urgent advice: See our PhenoTips project page