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The NHS East Genomic Medicine Service Alliance Harnesses PhenoTips’ Genomic Health Record in a Milestone Regional Transformation Project

TORONTO--(BUSINESS WIRE)--#GMS--The NHS’ East Genomic Medicine Service Alliance (GMSA) is harnessing PhenoTips’ cloud-based Genomic Health Record in a first-of-its-kind regional transformation project to evaluate the centralisation and equitable embedding of genomic medicine and genomic testing into patient care pathways.

The East GMSA is one of seven GMSAs across England established to embed genomics into routine clinical care, ensure equity of access to genomic tests commissioned by the NHS National Genomics Test Directory, and facilitate collaboration across disciplines and geographies.

The East GMSA, and the associated East Genomic Laboratory Hub (GLH), strives to provide timely diagnoses and personalised medical care to the 8.3 million people living in the East Midlands and East of England region, regardless of where they live or which hospital they are treated at.

PhenoTips’ Genomic Health Record will support the goals of the East GMSA across this large region by acting as a centralised database for family history and associated information, enabling seamless data sharing and referrals between and within Trusts, streamlining the genetic test requisition process with the East GLH, and improving information governance.

PhenoTips’ Genomic Health Record will act as a cloud-hosted centralised database for genomic information, enabling access and collaboration between the region’s Trusts, beginning with two of the three Trusts whose testing laboratories comprise the East GLH. Already integrated with one of the East GLH Trust’s Electronic Patient Record (EPR), PhenoTips will harness the latest standards to streamline referrals and genetic test ordering, automate pedigrees with digital questionnaires, capture standardised 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, NHS East GMSA Clinical Director said, “Our collaboration with PhenoTips is an important step to continue the embedding of 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. 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.”

“This is an exciting opportunity to begin expanding the accessibility of a single instance of PhenoTips to the entire East GMSA region,” said PhenoTips’ Chief Executive Officer, Dr. Pawel Buczkowicz. “This expansion has the power to promote clinical collaboration between East GMSA Trusts while improving information governance, removing the need for duplicate work and the resulting copying errors, and enabling continuous care of patients even when they move between Trusts and specialties.”

PhenoTips’ implementation in the East GMSA marks a revolutionary milestone for the ways in which technology is harnessed for genomics with real-world implications for the actualisation of precision medicine. While PhenoTips is already in use by regional health systems internationally, the East GMSA implementation will deeply integrate autonomous Trusts with separate EPRs with a centralised PhenoTips instance, 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.

About PhenoTips

PhenoTips’ Genomic Health Record is the leading software solution for medical genetics. Founded in 2014 out of a research project at The Hospital for Sick Children (SickKids) and the University of Toronto, PhenoTips’ software addresses the challenges commonly faced in medical genetics with a single solution, while preparing clinics for the proliferation of genetic testing into mainstream healthcare. PhenoTips’ solutions support multiple Canadian provincial health authorities, UK NHS Trusts, leading hospitals in the USA, and genetics industry leaders including the Undiagnosed Diseases Network. Learn more about PhenoTips at

About the East Genomic Medicine Service Alliance

The East Genomic Medicine Service (GMS) Alliance is one of seven GMS Alliances in England formed from the NHS GMS in order to oversee and coordinate the embedding of genomics into mainstream clinical care and the implementation of personalised medicine. The East GMS Alliance includes Cambridge University Hospitals NHS Foundation Trust, Nottingham University Hospitals NHS Trust, University Hospitals of Leicester NHS Trust, and Norfolk and Norwich University Hospitals NHS Foundation Trust, and is paired with the East Genomic Laboratory Hub (GLH) led by the laboratory center at Cambridge and consisting of local laboratories in Nottingham and Leicester. Together the East GMS Alliance and East GLH provide genetic and genomic care and testing for 29 NHS Trusts and serve a population of over 8.3 million people.

Contacts, phone number 4379913790



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