East Genomics

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Familial Hypercholesterolaemia

Our Familial Hypercolesterolaemia (FH) Genomics Community of Practice (CoP) is one of several CoPs we are currently supporting. See below for further details, including future meetings and how to join.

Lead Clinicians

  • Javier Gomez, Consultant Chemical Pathologist, Norfolk and Norwich University Hospitals NHS Trust
  • Shelina Rajan, Clinical Nurse Specialist – Familial Hypercholesterolaemia & Lipid Management, Norfolk and Norwich University Hospitals NHS Trust
Javier Gomez and Shelina Rajan
Javier Gomez and Shelina Rajan

Who is this CoP for?

Clinicians working in:

  • Chemical Pathology
  • Cardiology
  • Endocrinology
  • Primary Care
About this Community of Practice

The introduction of a CoP for genetic diagnosis of familial hypercholesterolaemia (FH) in the East region addresses the need for consistent, high-quality genetic test requests.

Currently, variability in referrals and lack of awareness of both index case and cascade testing pathways impacts diagnostic accuracy and timely identification of FH patients.

This CoP will unite healthcare professionals, standardise best practices, and improve understanding of genetics in FH. By fostering collaboration, education, and alignment with national guidelines, the CoP will support early diagnosis, prevention, and treatment of FH, ultimately reducing cardiovascular risk in the population.

Meeting schedule

Meetings take place on the SECOND Thursday of every month, from 12.30pm - 1.30pm.

  • Details of the first meeting will be added here shortly.

Non-urgent advice: Join this Community of Practice

To join this - or any of our Genomic Communities of Practice - please register (or update) your details via our form here.

Please ensure to select the Community of Practice that you wish to join.

Resources from previous meetings

You will soon be able to access slides and recordings of all Familial Hypercholesterolaemia CoP meetings on our FutureNHS workspace.

If you haven't already, you can request access to this platform by following this link (opens in a new tab).