Preconception Optimised Exome Testing (POET): Delivering effective genetic services to populations at high risk of serious genetic childhood disorders

Introduction to project

Birmingham has consistently high infant mortality rates, almost double the national average in England and Wales.

POET aims to offer testing to couples in the West Midlands identified as being at high risk of their children having serious conditions. The project will be initially focussed on severe conditions of progressive intellectual and neurological deterioration. The project aims to develop measures to prevent and reduce perinatal, infant and early childhood mortality.   

What are we doing? 

We have been working with a primary care network (PCN) in the Midlands, A nurse and GP at the PCN were trained with foundation knowledge of genomics to deliver this project.

We are currently identifying the patient cohort at the PCNs and inviting all identified patients to the project. Currently the project is only being offered to patients of South Asian descent as the gene panel is focused on diseases prevalent in this population.

The plan for this project is for the trained nurse/GP to hold conversations with interested patients including record of discussion and consent to genetic testing, and taking a blood sample should they be interested in genetic testing.

The genetic test will assess whether the couple, together, have certain genetic risks of disease that they may pass onto children.

What training is available?

Genomic Scenarios in Primary Care – Healthcare Course – FutureLearn

Royal College of General Practitioners – Webinars on Family History of Cancer and Rare Disease in Primary Care: Genomics Webinars ( RCGP Genomics Webinar Part 2: Rare Disease 

Who can I contact?

Programme Manager – Lisa Dew