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Lunch and Learn: Think Patient Care, Think Genomics

June 24 2022 @ 1:00 PM - 2:00 PM

Session One: Cystic Fibrosis screening and diagnosis

Join us for our first edition of Lunch and learn, a session for nurses and midwives focused on Cystic Fibrosis.

Speakers and topics covered:


Carrier testing
Cathryn Moss, Principle Genetic Counsellor, St George’s Hospital

This session will offer nurses and midwives a practical guide to Cystic Fibrosis carrier testing including eligibility criteria and interpretation of results.

Prenatal diagnosis- a case study
Dr Zen Ling, Maternal Fetal Medicine Subspecialist Trainee, St George’s Hospital

This session will offer a case scenario of suspected Cystic Fibrosis in the prenatal period, providing a discussion on the investigation and options to parents.

Diagnosis following the Newborn blood spot
Jacqui Cowlard, Paediatric CF CNS, Royal London Hospital

This session will provide an overview of the role of the CF clinical nurse specialist in supporting patients and their parents following screening and diagnosis of the Newborn.


Register your place via the Eventbrite page or scan the QR code in the flyer attached.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.