Job Description

An exciting opportunity has arisen for a Genetic/Genomic Counsellor to join the highly specialised Ehlers-Danlos syndromes service covering the South of England and Wales in delivering a comprehensive, equitable clinical genomic and counselling service for people with, or at-risk of, rare, monogenic types of Ehlers-Danlos syndromes.



The post holder will have experience in genetic/genomic counselling and can demonstrate an interest in diagnosis and management of rare, monogenic conditions.



As a member of the EDS service, they will be expected to do pre-clinic and post-clinic consultations as well as be responsible for preparing for and attending relevant MDTs, for example with the sister EDS service in Sheffield or with other health care professionals that are involved in management of individuals with rare types of EDS. They will be expected to attend joint clinics for individuals with rare types of EDS and vascular involvement in Great Ormond Street and Barts Hospital. They will have on-call responsibilities which includes being able to answer appropriate queries. They will gain and maintain an up-to-date knowledge of the scientific, medical, and psychological aspects of care for individuals with rare types of EDS. Once, familiar with the clinical role, the post holder is also expected to contribute to research projects taking place in the service. The post holder should already hold or be working toward professional UK registration.







Key responsibilities



Provide expert genetic/genomic counselling for patients and families with rare, monogenic EDS. This will include seeing patients and their families, both in-person, and through virtual and telephone consultations. Accurately document family history using appropriate computer systems such as Phenotips or paper if necessary. Take a lead role in the provision of predictive genetic testing, clinical appointments and management of (urgent) enquiries. With support, liaise with laboratory colleagues to facilitate appropriate testing and storage of specimens, interpret genetic test results and confirm phenotypic information. Liaise with other healthcare professionals involved in management of individuals with rare, monogenic EDS types. Be responsible for attending and contributing towards case presentations at MDT meetings. Act as a rare EDS resource and participate in teaching to other healthcare professionals/students or patient/public groups. Contribute to service development, and research projects.

London North West University Healthcare NHS Trust (LNWH) cares for the people of Brent, Ealing, Harrow and beyond.



Our team of more than 8,200 clinical and support staff serve a diverse population of almost one million people.

We run major acute services at:

Northwick Park Hospital:

home to one of the busiest emergency departments (A&E) in the country. The hospital provides a full range of services including the country's top-rated hyper-acute stroke unit and one of only three hyper-acute rehabilitation units in the UK

St Mark's Hospital:

an internationally renowned specialist centre for bowel disease

Ealing Hospital:

a busy district general hospital providing a range of clinical services, as well as 24/7 emergency department and urgent care centre, and specialist care at Meadow House Hospice

Central Middlesex Hospital:

our planned care site, hosting a range of surgical and outpatient services and collocated with an urgent care centre.



We are a university teaching NHS trust, in recognition of the important role we play in training clinicians of the future and bringing the benefits of research to the public.



To view the main responsibility, please see the attached the and Person Specification.