Genetic Counsellor

Job overview

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.

Main duties of the job

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• 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.

Detailed job description and main responsibilities

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