Genomic Practitioner

Job overview

The Genomic Practitioner role is a newly established Healthcare Science role within the Genomic Counselling workstream. The Genomic Practitioner is responsible for facilitating the collection of information, consent, samples and test results to enable genomic counselling and testing for patients with rare diseases and their family members.

The Genomic Practitioner will work within clinical genetics under the guidance and supervision of Genetic Counsellors and Clinical Geneticists and is required to work to departmental Standard Operating Procedures, and current professional standards. Genomic Practitioners are responsible for managing their own workload, however responsibility for diagnosis, risk assessment, counselling and ordering genetic tests rests with more senior staff (genetic counsellors and clinical geneticists). The role involves communicating regularly with patients and with clinical, laboratory and administrative teams across the South West and nationally.

Main duties of the job

Working within the clinical genetics department, under the supervision of registered Genetic Counsellor’s the Genomic Practitioner will make telephone contact with patients referred in to our service to gather specific information requested by Clinician’s prior to or after a Genetics clinic appointment. This may include family history information such as names and dates of birth of relatives and where relevant discussing consent to access medical records or genetic test results to inform the genetic counselling process. It will include obtaining appropriate samples for genetic testing and recording consent for these where appropriate. This will include the documentation of the record of discussion on behalf of NHS clinicians who request whole exome sequencing (WES) or whole genome sequencing (WGS) from the NHS Genomic Test Directory for their patients, typically where the consent discussion has already been conducted by the clinician. The genomic practitioner will also help to facilitate access to the service, particularly amongst marginalised communities and families who are difficult to engage. Other roles include facilitating patient support days and patient engagement events. The role also includes co-ordinating multidisciplinary meetings and occasional education events for professionals.

Detailed job description and main responsibilities

For a more detailed job description, main responsibilities, and Person Specification, please refer to the job description document attached to this vacancy.