Genomic Practitioner

Working with the clinical team of genetic counsellors and clinical geneticists to facilitate genetic counselling and diagnosis through: Obtaining family histories by telephone, family history form or in person Obtaining paediatric development information using a proforma Assessing which medical and genetic records and test results are needed to enable risk assessment and diagnosis. Obtaining appropriate medical and genetic records, results and investigations. Obtaining and checking appropriate permissions and consents Organising and obtaining familial blood or saliva samples to help confirm diagnosis in proband. Monitoring outstanding records/samples/screening and taking appropriate action Facilitating safeguarding including confirming parental responsibility for looked-after children Responding to referrals that do not require clinical contact Facilitating patient access through discussion of the purpose of genetic referral including in those with more complex needs, learning or social difficulties and in whom English is not their first language.

Provide patient support through signposting to existing patient resources and support groups and supporting the creation of patient leaflets Auditing and improving systems to facilitate patient access including referrer education and website modification MDT coordination Phlebotomy (following training) Collect and enter data onto the clinical databases as part of clinical care and for audit. Administrative duties including filing of patient records. Organise internal meetings and rotas and to take a lead in the co-ordination of education and patient support events including facilities, resources and communications.