Job Description

Job overview



An exciting opportunity has arisen to work within the Clinical Genetics & Genomics Laboratory (CGGL), based at the Royal Brompton Hospital, part of Guy's and St Thomas' NHS Foundation Trust. The Royal Brompton & Harefield NHS hospitals are the largest heart & lung centres in the UK and among the largest in Europe. We are a partnership of two specialist hospitals which are known throughout the world for our expertise, standard of care and research success.



The CGGL is a genomics diagnostic lab, providing state-of-the-art specialist cardiac & respiratory NGS-based genetic testing as part of the London South Genomics Laboratory Hub (LS GLH).



We are looking for a motivated Genomic Associate with extensive experience in human molecular genetic diagnostics, excellent interpersonal skills, to join our group. We invite individuals who are educated to a degree level in Biological Science, with a strong interest in genetics, to work as a Genomic Associate. The role will include checking referrals, generating and uploading preliminary reports from NGS, sample reception, DNA & RNA extraction, basic laboratory housekeeping tasks, and administration tasks to provide support to our diagnostic work. There will also be an opportunity to prepare simple diagnostic reports and gain some experience in variant assessment.



The CGGL is a UKAS-accredited medical laboratory, currently performing over 6000 diagnostic tests per annum and is also actively involved in research and teaching.



Main duties of the job



The Genomic Associate will be required to act as a flexible administrative resource to support the wider multidisciplinary team in delivering a seamless and integrated end to end genomic medicine pathway. The post holder will be responsible for the co-ordination of the genomic medicine pathway on a day-to-day operational basis.



To be responsible to their line manager and other senior laboratory staff, particularly the Duty Scientist. To collaborate with the other scientific, technical and admin staff To deal with enquiries from other healthcare professionals, To liaise with clinical staff and when required, represent the service at multidisciplinary meetings within the Trust To assist senior laboratory staff with quality issues. To liaise and produce relevant information for laboratory users To undertake all laboratory procedures required for the processing of patient samples. To identify when techniques related to the processing of specimens are not working optimally To prepare and check standard and complex abnormal reports for authorisation by senior Clinical Scientists To participate in internal and external quality control procedures To assist with investigating reported Datix incidents To perform the role following documented laboratory protocols and information management systems To conduct data entry and analysis ensuring the validity and reliability of data at all times.

The Royal Brompton & Harefield Hospitals are part of Guy's and St. Thomas' NHS Foundation Trust, with the Heart and Lung Clinical Care Group forming the largest heart and lung centre in the UK and among the largest in Europe. We are a partnership of specialist hospitals which are known throughout the world for our expertise, standard of care and research success. The Clinical Genetics and Genomics Laboratory is also part of the NHSE South East Genomic Laboratory hub and is one of four cardiac and one of three respiratory laboratories, delivering the specialist testing nationally.



The Clinical Genetics and Genomics Laboratory in the Royal Brompton has generated deep expertise in cardiovascular (CV) and respiratory genetics through a large programme of work over the last 7 years and has established infrastructure, expertise and variant repositories on site. The CGGL has developed sophisticated bioinformatic tools and pipelines for the analysis and reporting of different types of sequence data and is actively involved in research to develop new technologies. The diagnostic service collaborates closely with the National Heart and Lung Institute (NHLI), Imperial College London.

Organisational Values:

Our values help us to define and develop our culture, what we do and how we do it . It is important that you understand and reflect these values throughout your employment with the Trust.



Detailed job description and main responsibilities



In conjunction with senior laboratory staff, the post-holder will undertake the duties and responsibilities of a Genomic Associate role in the provision of a comprehensive, modern, high quality clinical genetics diagnostic service at RBHH.



To assist the Duty Scientists in responding to all generic laboratory correspondence and queries and help organise the various workflows from diagnostic requests, sample reception and the generation of preliminary and final diagnostic reports, to the issuing of diagnostic reports.

To maintain a high level of accuracy and reliability in defined routine, processing, analytical and associated procedures following documented laboratory SOPs and instructions.



To check the appropriateness of all referrals, including clinical eligibility and demographics are correct in SQVD and Clarity.



To check the appropriateness of all referrals, including clinical eligibility and demographics.



To ensure accurate data entry and data transcription when booking in samples for all referrals in LIMS.



To support with writing, issuing, generating and uploading of reports from various lab tests.



To provide technical lab support to clinical scientists in the analysis and recording of lab results (e.g. prelim NGS report generation and Sanger results analysis and recording).



All duties are undertaken under the supervision of Senior Genetic Technologists/Clinical Scientists following standard protocols, with advice available from peers.



To collaborate and communicate professionally with all members of the department and all multi-disciplinary teams across healthcare services with all matters necessary to achieve the maximum efficiency of the service.

To play a role in the continuous development of the Trust as a member of the CGGL team.