Clinical Scientist (HCPC registered)
Congenica is a pioneering digital health company enabling genomic medicine, revolutionizing the way genetic diseases are characterized and diagnosed, and providing life-changing answers. Our end to end solutions, from sample to report, enable you to deliver world-class genomic medicine services and make important clinical decisions that transform the lives of patients and their families.
To provide clinical genomics expertise as part of the Clinical Team in the delivery of Congenica’s products and services offerings.
Maintain and develop a high-quality clinical research genomics service.
- Work with the leadership team and key stakeholders to deliver a high quality and responsive genomic reporting service.
- Work as part of the Congenica Clinical Services team to deliver diagnostic grade variant interpretation and reporting to Congenica’s customers.
- Work with the Quality Assurance and Regulatory Affairs Manager to maintain an ISO compliant Quality Management System.
Genome Data Analysis
- Provide expert input to the interpretation of next generation DNA sequencing data generated from genomes and exomes including SNVs, ins/dels, CNVs and structural variation.
- Develop and provide expertise in the interpretation and reporting of specific variant types as required, for example pharmacogenomic markers
- With support, develop and maintain high-level knowledge of bioinformatic analysis processes and resultant impact upon data interpretation.
- Provide diagnostic grade reports and where appropriate authorise said reports.
Clinical Service support
- Assist in the development and production of documentation and training materials.
- Manage, train and supervise staff as appropriate
Cross Team working
- Provide support and training to Congenica’s customers and work to enable Congenica Sales and Marketing.
- Work with Congenica’s Product and Development Teams to assist with the creation of innovative software and workflows for clinical and research use.
- As required contribute scientific/clinical content to Congenica marketing team activities
- Provide a high level of scientific skill, knowledge and expertise in the provision of an effective clinical research service
- Participate in continual professional development (CPD) and training.
- Attain/Maintain HCPC state registration and work within professional guidelines at all times.
- Where appropriate work towards attainment of other professional qualifications e.g. FRCPath.
- Provide training to other members of Congenica as required.
- Be aware of and act in accordance with the organisations policies on Health and Safety, Equal Opportunities and maintain professional standards in all aspects of the work.
- To undertake such other duties as may reasonably be required.
Essential – Attributes candidate must have on entering the role
- HCPC State Registered Clinical Scientist in a genetic discipline or close to attainment of HCPC registration
- BSc in Genetic/Genetics related subject (2i or above)
- Maths and English language GCSE or equivalent (C grade equivalent or above)
Knowledge, Skills & Abilities
- Extensive scientific knowledge of inherited and acquired diseases, disease mechanisms and clinical impact.
- Extensive knowledge of a range of molecular genetics/molecular cytogenetics laboratory techniques and their application to patient diagnosis.
- DNA sequence interpretation and clinical reporting for single genes and gene panels.
- Experience of writing diagnostic reports
- Knowledge and experience of Quality Management systems and Laboratory accreditation (e.g. ISO15189)
- Experience of writing and reviewing laboratory standard operating procedures.
- Working knowledge of next generation DNA sequencing methodologies
- Effective at training and mentoring
- Ability to think critically
- Use of software and/or bioinformatics packages for DNA sequence analysis and interpretation
- Effective communicator
- Evidence of CPD
- Friendly, approachable and builds positive personal and organisational relationships
- Self-motivated and results-driven, problem-solver
- Enthusiastic, hardworking, well organised and able to prioritise
- Able to work with others, and willing to contribute to team
- Professional appearance and able to produce high standards of work
Desirable – Preferred Attributes on entering the role Qualifications
- MSc/PhD in Genetics/Genetics-related subject
- FRCPath (part 1 or full)
Knowledge, Skills & Abilities
- DNA sequence interpretation and reporting of exomes and genomes.
- Experience of diagnostic report authorisation
- Knowledge and experience of laboratory Quality Management System components
- Hands on use and knowledge of next generation DNA sequencing methodologies
- Supervision and training of students, pre-registration clinical scientists and clinical scientists
- Use of bioinformatics packages for NGS assay design.
- Design, validation and translation into clinical practice of next generation DNA sequencing assays including targeted gene panels and whole exomes.
- Authorship on scientific publications
- Presentation at scientific conferences and meetings