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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.

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Job Purpose 

To provide clinical genomics expertise as part of the Clinical Team in the delivery of Congenica’s products and services offerings.

Main Responsibilities

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

Additional Responsibilities

  • 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.

Employee Profile

Essential – Attributes candidate must have on entering the role

Qualifications

  • 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

Related Experience

  • Use of software and/or bioinformatics packages for DNA sequence analysis and interpretation
  • Effective communicator
  • Evidence of CPD

Behavioural Qualities

  • 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

Related Experience

  • 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

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