Job Description

Applications are invited from State Registered Clinical Scientists in Genomics; scientists close to registration will also be considered.The scientist will be joining the team at the North Thames Rare Disease Laboratory Hub at Great Ormond Street Hospital. We are seeking enthusiastic, self-motivated scientists with experience of genomic service delivery and a sound understanding of molecular and cytogenetic techniques and analysis. Accomplished communication and organisational skills are required.The successful candidate will join the postnatal team at the North Thames Rare Disease Laboratory Hub at Great Ormond Street Hospital. Experience of cytogenetic analysis and interpretation including karyotyping and copy number analysis is essential.We support trained scientists who wish to adopt flexible and/or hybrid working patterns. For Clinical Scientists, after a successful probation period, there is a requirement to work on-site for 40% of working hours.Main duties of the jobThe Rare Disease Laboratory has an establishment of approximately 160 including technologists, clinical scientists, translational scientists, bioinformaticians and administrative support staff. Along with two Clinical Genetics teams we form a strategic Genetics Unit within the hospital and provide North London with a Regional Genetics Service serving a population of approximately 10 million. Having been awarded 11 specialisms in the NHSE Genomic Medicine Service the laboratory provides an in-house diagnostic service for cancer, molecular and cytogenetic testing in accordance with the NHS England Genomic Test Directory. Cytogenetic testing is provided for both prenatal and postnatal samples using SNP microarray, karyotyping, FISH, and qPCR. Molecular testing includes next generation sequencing and targeted tests. We are also engaged in the delivery of the NHSE GMS Whole Genome Sequencing programme for our North Thames patients.We are involved in a number of collaborative research and development projects with colleagues at the UCL Institute of Child Health and Institute of Neurology as part of the UCL Partners Academic Health Sciences Centre. We provide a DNA preparation and storage service in support of many of these projects.Informal telephone enquiries can be made to Lucy Platts. Phone: 0207 762 6888 Email: Lucy.platts@gosh.nhs.ukAbout usGOSH is committed to recruiting the best person for the job, based solely on their ability and individual merit as measured against the criteria for the role; through a process that is fair, open, consistent and free from bias and discrimination.We are committed to being a diverse and inclusive employer and foster a culture where all staff are valued, respected and acknowledged. All applicants will receive consideration for employment without regard to race, colour, national origin, religion, sexual orientation, gender, gender identity, age, disability status or length of time spent unemployed.We particularly welcome applications from BAME communities, people with disabilities and/or long-term health conditions and LGBT+ community members.We have policies and procedures in place to ensure that all applicants and employees are treated fairly and consistently. We are proud to be accredited as a Disability Confident Employer, a member of Business Disability Forum and a Stonewall Diversity Champion.We have active and Executive supported BAME, LGBT+ and Allies, Disability and Long-Term Health Conditions and Women's staff networks.Staff networks are employee-led groups formed around interests, issues and a common bond or background. Staff network members create a positive and inclusive work environment at Great Ormond Street Hospital by actively contributing to the Trust's mission, values and efforts specific to inclusion. All of our staff networks are open to any employeeDate posted04 April 2025Pay schemeAgenda for changeBandBand 7Salaryxc2xa354,320 to xc2xa360,981 a year per annum inclusiveContractPermanentWorking patternFull-timeReference number271-GEN-7120178Job locationsGreat Ormond Street Hospital for Children NHS Foundation TrustGreat Ormond Street HospitalLondonWC1N 3JHJob descriptionJob responsibilitiesThe full job description provides an overview of the key tasks and responsibilities of the role, and the person specification outlines the qualifications, skills, experience and knowledge required. For both documents please view the attachment/s below Job descriptionJob responsibilitiesThe full job description provides an overview of the key tasks and responsibilities of the role, and the person specification outlines the qualifications, skills, experience and knowledge required. For both documents please view the attachment/s belowPerson SpecificationGOSH Culture and ValuesEssential

• Our Always values
• Knowledge and Understanding of diverse backgrounds and perspectives
• Understanding of Diversity and Inclusion challenges in the workplace
• Demonstrable contribution to advancing Equality, Diversity and Inclusion in the Workplace

Academic/Professional qualification/TrainingEssential

• BSc Honours degree in an appropriate biological science with a substantial genetics component or alternative qualifications and equivalent experience
• HCPC Clinical Scientist Registration Certificate

Desirable

• Postgraduate qualification in Genomics

Experience/KnowledgeEssential

• Experience working in a clinical diagnostics/ genomics laboratory
• Extensive knowledge of clinical genomics and a demonstrable track record in the delivery of a diagnostic service
• Experience of writing clinical genetics reports
• Knowledge and experience of molecular variant classification in accordance with relevant guidelines including analysis of complex variants including CNV and structural variants from next-generation sequencing data
• Track record of scientific Publications/ presentations

Desirable

• Experience in the analysis and reporting of whole genome sequencing data
• Evidence of supervising/training other staff
• Experience with laboratory information and quality management systems

Skills/AbilitiesEssential

• Skilled in Next Generation Sequencing Applications / Sanger Sequencing and/or genomic CNV analysis by use of G banded chromosomes / FISH / Microarray
• Good organisational and interpersonal skills. Willing to adapt to changes in workflow and organisation
• Computer literate, including use of Genetic databases, analytical software, variant classification
• Able to communicate effectively both verbally and in writing (by email and by appropriate documentation)
• Able to write protocols

Desirable

• Background in cytogenetic and molecular procedures

Person SpecificationGOSH Culture and ValuesEssential

• Our Always values
• Knowledge and Understanding of diverse backgrounds and perspectives
• Understanding of Diversity and Inclusion challenges in the workplace
• Demonstrable contribution to advancing Equality, Diversity and Inclusion in the Workplace

Academic/Professional qualification/TrainingEssential

• BSc Honours degree in an appropriate biological science with a substantial genetics component or alternative qualifications and equivalent experience
• HCPC Clinical Scientist Registration Certificate

Desirable

• Postgraduate qualification in Genomics

Experience/KnowledgeEssential

• Experience working in a clinical diagnostics/ genomics laboratory
• Extensive knowledge of clinical genomics and a demonstrable track record in the delivery of a diagnostic service
• Experience of writing clinical genetics reports
• Knowledge and experience of molecular variant classification in accordance with relevant guidelines including analysis of complex variants including CNV and structural variants from next-generation sequencing data
• Track record of scientific Publications/ presentations

Desirable

• Experience in the analysis and reporting of whole genome sequencing data
• Evidence of supervising/training other staff
• Experience with laboratory information and quality management systems

Skills/AbilitiesEssential

• Skilled in Next Generation Sequencing Applications / Sanger Sequencing and/or genomic CNV analysis by use of G banded chromosomes / FISH / Microarray
• Good organisational and interpersonal skills. Willing to adapt to changes in workflow and organisation
• Computer literate, including use of Genetic databases, analytical software, variant classification
• Able to communicate effectively both verbally and in writing (by email and by appropriate documentation)
• Able to write protocols

Desirable

• Background in cytogenetic and molecular procedures

NHS