This document provides an overview of genetics services in the UK National Health Service (NHS). It summarizes the background and career of the author, a pre-registration clinical scientist. It then describes the role of clinical scientists in assisting with diagnosis, performing laboratory tests, research, and education. The document outlines the organization of genetics services in regional genetics centers and the types of genetic testing performed. It provides examples of techniques used like fluorescence in situ hybridization, array comparative genome hybridization, and DNA sequencing. The scientist training program is summarized as a graduate scheme involving work-based training and an MSc to train the next generation of clinical scientists. Career progression and pay scales within the NHS are also summarized.

1. Genetics in NHS
Looking towards the Next Generation
Jon Williams PhD
Pre-Registration Clinical Scientist
Oxford Medical Genetics Laboratories

2. My Background
• Undergraduate – Medical Genetics, graduated
in 2007 with first class degree
• Postgraduate – PhD, Human Telomeres (Dr.
Nicola Royle)
• Currently working as a Pre-Reg Clinical
Scientist in Oxford while completing final year
of the NHS Scientist Training Programme

3. Clinical Science in the NHS
Reproductive
Medicine
Cytology
Histology
Biochemistry
Genetics
Immunology
Hematology

4. Role of the Clinical Scientist
• Assist and advise the clinical team on patient
diagnosis
• Perform, analyse and report upon laboratory
tests
• Research and Development
• Education

5. Genetics in the NHS
• Traditionally organised into Regional Genetics
Centres (incorporate Cyto-, Molecular and
Clinical Genetic Services)
• Testing falls into one of three categories;
familial (carrier) testing, diagnostic and presymptomatic (prenatal)
• Genetic techniques now more widespread;
Microbiology, Virology, Haematology etc.

6. Genetics Services across the UK

7. The Case Work

9. Fluorescent in situ hybridisation to diagnose Williams syndrome

10. Array Comparative
Genome Hybridisation

11. Fragile X Syndrome Testing
Normal Female
Pre-mutation Carrier Female

12. Spinal Muscular Atrophy Testing

13. DNA Sequencing
• Most labs operate a medium-high throughput
Sanger sequencing service; Single exons
amplified by PCR and sequenced with
universal primers (robotics)
• Increasingly converting to next generation
sequencing; allows parallel sequencing of up
to 200+ genes across 12-14 patients
simultaneously
• Future – Whole Exome/Genome sequencing

14. The Illumina sequencing process.
Raffan E , and Semple R K Br Med Bull 2011;bmb.ldr029
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15. Investigation of VUCS
• Use of public databases – EVS, dbSNP,
1000genomes
• Amino acid conservation
• Conserved domains (paralogues)

17. The Scientist Training Program
• A graduate scheme aimed at training the next
generation of clinical scientists
• Involves work based training coupled with an
MSc. in the chosen specimen
• Tied in with clinical experience (Clinic visits,
counseling sessions, patient interaction)

19. The MSc. Component
• Provides the clinical background of the
diseases with which you will work
• 3 years part-time, distance learning
• Exams
• Minimal coursework
• Large project component and viva voce exam
• Nice way to gain a post-graduate qualification
from a good ranking university without paying
for it!

20. Career Structure and Pay
•
•
•
•
Paid according to Agenda for Change Scales
Trainees paid at Band 6 (£25,783)
Clinical Scientists Band 6/7 (£25,783–£40,558)
Career progression past this stage dependant
upon qualifications
• Principle Clinical Scientist
• Consultant Clinical Scientist (up to £98k!)

21. Why work in the NHS
• Application of expert knowledge to directly
improve lives
• Defined career structure
• Opportunities for translational research
(particularly in genetics e.g. NextGen
Sequencing, Array CGH, non-invasive PND)
• Expanding areas of science - Bioinformatics

22. How to apply
• Positions advertised in January – jobs.ac.uk
and New Scientist
• Nationwide application/short-listing/interview
process
• Apply to specialism with indication of regions
in which you hope to work/live
• Aptitude tests prior to short-listing
• ‘Speed Dating’ style interviews

23. Boosting your Chances
• Experience – Lab visits, applied research etc.
• Read up on the work done by Clinical
Scientists
• Dig out those third year lecture notes!
• Apply for work as a Genetic Technologist

24. Further Information
• http://www.nhscareers.nhs.uk/
• Email - jonathan.williams2@ouh.nhs.uk
• Questions?