Genetics in the NHS: Looking towards the Next Generation


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Jon Williams studied Medical Genetics at the University of Leicester (graduating 2007) and stayed on to complete a PhD on human telomeres. In this talk, given as part of the 2014 Careers After Biological Sciences programme, Jon discusses the emergence of Genetics within the NHS, and the Scientist Training Program as a route from initial study of bioscience into this exciting field.

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Genetics in the NHS: Looking towards the Next Generation

  1. 1. Genetics in NHS Looking towards the Next Generation Jon Williams PhD Pre-Registration Clinical Scientist Oxford Medical Genetics Laboratories
  2. 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. 3. Clinical Science in the NHS Reproductive Medicine Cytology Histology Biochemistry Genetics Immunology Hematology
  4. 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. 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. 6. Genetics Services across the UK
  7. 7. The Case Work
  8. 8. Fluorescent in situ hybridisation to diagnose Williams syndrome
  9. 9. Array Comparative Genome Hybridisation
  10. 10. Fragile X Syndrome Testing Normal Female Pre-mutation Carrier Female
  11. 11. Spinal Muscular Atrophy Testing
  12. 12. 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
  13. 13. The Illumina sequencing process. Raffan E , and Semple R K Br Med Bull 2011;bmb.ldr029 © The Author 2011. Published by Oxford University Press. All rights reserved. For permissions, please e-mail:
  14. 14. Investigation of VUCS • Use of public databases – EVS, dbSNP, 1000genomes • Amino acid conservation • Conserved domains (paralogues)
  15. 15. 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)
  16. 16. 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!
  17. 17. 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!)
  18. 18. 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
  19. 19. How to apply • Positions advertised in January – 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
  20. 20. 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
  21. 21. Further Information • • Email - • Questions?