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Diagnostic Screening for Genetic Disease


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Farrah Khawaja graduated from Biological Sciences at the University of Leicester. Having stayed on to complete a Research Masters in Human Genetics, she has subsequently been working as a Clinical Scientist.

These slides are from a Careers After Biological Science seminar given by Farrah in February 2010.

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Diagnostic Screening for Genetic Disease

  1. 1. Diagnostic Screening for Genetic Diseases Farrah Khawaja Clinical Scientist
  2. 2. University of Leicester <ul><li>BSc Biological Sciences (’99-’02) </li></ul><ul><ul><li>BSc Biological Sciences Genetics </li></ul></ul><ul><li>MRes Human Genetics (’02-’03) </li></ul><ul><ul><li>1 year research-based course </li></ul></ul>
  3. 3. Career Progression… <ul><li>Pre-registration Clinical Scientist </li></ul><ul><ul><li>NW Thames Regional Genetics Service </li></ul></ul>
  4. 4. Clinical Scientist <ul><li>CS’s use their specialist knowledge to support healthcare staff in their work with patients </li></ul><ul><li>Their specific duties will depend on their exact job role, but may involve: </li></ul><ul><ul><li>interpreting test results and suggesting methods of treatment to doctors </li></ul></ul><ul><ul><li>researching, developing and testing new methods of diagnosis and treatment </li></ul></ul><ul><ul><li>advising doctors on the use and purchase of commercial products and equipment </li></ul></ul>
  5. 5. 3 main areas… <ul><li>Life sciences </li></ul><ul><ul><li>Embryology: researching infertility, </li></ul></ul><ul><ul><li>(inc. IVF treatment, egg retrieval & assisted reproduction) </li></ul></ul><ul><ul><li>Pathology: investigating the cause and progression of illness, or reason for death </li></ul></ul><ul><ul><li>Genetics: studying cells (chromosomes) to check for abnormalities in newborn babies </li></ul></ul>
  6. 6. 3 main areas… <ul><li>Physiological sciences </li></ul><ul><ul><li>more likely to work directly with patients </li></ul></ul><ul><ul><li>e.g: you could work in audiology or cardiac physiology, investigating how an organ functions (using specialist techniques and equipment) in order to reduce the disabling effects being experienced by the patient </li></ul></ul>
  7. 7. 3 main areas… <ul><li>Clinical engineering </li></ul><ul><ul><li>you could be involved in designing and developing instruments to monitor and treat patients, creating new ways to treat and diagnose illness, and making sure complex equipment is set up and used correctly </li></ul></ul>
  8. 8. Molecular Geneticist <ul><li>Analysis of cellular DNA to define genetic abnormalities </li></ul><ul><li>Offer genetic diagnosis to families and individuals who have and might be at risk of developing inherited disorders </li></ul><ul><li>Work revolves around three main categories: </li></ul><ul><ul><li>Prenatal diagnosis </li></ul></ul><ul><ul><li>Carrier testing </li></ul></ul><ul><ul><li>Confirmation of diagnosis </li></ul></ul>
  9. 9. Career Progression… <ul><li>Pre-registration Clinical Scientist </li></ul><ul><ul><li>NW Thames Regional Genetics Service </li></ul></ul><ul><ul><ul><li>CF (newborn screening), </li></ul></ul></ul><ul><ul><ul><li>HD, HH, FragileX, </li></ul></ul></ul><ul><ul><ul><li>Various ColoRectal Cancers </li></ul></ul></ul><ul><li>Clinical Scientist </li></ul><ul><ul><li>SW Thames Regional Genetics Service </li></ul></ul><ul><ul><ul><li>BRCA screening </li></ul></ul></ul>
  10. 10. Automation DNA extraction
  11. 11. Sequencing ABI Sequencer (384 well)
  12. 13. BRCA: Jewish screen Allele specific PCR
  13. 14. BRCA Full Screen MLPA Batches of ~40 patients 8 controls
  14. 15. Modernising Science Careers <ul><li>Oct’ 09 pilot scheme </li></ul><ul><li>3 year training programme </li></ul><ul><ul><li>Genetics of Learning Disorders </li></ul></ul><ul><ul><li>Infertility & Disorders of Sexual Differentiation </li></ul></ul><ul><ul><li>Population Screening </li></ul></ul><ul><ul><li>Cancer </li></ul></ul><ul><li>2.1 entry </li></ul><ul><li>MSc Awarded </li></ul><ul><li>Registered??? </li></ul>1 Nottingham 6 Birmingham 2 Bristol 2 London x 2 4 Sheffield/Leeds 2 Newcastle Scientific trainees Department
  15. 16. <ul><li>Healthcare Scientist – Band 6 </li></ul><ul><li>Registered Clinical Scientist – Band 7 </li></ul><ul><li>Senior Clinical Scientist – Band 8+ </li></ul>+ London Weighting (inner 20% / outer 15%)
  16. 17. Useful sites… <ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li> </li></ul><ul><li>[email_address] </li></ul>