The document outlines the role of clinical scientists in genetic diagnostics, detailing various specialties such as embryology, pathology, and clinical engineering. It describes the responsibilities involved in genetic testing and patient care, as well as career progression within the field of clinical genetics. Additionally, it provides a list of relevant educational resources and career pathways for aspiring healthcare scientists.

1. Diagnostic Screening for Genetic Diseases Farrah Khawaja Clinical Scientist

2. University of Leicester BSc Biological Sciences (’99-’02) BSc Biological Sciences\ Genetics MRes Human Genetics (’02-’03) 1 year research-based course

3. Career Progression… Pre-registration Clinical Scientist NW Thames Regional Genetics Service

4. Clinical Scientist CS’s use their specialist knowledge to support healthcare staff in their work with patients Their specific duties will depend on their exact job role, but may involve: interpreting test results and suggesting methods of treatment to doctors researching, developing and testing new methods of diagnosis and treatment advising doctors on the use and purchase of commercial products and equipment

5. 3 main areas… Life sciences Embryology: researching infertility, (inc. IVF treatment, egg retrieval & assisted reproduction) Pathology: investigating the cause and progression of illness, or reason for death Genetics: studying cells (chromosomes) to check for abnormalities in newborn babies

6. 3 main areas… Physiological sciences more likely to work directly with patients 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

7. 3 main areas… Clinical engineering 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

8. Molecular Geneticist Analysis of cellular DNA to define genetic abnormalities Offer genetic diagnosis to families and individuals who have and might be at risk of developing inherited disorders Work revolves around three main categories: Prenatal diagnosis Carrier testing Confirmation of diagnosis

9. Career Progression… Pre-registration Clinical Scientist NW Thames Regional Genetics Service CF (newborn screening), HD, HH, FragileX, Various ColoRectal Cancers Clinical Scientist SW Thames Regional Genetics Service BRCA screening

10. Automation DNA extraction

11. Sequencing ABI Sequencer (384 well)

13. BRCA: Jewish screen Allele specific PCR

14. BRCA Full Screen MLPA Batches of ~40 patients 8 controls

15. Modernising Science Careers Oct’ 09 pilot scheme 3 year training programme Genetics of Learning Disorders Infertility & Disorders of Sexual Differentiation Population Screening Cancer 2.1 entry MSc Awarded Registered??? 1 Nottingham 6 Birmingham 2 Bristol 2 London x 2 4 Sheffield/Leeds 2 Newcastle Scientific trainees Department

16. Healthcare Scientist – Band 6 Registered Clinical Scientist – Band 7 Senior Clinical Scientist – Band 8+ + London Weighting (inner 20% / outer 15%)

17. Useful sites… http://www.geneticseducation.nhs.uk/ http://www.rcpath.org/ http://www.nhscareers.nhs.uk/ https://www.nhsclinicalscientists.info http://www.hpc-uk.org/ http://www.assclinsci.org [email_address]