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Gavin Ryan and Rowenna Roberts | Healthcare Scientist Trainees West Midlands Regional Genetics Laboratory Birmingham Women's NHS Foundation Trust 5th November 2014 Undergraduate degree in Genetics PhD at the University of Birmingham – research on thyroid cancer STP in Genetics at West Midlands Regional Genetics Laboratory – MSc at Nottingham University Undergraduate degree in Genetics Genetic technologist at the West Midlands Regional Genetics Lab for 6 months STP in Genetics at West Midlands Regional Genetics Laboratory – MSc at Nottingham University 3 month Internship at the West Midlands Regional Genetics Lab • PhD – academic research → Postdoctoral research → own research group • Graduate training programmes – CRUK, Wellcome trust • Industry – drug discovery/development • Clinical trials • Medical writing • Science communication • Teaching • NHS • • • • • • • • • What is a healthcare scientist? What opportunities are available? What is the STP and where did it come from? Different divisions and themes available My experience so far Overview of the genetics service How is it assessed? Recruitment process Benefits and opportunities Allied Health Professionals Health Informatics Midwifery Wider Healthcare Team Over 50,000 HCS employed in the NHS Doctors Management Ambulance Nursing Comprise 5% of Healthcare workforce in the UK BUT 80% of diagnoses can be attributed to work carried out by HCS - 1 billion pathology Healthcare lab tests Dental - 12 million physiological tests Scientists Play a vital role in the diagnosis, treatment and prevention of a huge number of medical conditions Develop and apply new technologies to improve care Lord Darzi's NHS Next Stage Review (2008) - highlights important role of HCS within the NHS in developing a sustainable workforce for the future Led to DoH publishing Modernising Scientific Careers: The UK Way Forward (2010) - the strategy for the development of the HCS workforce and their education and training Proposals: • Introduce a new simplified career pathway • Develop new training programmes incorporating academic and work-based training • Develop appropriate qualifications and awards Aims: • Standardise training across specialisms and Trusts • Improve education, training and career structures • Build flexible workforce with greater integration between scientific specialities • Ensure workforce is equipped to meet the challenges of future delivery of care • Improve the quality of care for people Ultimate aim is to improve patient outcomes • • • • Launched in 2012 UK wide organisation working across all sectors of healthcare Commissioned by DoH Set up routes to registration following completion of MSC training - approval by HPC to grant certificates Body responsible for registration and regulation • • • • • Developed in 2011 Maintain consistency and standardisation Ongoing QA of training courses and overseeing assessment Support trainees Support departments and staff Oversight, coordination and delivery of training Assistant Practitioner (PTP) Scientist (STP) Consultant (HSST) • Entry from college level • Work towards vocational qualification or foundation degree • Band 4 • Direct entry from college • Work towards BSc degree • Main focus on technical laboratory skills • 3 years • Direct entry from degree level or through PTP • Work towards masters degree and registration • 3 years • Entry through STP • Doctoral level Scientist • direct entry from degree level or through PTP • work towards masters degree and registration Employed as NHS trainee on fixed-term 3 year post Train at band 6 Entry criteria: honours degree (1st or 2:1) in a pure or applied science area relevant to the specialism. 2:2 also considered if applicant has MSc or PhD MSc in Clinical Science Certification of work-based training leading to registration Organisations involved in training: 1. Host employer (NHS Trust) delivers work-based training 2. Higher Education Institute delivers Masters programme 3. NSHCS for oversight, support and coordination Define and choose investigative and clinical options Provide clinical interpretation of a range of results and procedures Write and authorise reports Liaise and provide medical advice to medical professionals Work directly with patients Develop and validate new diagnostic/prognostic tests Assist in supervision of technical staff Skills required: Interest in science and technology Good communication Meticulous attention to detail Ability to work under pressure Good interpersonal skills Organisational skills Leadership & management skills 3 divisions ~50 themes • Mostly work in hospital laboratories • Work with blood or tissue specimens • Use scientific techniques to diagnose and monitor illness 3 divisions ~50 themes • Neurosensory sciences • GI physiology • Cardiac, Vascular, Respiratory and Sleep Sciences • Work in specialised hospital clinics, departments and wards • Patient contact. • Measure what is happening in the body 3 divisions ~50 themes • Medical physics • Clinical engineering • Working with equipment and systems • Use sophisticated techniques to detect what is happening in the body Newcastle University - Medical Physics and CVRS University of Liverpool - Medical Physics University of Manchester - Neurosensory Sciences and Blood Sciences University of Nottingham - Infection Sciences and Genetics Aston University - Neurosensory Sciences Queen Mary’s, University of London - Infection Sciences Kings College London - Medical Physics and Clinical Engineering < Biochemistry, UHCW < Immunology, UoB Medical School Reproductive Science, BWH > • • • • • • • • • Investigation of major organ function e.g. liver, kidneys, pancreas... Diagnose and manage disease through the analysis of blood, urine and other bodily fluids e.g. diabetes, thyroid disease, anaemia Screening and diagnosis of some common cancers e.g. bowel cancer Foetal anomaly screening – for Down syndrome (hCG, AFP markers) to determine if patient should undergo invasive amniocentesis test Newborn screening programme e.g. cystic fibrosis (elevated IRT) Pregnancy tests Drug tests Highly automated Increasingly work performed outside the laboratory to support the investigation of patients at the point of care, including in clinics and operating theatres Embryology Biochemical Screening Ultrasound Scans IVF/ICSI Sickle cell and Thal Screen Pregnant Patient Amnio/CVS QF-PCR Free Fetal DNA Pre-implantation Genetic Diagnosis Blood group + Rhesus Screening Karyotype • Testing for allergy and type 1 hypersensitivity reactions • Levels of immune cells during infection • Immunodeficient patients – HIV, immunosuppressive drugs following transplant etc. • Testing of patients with haematological malignancies i.e. Chronic Lymphocytic Leukaemia, Acute Leukaemia, Lymphoma • Investigating autoimmunity in patients – thyroiditis, rheumatoid arthritis Andrology → semen analysis Embryology → assisted conception techniques Assist collection of eggs from patients Preparation of gametes for fertilisation Performing fertilisation - IUI, IVF, ICSI Culture and grading of embryos Embryo transfer Patient contact Highly technical Laboratory-based with lots of patient contact INTRAUTERINE INSEMINATION IN VITRO FERTILISATION (IVF) Separation of motile sperm and preparation for transfer at ovulation All semen parameters within normal range With or without fertility drugs Oocytes incubated with prepared sperm in plates Recommended for unexplained infertility ~16% for women aged under 35 Unsuccessful IUI Independently penetrate the zona pellucida Fertility drugs to regulate cycle ~32% for women aged under 35 INTRACYTOPLASMIC SPERM INJECTION (ICSI) Reduced semen parameters azoospermia, oligospermia or surgical sperm retrieval Directly inject immobilised sperm into the oocyte ~35% for women aged under 35 Embryology Biochemical Screening Ultrasound Scans IVF/ICSI Sickle cell and Thal Screen Pregnant Patient Amnio/CVS QF-PCR Free Fetal DNA Pre-implantation Genetic Diagnosis Blood group + Rhesus Screening Karyotype Can be inherited or occur de novo Conditions can range from mild to severe/fatal Can affect a person at any age Genetic disorders Can affect any organ within the body Can be due to alterations in one gene or a combination of many alterations in many genes Provide genetic testing service to aid patient care: Diagnose genetic disorders Assess likelihood of passing on to children Carrier testing Presymptomatic testing Prenatal testing Diagnose and assess leukaemia and other cancers Work with range of specimen types: >10Mb Cytogenetics 5Mb Microarray 6Kb Molecular 1bp REASONS FOR CYTOGENETIC TESTING Developmental delay, failure to thrive, dysmorphism, symptoms consistent with a syndrome, infertility, heart defects… Leukaemia, lymphoma including follow-up samples from treated individuals SAMPLES Mainly blood samples Amniotic fluid samples, CVS samples, tissues METHOD Culture lymphocytes Collect cells in metaphase G-band to differentiate regions of chromosomes Align chromosomes and look for differences Down syndrome Trisomy 21 Incidence 1 in 800-1,000 Mild to severe mental disability Characteristic facial features incidence of heart disease REASONS FOR MOLECULAR TESTING Duchenne muscular dystrophy, Cystic fibrosis, Huntingtons disease, Fragile X mental retardation, Prader-willi/Angelman…… Familial breast and breast/ovarian cancer, colon cancer…… SAMPLES Extract DNA & RNA from blood, bone marrow, saliva, amniotic fluid, CVS, skin, tissue biopsies METHODS Polymerase chain reaction (PCR) Sequencing Fragment analysis and dosage Microsatellite analysis Cystic Fibrosis (CF) Most common genetically inherited autosomal recessive disease in Caucasian populations Incidence of 1 in 2500 births; approximately 1 in 25 are carriers Multisystem disorder affecting the intestine, pancreas, respiratory tract, reproductive tract and sweat glands Over 1800 different mutations in the CFTR gene have been found to cause CF We test for the 39 of the most common mutations covering about ~85% of cases mutation no mutation G542X/ F508del Down syndrome Chr 21 Chr 13 Chr18 QF-PCR microsatellite marker analysis for common trisomies Fluorescence in situ hybridisation Embryology Biochemical Screening Ultrasound Scans IVF/ICSI Sickle cell and Thal Screen Pregnant Patient Amnio/CVS QF-PCR Free Fetal DNA Pre-implantation Genetic Diagnosis Blood group + Rhesus Screening Karyotype • Final 2 years composed of 6 modules: – Research Methods and Statistics – Disorders of sexual differentiation and infertility – Genetics of learning disorders – Population screening (prenatal) – Genetics of neuromuscular disorders – Cancer …….and a research project – 60 credits Infection Sciences: − Infectious Disease in the Community and Hospital Setting − Antimicrobial Therapy − High-Risk Groups − Mycology and Parasitology − Public Health Worldwide Clinical Biochemistry: − Clinical Disorders of the Major Organs and Cancer − Endocrinology and Diabetes − Nutrition − Drug Investigation − Pregnancy, Neonatology and Paediatric Clinical Biochemistry Clinical Immunology: − Immunology and Infection − Immunodeficiency and Immunotherapy − Hypersensitivity and Allergy − Haematological Malignancies and Transplantation − Autoimmunity Vascular Science: − Ultrasound Science, Haemodynamics and Instrumentation − Extracranial Arterial (Imaging) − Peripheral Venous (Imaging) − Peripheral Arterial (Screening and Microvasculature Diagnostics) University Work base Introductory Modules Induction E - learning Rotational Specialist teaching Specialist (elective) Assessment programme Continuous assessment DOPs CBDs Competencies OCEs MSF Examinations Final examination Awarding MSc OSFA Research modules Review and confirmation of all Asssessments MSc in Clinical Science REGISTRATION Interview • National • 8432 applications • Numeric/logic testing • 4 weeks March - April • Scientific and leadership skills • Allocation • Local checks • 886 interviewed Short listing 5166 candidates Genetics → 51 applicants interviewed for 17 national places Appointment 287 posts Distance learning Organise your own time Highly variable and always busy Conferences and courses Attending clinics Working for the NHS Direct impact on patients, patient contact Chance to experience different disciplines and areas of healthcare Research project (60 credits) Original piece of research Application of knowledge and scientific investigation Write up as dissertation Registration via Health Professionals Council (HPC) Standardised training approach - apply for jobs nationally Eligible to apply for Higher Specialist Scientific Training (HSST) NHS Careers Advice www.nhscareers.nhs.uk NHS Jobs www.jobs.nhs.uk National School of Healthcare Science www.nshcs.org.uk Academy for Healthcare Science www.academyforhealthcarescience.co.uk BWH Genetics Service www.bwhct.nhs.uk/wmrgl