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Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare

Katherine S Josephs, Alison Berner, Angela George, Richard H Scott, Health Education England's Genomic Education Programme, Helen V Firth and Katrina Tatton-Brown
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DOI: https://doi.org/10.7861/clinmedicine.19-4-269
Clin Med July 2019
Katherine S Josephs
ASouth West Thames Regional Genetic Services, London, UK and St George's, University of London, London, UK
Roles: specialist registrar in clinical genetics
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Alison Berner
BBarts Cancer Institute, London, UK and clinical research fellow, Genomics England, London, UK
Roles: specialist registrar in medical oncology
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Angela George
CRoyal Marsden NHS Foundation Trust, London, UK
Roles: consultant in oncogenetics
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Richard H Scott
DGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UK and clinical lead for rare disease, 100,000 Genome Project, Genomics England, London, UK
Roles: consultant in clinical genetics
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EHealth Education England, London, UK
Helen V Firth
FCambridge University Hospitals NHS Foundation Trust, Cambridge, UK and Wellcome Sanger Institute, Cambridge, UK and Joint Committee on Genomics in Medicine, Royal College of Physicians, London, UK
Roles: consultant in clinical genetics
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Katrina Tatton-Brown
GSt George's University Hospitals NHS Foundation Trust, London, UK and professor in clinical genetics and genomic education, St George's, University of London, London, UK and Joint Committee on Genomics in Medicine, Royal College of Physicians, London, UK
Roles: consultant in clinical genetics
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  • For correspondence: k.tattonbrown@nhs.net
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Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare
Katherine S Josephs, Alison Berner, Angela George, Richard H Scott, Health Education England's Genomic Education Programme, Helen V Firth, Katrina Tatton-Brown
Clinical Medicine Jul 2019, 19 (4) 269-272; DOI: 10.7861/clinmedicine.19-4-269

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Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare
Katherine S Josephs, Alison Berner, Angela George, Richard H Scott, Health Education England's Genomic Education Programme, Helen V Firth, Katrina Tatton-Brown
Clinical Medicine Jul 2019, 19 (4) 269-272; DOI: 10.7861/clinmedicine.19-4-269
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  • Article
    • ABSTRACT
    • Genomics
    • Case study 1: Genomic variants: innocent until proven guilty
    • Case study 2: The power of a genetic diagnosis
    • Case study 3: Interpreting results: beware the amplification of error
    • Case study 4: Access to gene-directed therapies
    • Case study 5: The realisation of personalised medicine
    • Discussion
    • Supplementary material
    • Acknowledgements
    • References
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