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What is Human Genetics?

There are two main branches to Human Genetics as a professional discipline in the UK:

Medical Genetics

Medical Genetics is a medical specialty, which deals with conditions which are or may be caused by changes in genes. Genetic conditions may run in families. Examples include Down syndrome, haemophilia and cystic fibrosis.

Members of the BSGM are involved in the front line of delivering services to the public in Regional Genetics Centres throughout the UK.

Regional Genetics Services include the provision of clinical and laboratory facilities, utilising the modern techniques of Cytogenetics, Molecular Genetics, Molecular Cytogenetics, and Biochemical Genetics.

Human Genetic Research

New insights into the causes of genetic conditions and the processes of human development are being revealed by genetic research on a daily basis. This work in turn feeds back to the clinical services, allowing the development of new diagnostic tests and therapeutic strategies.

    Latest News

  • consent and confidentiality - briefing document

    posted 2nd October 2017  |  0 Comments

    This briefing document was commissioned by the BSGM to highlight areas of the 2011 consent and confidentiality in genetic practice guidance that may need revision. It also outlines where practice has changed significantly since the last version and recognises that genomic medicine now extends well beyond the specialty of clinical genetics

    Read more