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The BSHG is an independent professional body. It brings together people working in the field, issues statements on important aspects of human genetics, and publishes a newsletter three times a year.
 
A major three day conference encompassing all aspects of human genetics is organised each year. The Society has a governing council and a constitution. It offers travel awards to assist members to attend conferences.
 
The Society has an interest in the provision of genetic services at a national level, and is asked for reports and advice on important issues. It has an active role in the Joint Committee on Medical Genetics. 
 
The Society is a member of the International Federation of Human Genetics Societies. BSHG is a registered UK charity (Registered Charity 1058821).