The BSGM 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 for its members two times a year.

A major BSGM conference is organised each year. The Society has a governing executive committee 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 Genomics in Medicine.

The Society is a member of the International Federation of Human Genetics Societies. BSGM is a registered UK charity (Registered Charity 1058821).