Creation of a cancer genetic database

Location: Guy's and St Thomas' NHS Foundation Trust
Grantholder: Initially awarded to J Berg, Senior Lecturer, Division of Medical and Molecular Genetics, King’s College London and taken over by Fred Kavalier, Primary Care Geneticist/Consultant, Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust
Award: £137,255
Start date: 24/10/2001

Project intentions: To create a clinical database to identify rapidly and efficiently patients seen previously who will benefit from new evidence of cancer risk and to audit effectively the management of patients.

Project outputs
• A Pedigree drawing application was developed from scratch and integrated into the cancer genetics service.
• An interface, permitting electronic communication between the Pedigree drawing application and Geneworks, the main genetics database, was developed permitting seamless entry of information into Geneworks through the Pedigree drawing application.
• Existing data on old systems was imported into the new data without the need of re-entry.

Benefits
The interface between the drawing application and Geneworks was a unique achievement, not available in any commercial software.
A number of achievements not anticipated at the start of the project are beneficial:

An interface with the Family History application.
The implementation of the Family History import web service.
An interface with the Clinical Genetics Register (Family Follow-up) application.

• Time is saved as duplication of patient data has ceased and clinicians have access to pedigrees and the ability to draw pedigrees on their PCs in the clinic.
• Each electronic pedigree is an investment in the future. When family members are referred to the Genetics Department in the future, there will be no need to take a full family history or draw a new pedigree. The electronic pedigree can be called up on the screen and updated.

Wider learning
The application was used extensively in Cancer – a family affair?, a national pilot project of community-based family history risk assessment.
The application has been used at a Brighton family clinic.
A poster presentation was made at a conference. See it here »

Publications:

Robertson N, Kavalier F, et al. Developing a Cancer Genetic Database for London, J Med Genet 2003; 40: Supplement 1, S36.
Jacobs C, Rawson R, et al. Providing a community based cancer risk assessment service for a socially and ethnically diverse population. Familial Cancer (in press)

Contact for further information: Fred Kavalier Fred.Kavalier@gstt.nhs.uk