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Register of chromosomal abnormalities in Queensland
The Medical Journal of Australia
|August 20, 1983
Summary
A new computer-aided system (CAROK) tracks chromosomal abnormalities in Queensland, providing unselected population data. The register recorded 880 cases from 1976-1981, showing an average incidence of 6.61 per 100,000 people.
Area of Science:
- Medical Informatics
- Genetics
- Public Health
Background:
- Cytogenetic laboratories in Queensland serve a population of 2.2 million.
- Accurate data on chromosomal abnormalities is crucial for public health.
- Existing data collection methods may be fragmented or unselected.
Purpose of the Study:
- To describe the development and implementation of the Computer-Aided Retrieval of Karyotypes (CAROK) register.
- To establish a comprehensive, unselected database of chromosomal abnormalities in Queensland.
- To detail the policies governing data confidentiality, security, access, and safety within CAROK.
Main Methods:
- Development of a computer-aided system for karyotype retrieval.
- Centralized data contribution from six independent cytogenetic laboratories.
- Establishment of data management protocols for confidentiality and security.
Main Results:
- The CAROK register contains 880 consecutive abnormal cases from 1976-1981.
- This represents an unselected six-year series of diagnosed chromosomal abnormalities.
- The average incidence of newly diagnosed chromosomal abnormalities was 6.61 per 100,000 general population annually.
Conclusions:
- CAROK provides a reliable, permanent record of cytogenetic results.
- The register facilitates research into chromosomal abnormality clustering and trends.
- CAROK serves as a valuable database for public health surveillance of genetic disorders.