Unit 2 summary

The overall objective of Unit 2 is to provide the genetic healthcare workers, the end-users and the health care authorities with a portfolio of quality-assured information sources and informatics tools that are subject to validation and quality procedures.

The specific objectives are:

1. To list the information pieces which are judged indispensable by all stake holders.
2. To define their format and procedure for data collection and validation.
3. To produce the information and release it in a friendly-to use format.
4. To evaluate the impact of the information on test referrals appropriateness and test consumption.

The second major objective is to avoid duplication and ensure consistency and inter-operability of databases in the field of genetic testing. The specific objectives are:

1. Identify overlapping resources through the report produced by objective 1.
2. Identify discrepancies in format which constitute obstacles to interoperability.
3. Reach agreement on solutions.
4. Implement solutions.

The databases which will be considered are databases on genetic diseases, genetic tests, mutation databases and sequence databases.

The third major objective is to improve the quality of existing information services. Many groups have produced guidelines for quality standards in health information on the web. It is time to transpose these guidelines in the Human Genetics Database field and to promote their respect by the database producers. The specific objectives are:

1. To produce a set of recommendations about quality standards, adapted to information resources on genetic testing in Europe.
2. To evaluate the available information resources against these criteria in collaboration with the responsible bodies.
3. To support the necessary evolution toward higher quality of the databases not fulfilling all criteria.

Last changed: 2008-09-04