DISCERN-Genetics: quality criteria for information on genetic testing

Area of Science:

• Genetics and Public Health
• Health Communication
• Bioethics

Background:

• Publicly available information on genetic testing is often inadequate for informed consent.
• Evolving genetic knowledge necessitates better resources for public understanding of genetic testing.
• Genetic testing decisions involve complex ethical and personal considerations.

Purpose of the Study:

• To develop and test criteria for appraising public information resources on genetic testing.
• To ensure that information provided to the public supports informed decision-making regarding genetic tests.
• To create a standardized tool for evaluating the quality of genetic testing information.

Main Methods:

• Criteria for information quality were developed and appraised by lay people and health professionals.
• A range of genetic conditions (e.g., cystic fibrosis, Huntington's disease) and information formats were included.
• Iterative testing using the weighted kappa statistic assessed inter-appraiser agreement on criteria effectiveness.

Main Results:

• A final set of 19 questions and an overall quality rating, the DISCERN-Genetics criteria, was established.
• Good inter-appraiser agreement (weighted kappa = 0.61) was achieved for the overall quality rating.
• The criteria effectively cover information scope, condition details, test procedures, results, decision-making support, and reliability.

Conclusions:

• The DISCERN-Genetics criteria provide a robust framework for producing and evaluating public information on genetic testing.
• These criteria will empower the public to make more informed choices regarding genetic screening and testing.
• Improved information quality is crucial for navigating the complexities of genetic knowledge and its implications.