Development and description of GETT: a genetic testing evidence tracking tool

Area of Science:

• Genetics
• Molecular Diagnostics
• Bioinformatics

Background:

• The Human Genome Project accelerates genetic marker discovery for diseases.
• Clinical application of genetic discoveries lags due to a lack of systematic data evaluation tools for molecular diagnostic tests.

Purpose of the Study:

• To develop a comprehensive tool for evaluating the evidence required for new molecular diagnostic tests.
• To facilitate the systematic collection and summarization of data for assessing the clinical utility of genetic tests.

Main Methods:

• A collaborative approach involving published tools and expert consensus.
• Development of a detailed checklist, termed the Genetic testing Evidence Tracking Tool (GETT).

Main Results:

• GETT is a 72-item checklist organized into 10 categories and 26 sub-themes.
• It covers disease epidemiology, genetics, diagnostic tools, analytical/clinical performance, quality control, guidelines, clinical utility, and ethical/legal implications.
• GETT aids in summarizing evidence, identifying research gaps, and improving stakeholder decision-making.

Conclusions:

• GETT provides a systematic, evidence-based framework for appraising molecular diagnostic tests.
• It streamlines evidence collection, enhances clinical application assessment, and prioritizes research for molecular diagnostic test implementation.