Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.

Area of Science:

• Genomic Medicine
• Clinical Diagnostics
• Bioinformatics

Background:

• Advancements in next-generation sequencing (NGS) have increased accessibility and reduced costs for genetic analysis.
• This has led to a rise in elective genomic testing, chosen by patients without a specific clinical indication.
• The diverse range of available tests presents challenges in selection due to varying sensitivity and specificity.

Purpose of the Study:

• To address the difficulty in choosing among elective genomic tests.
• To introduce a framework for evaluating the quality of genomic tests.
• To provide a structured approach for comparing different genomic testing options.

Main Methods:

• Development of a framework termed "completeness".
• Evaluation of both analytical and interpretative components of genomic tests.
• Application of the framework to the current landscape of elective genomic testing.

Main Results:

• The proposed "completeness" framework offers a standardized method for assessing genomic tests.
• The framework facilitates comparison of tests based on their technical rigor and interpretive depth.
• Illustrative examples demonstrate the framework's utility in navigating the expanding market of elective genomic tests.

Conclusions:

• A standardized framework is needed to evaluate elective genomic tests.
• The "completeness" framework provides a valuable tool for patients and clinicians.
• This framework aids in informed decision-making for genomic testing in the absence of clinical indications.