Navigating an Uninformative Genomic Test Result: A Practical Guide.

Area of Science:

• Genetics
• Pediatrics
• Medical Diagnostics

Background:

• Genomic testing is a standard diagnostic tool for genetic conditions in children and adults.
• More than 50% of genomic tests provide uninformative results, hindering diagnosis.

Purpose of the Study:

• To offer a practical guide for pediatricians on managing uninformative genomic test results.
• To outline potential diagnostic pathways for uncovering genetic diagnoses in patients with uninformative results.

Main Methods:

• Guidance developed through input from genetic counselors, literature review, and a general pediatrician.
• A hypothetical case vignette is included to illustrate patient management options.

Main Results:

• Uninformative results can stem from incomplete phenotyping, novel genetic mechanisms needing specialized tests, or current knowledge gaps.
• Understanding the limitations of genomic testing is crucial when interpreting uninformative results.

Conclusions:

• Pediatricians are vital in supporting families during the diagnostic journey.
• Key roles include reassessing patient phenotypes, seeking sub-specialty consultations, and exploring alternative testing or research opportunities with genetics services.