Expanded carrier screening: A current perspective.

Area of Science:

• Genetics
• Reproductive Medicine
• Clinical Diagnostics

Background:

• Prenatal carrier screening has broadened to encompass numerous genes for couples planning pregnancy or already pregnant.
• Expanded carrier screening identifies carriers for single-gene disorders beyond traditional guidelines, including rare and mild conditions.

Purpose of the Study:

• To evaluate the clinical utility and implications of expanded carrier screening panels.
• To emphasize the need for prioritizing severe childhood-onset disorders in screening panels.
• To address the importance of genetic counseling, psychosocial support, and accurate result interpretation.

Main Methods:

• Review of current expanded carrier screening panel content and clinical recommendations.
• Analysis of the scope of genetic conditions included in expanded panels.
• Consideration of the impact on healthcare systems and cost-effectiveness.

Main Results:

• Expanded panels include a wide array of genetic conditions, some with low carrier frequency or mild phenotypes.
• The clinical utility of comprehensive panels remains under discussion.
• Potential for misinterpretation of results and significant impact on healthcare resources exist.

Conclusions:

• Carrier screening panels should prioritize severe, childhood-onset genetic disorders.
• Essential components include pre-screening genetic counseling, psychosocial support, and robust systems for result interpretation.
• Careful consideration of healthcare organizational impact and cost burden is necessary.