ACMG position statement on prenatal/preconception expanded carrier screening.

Area of Science:

• Reproductive genetics
• Genetic screening technologies
• Clinical genetics

Background:

• Traditional gene-by-gene carrier screening is limited in scope.
• Next-generation sequencing (NGS) enables broader, more efficient carrier screening.
• Current practices require careful consideration of expanded panel implications.

Purpose of the Study:

• To discuss the benefits and challenges of expanded carrier screening panels.
• To emphasize the need for transparency in disorder selection and result interpretation.
• To highlight the importance of patient counseling regarding residual risk and opt-out options.

Main Methods:

• Review of current carrier screening practices.
• Analysis of NGS capabilities for expanded carrier screening.
• Discussion of ethical and counseling considerations.

Main Results:

• NGS allows for high-fidelity, rapid, and cost-effective screening of numerous genetic disorders.
• Expanded panels necessitate clear disclosure of selection criteria and disorder characteristics (e.g., mild phenotypes, adult onset).
• Patients must be informed about residual risk and have the option to decline results for certain conditions.

Conclusions:

• Expanded carrier screening panels offer significant advantages but require careful implementation.
• Transparent communication and comprehensive patient counseling are essential for ethical and effective use of these technologies.
• Laboratories play a vital role in facilitating informed decision-making for patients undergoing genetic screening.