Current controversies in traditional and expanded carrier screening

Area of Science:

• Reproductive genetics
• Medical genomics
• Clinical diagnostics

Background:

• Expanded carrier screening (ECS) for autosomal recessive and X-linked diseases is increasingly used.
• Professional society guidelines and research inform ECS implementation.
• Understanding ECS rationale, decision-making, and methods is crucial.

Purpose of the Study:

• To review the current landscape of expanded carrier screening.
• To provide recommendations for clinical practice based on literature and experience.
• To outline a chronological approach to carrier screening.

Main Methods:

• Literature review of pre- and post-test education, genetic counseling, and laboratory test characteristics.
• Analysis of survey data from obstetricians and genetics providers.
• Synthesis of findings to propose practice protocols.

Main Results:

• Key areas include pre- and post-test education and genetic counseling.
• Laboratory test characteristics vary and impact screening.
• Provider surveys offer insights into optimal practices.

Conclusions:

• Carrier screening should be approached chronologically: pre-test, test selection, and post-test disclosure.
• Recommendations for practice protocols are based on current evidence.
• Integrating laboratory and clinical experience is vital for effective ECS.