Precision reproductive medicine: multigene panel testing for infertility risk assessment

Area of Science:

• Reproductive Medicine
• Genetics
• Precision Medicine

Background:

• Precision medicine integrates individual genetic profiles and environmental exposures for tailored healthcare.
• Accurate genetic risk assessment is crucial for implementing individualized care.
• Multigene panel testing is emerging as a tool for evaluating genetic risk in female infertility.

Purpose of the Study:

• To review the core concepts of multigene panel testing for risk assessment in reproductive medicine.
• To discuss the potential benefits and shortcomings of multigene panel testing in this field.
• To highlight challenges in interpreting genetic variants and guiding clinical management.

Main Methods:

• Review of current literature on multigene panel testing.
• Analysis of challenges encountered in oncology applications of multigene panel testing.
• Discussion of the applicability and limitations in reproductive medicine.

Main Results:

• Multigene panel testing provides a more comprehensive risk evaluation than single-gene tests for female infertility.
• Challenges include interpreting variants of uncertain significance and a lack of management guidelines.
• Lessons from breast cancer risk assessment highlight the need for judicious use.

Conclusions:

• Multigene panel testing holds promise for enhanced genetic risk assessment in female infertility.
• Careful consideration of variant interpretation and clinical utility is essential for successful implementation.
• Further evidence is required to guide management decisions based on multigene panel testing results.