Late-onset diseases and patient education: additional considerations for polygenic risk score regulation

Area of Science:

• Genetics and Bioethics
• Reproductive Medicine
• Public Health Policy

Background:

• Polygenic risk scores (PRSs) are emerging tools for assessing genetic predisposition to complex diseases and traits.
• Current ethical and regulatory discussions on PRSs in embryonic screening require further development to address potential societal impacts.
• Haining et al. proposed considerations for PRSs in embryonic screening, highlighting the need for ethical and regulatory frameworks.

Purpose of the Study:

• To identify and address crucial ethical and regulatory issues overlooked in the current discourse on polygenic risk scores (PRSs) for embryonic screening.
• To propose specific regulatory considerations for the use of PRSs in screening for adult-onset diseases, emphasizing disease severity and age of manifestation.
• To advocate for enhanced patient education strategies regarding manageable diseases identified through PRS screening and to protect patient autonomy.

Main Methods:

• Critical analysis and response to existing literature on polygenic risk scores (PRSs) in reproductive genetics.
• Comparative review of global approaches to embryonic genetic testing frameworks.
• Ethical reasoning and policy recommendation development based on identified gaps in current PRS guidelines.

Main Results:

• Current ethical and regulatory discussions on PRSs for embryonic screening inadequately address critical issues.
• Regulations for adult-onset diseases must consider predictive accuracy, disease severity, and age of symptom onset.
• Effective patient education is needed to address social biases and ensure informed decision-making without compromising genetic counselor impartiality.

Conclusions:

• Frameworks for polygenic risk score (PRS) implementation in embryonic screening must prioritize patient autonomy and address unique uncertainties.
• Nations need to establish clear guidelines for PRS testing circumstances, focusing on disease impact and manageability.
• Integrating PRS into embryonic screening necessitates robust ethical oversight, informed consent processes, and unbiased patient counseling.