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Updated: Jun 25, 2025

Using SCOPE to Identify Potential Regulatory Motifs in Coregulated Genes
Published on: May 31, 2011
Beyond severity: utility as a criterion for setting the scope of RGCS
Lisa Dive1, Anne-Marie Laberge2, Lucinda Freeman3
1Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia. lisa.dive@uts.edu.au.
Reproductive genetic carrier screening (RGCS) should prioritize utility over severity when selecting conditions. This approach better supports reproductive decision-making by focusing on the value of information, not just condition severity.
Area of Science:
- Reproductive genetics
- Medical ethics
- Genetic counseling
Background:
- Reproductive genetic carrier screening (RGCS) helps prospective parents assess risks for genetic conditions.
- Severity is a common but complex and subjective criterion for including conditions in RGCS.
- Contested determinations of severity can hinder equitable screening program development.
Purpose of the Study:
- To propose 'utility' as a more appropriate criterion for selecting genetic conditions in RGCS.
- To argue for utility's advantages over severity in guiding reproductive screening scope.
- To provide ethical and practical justifications for this shift in criteria.
Main Methods:
- Conceptual analysis of 'severity' versus 'utility' in the context of RGCS.
- Examination of how utility integrates clinical and personal factors in reproductive decision-making.
- Evaluation of ethical implications of using utility over severity.
Main Results:
- Utility is context-dependent, directly linking RGCS information value to reproductive decision-making.
- Utility encompasses clinical and personal aspects, influenced by available reproductive options (e.g., PGT, PND, termination).
- Shifting to utility circumvents subjective quality-of-life judgments associated with severity.
Conclusions:
- Utility should replace severity as the primary justification for including genetic conditions in RGCS programs.
- Focusing on utility enhances the practical and ethical framework of reproductive genetic screening.
- This approach supports informed reproductive choices by prioritizing actionable information.
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