Considering seriousness in preconception carrier screening: a framework to support policy deliberation

The seriousness of a genetic condition has long been a central consideration in population-based screening programs. Yet, despite its widespread use in policy and practice, "serious" remains an ill-defined and multi-faceted concept. This lack of definitional clarity, complexity, and absence of guidance around how to interpret the concept has led to inconsistencies in application in policy and practice.

In this article, we use the example of preconception carrier screening (PCS) to expand on the procedural elements of our conceptual framework for considering seriousness and lay out questions to help guide and structure deliberations about gene panel composition in the context of PCS.

We argue that traditional attempts to operationalize seriousness, while useful, are insufficient for capturing the concept's complexity in population-based interventions. Instead, our framework - by integrating clinical, contextual, and experiential dimensions - encourages deliberation that reflects and is responsive to the diverse values and needs of communities affected by genetic conditions.

By fostering a balanced and context-sensitive approach, our framework offers a conceptual tool to help policymakers navigate the ethical complexities of PCS and support the development of PCS programs that are ethically defensible, socially responsible, and are aligned with the goals of community genetics.