Carrier detection in childhood: a need for policy reform

Lainie Friedman Ross

Current policy statements discourage identification of disease carrier status in minors on the grounds that carrier information is of mainly reproductive significance. Such policies fail to consider that the carrier state may have important health implications for minors. They also fail to consider that carrier status of newborns is routinely discovered as an incidental finding in newborn screening programs. Finally, such policies fail to take into account that it may not be parents but adolescents who are seeking out this information and that adolescence may be a valid time to learn about one's reproductive risks. Here, I consider the issues that need to be addressed in revising current policies about the carrier detection of minors.