Background: Newborn Screening (NBS) is a state-run public health program, which screens infants at birth for congenital conditions that may cause significant disability or death without prompt intervention. Carriers of sickle cell disease (SCD) are incidentally identified in the screening process yet are generally considered to be healthy. States’ policies regarding the incidental finding vary. Sharing the result challenges the traditional scope of NBS, and the history of sickle cell screening in the United States cautions against the program’s potential harms. States’ programs that do disclose positive sickle cell trait (SCT) status are primarily motivated by its reproductive implications. These programs notify stakeholders through a variety of means. This study sought to evaluate the impact of SCT notification on families in Pennsylvania, who are informed via a mailed letter.
Methods: Parents in Western Pennsylvania who received the SCT notification letter within the past year were surveyed regarding their understanding of SCD, anxiety related to the notification, and anticipated sharing of the health information.
Results: Ninety-four of 434 notified families completed the survey by mail and telephone. Over 36% of respondents were unclear of the inheritance pattern of SCD, and 29% incorrectly answered that SCT could develop into SCD. The greatest misunderstanding was found regarding Hemoglobin C trait and specific reproductive risks. The letter elicited anxiety in approximately one-third of parents. Over 90% of respondents planned to discuss the letter with their partner, their infant’s primary care provider, and their infant at an older age.
Conclusions: The current notification letter inadequately conveys the health and reproductive implications of SCT and may contribute to anxiety in a meaningful proportion of parents. These findings support the utility of follow-up services in promoting understanding and minimizing stress related to carrier identification through NBS. Parents appear to appreciate the relevance of the information, based on their intent to share it with appropriate family and healthcare providers. Further research is needed to clarify additional effects of the program, in particular for the infant, who should be a primary beneficiary of NBS.
Public Health Significance: This study may inform policies regarding disclosure of SCT status through NBS
