OBJECTIVES: In 2006, the ACMG recommended a uniform set of conditions to screen in state programs. The objective of this research is to explore the influence of uncertainty on the BIOT recommendation as a core condition and identify if missing responses could have changed the final score and, potentially, the recommendation. The final score was derived through an algorithm which allocated the condition into Core, Secondary target or not recommended for NBS corresponding to ACMG survey scores greater than 1200, between 1000 and 1200, and below 1000 respectively. Scores resulted from a weighted scoring of 18 questions developed by ACMG. BIOT had an initial total score of 1566, so we are interested only in the potential for lower scores.

METHODS: ACMG reported data for only 2 survey questions. The effect of missing data was estimated for the “incidence” and the “confirmation of diagnosis” questions using boundary estimates (Manski, 1989). By selecting the worst and best possible scores for the missing responses, we recalculated the final score to identify if this uncertainty would have potentially changed the recommendation.

RESULTS: 1 response was missing for the first question (the other question had 1 score changed to a conservative estimate). The total score change for the two variables gave a combined decrease of approximately 1, changing the total score to 1565. Our result did not lead to us to question the ACMG recommendation.

CONCLUSIONS: This analysis understates the uncertainty from missing responses in 2 out of the 18 questions in the survey. The total score was not altered enough to potentially downgrade the recommendation to a secondary target. A further examination of missing data for all questions (an additional 25 missing data points) and other uncertainties (e.g. sampling variation) is warranted to fully account for their potential influence.