OBJECTIVES: In 2006 the American College of Medical Genetics (ACMG) developed a stakeholder survey to make recommendations for 84 rare conditions to be considered for mandatory newborn screening (NBS). Scores of 19 different surveyed attributes for each condition were totaled. These scores determined an entry point to an algorithm (EPA) that determined final recommendations (Core conditions, Secondary Targets or Not Recommended). Among these attributes was a controversial one - non-patient benefits (NPB). Such attributes have historically not been considered in mandatory screening recommendations. This analysis examines how the exclusion of this attribute would affect recommendations.
METHODS: The ACMG report provided scores for individual attribute survey responses. We deleted the attribute score for NPB (0 to 100 points) and rescored the totals for each condition. We then assessed whether score changes were sufficient to alter the EPA and whether a different EPA would result in changes to the recommendations.
RESULTS: Six conditions had missing data. Of the 78 remaining, there were 15 conditions (19%) whose initial total scores were capable of changing by enough in this exercise (maximum 100 point reduction) to change the EPA. Of those, 10 (67%) did change EPA and, of those, 3 (30%) changed final category (in all cases from Core to ST). Of the initial 29 recommended Core conditions, there would be a 10 percent reduction to 26 and an increase in Secondary Targets from 25 to 28.
CONCLUSIONS: Including screening benefits to non-patients (family or society) is controversial and has not been standard in the past. We have shown that in the ACMG recommendations, had no changes been made to the algorithm consequent to dropping non-patient benefits from consideration, 3 conditions would have changed from a Core recommendation for screening to only a Secondary Target.
