THE IMPORTANCE OF FACT OVER OPINION IN CHOICE OF CONDITIONS TO BE RECOMMENDED FOR NEWBORN SCREENING (NBS)

Author(s)

Rittenhouse B
MCPHS University, Boston, MA, USA

OBJECTIVES: In 2006, the American College of Medical Genetics (ACMG) recommended expanding NBS. Recommendations relied largely on a stakeholder survey on 19 attributes of different rare conditions under consideration. The percentage of respondents agreeing to an attribute’s presence determined its score. This research examines one particular attribute and asks how the recommendation of included conditions changes with the substitution of scoring based on the actual facts for that based on surveyed opinion. METHODS: The original report indicated each condition’s scores for survey questions.  Unlike some questions, that of whether multiplex technologies (allowing multiple conditions to be screened with a single test) were available, had a correct answer.   Original scores for the question totaled between 0-200, depending on the respondents’ percentage indicating yes. Answers were re-scored 200 or 0 as factually appropriate - existence/non-existence of multiplex screening for each condition. RESULTS: After eliminating conditions with missing data, 78 out of the original 84 conditions remained.  42 conditions (54%) increased their scores; 30 (38%) decreased. Of conditions with increasing scores, the mean increase was 85. Of conditions decreasing their scores, the mean decrease was 43. We estimate the potential change in recommendations as 4 conditions moving from the Core to secondary or Not Recommended and 10 moving from Secondary to Core status. CONCLUSIONS: As the only conditions capable of having recommendations altered by this correction were those roughly 200 points +/- category cutoffs and some ACMG rules further limited reclassification, this single correction was limited in its ability to alter recommendations (67% of the conditions could not change).  Nonetheless the changes were significant (of those that could change, 50% did).  As other questions in the survey were also questions of fact, doing a similar analysis for all such questions could further significantly alter the conditions recommended for the panel. 

Conference/Value in Health Info

2014-05, ISPOR 2014, Palais des Congres de Montreal

Value in Health, Vol. 17, No. 3 (May 2014)

Code

PSY80

Topic

Health Service Delivery & Process of Care

Topic Subcategory

Treatment Patterns and Guidelines

Disease

Rare and Orphan Diseases

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