Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population

作者：Kuhl Ashley; van Calcar Sandra; Baker Mei; Seroogy Christine M; Rice Gregory; Schwoerer Jessica Scott^*

来源：Genetics in Medicine, 2017, 19(3): 352-356.

DOI：10.1038/gim.2016.104

• carrier testing
• maple syrup urine disease
• propionic acidemia
• Plain population

Purpose: This community project is an initiative through the University of Wisconsin Biochemical Genetics Clinic and the Wisconsin Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA) or who have PA.
Methods: Because of the high prevalence of metabolic conditions in the Plain population and the importance of early intervention, a statewide outreach project was developed to provide targeted variant analysis of the common MSUD and PA pathogenic variants in this population through health-care provider distribution of blood spot testing kits. Awareness was achieved through outreach efforts with the state midwives guild and Plain population meetings.
Results: Eighty individuals were tested; diagnosis was confirmed for three adults with PA and one couple was identified as being at risk for having a child with PA. Genetic counseling was provided to those identified. Follow-up diagnostic testing was completed for the at-risk couple's children; none were found to be affected.
Conclusion: This initiative successfully provided accessible clinical testing for MSUD and PA for a high-risk population. Early identification of at-risk couples sets the foundation for early care of at-risk neonates, thereby improving future clinical outcomes.

• 出版日期2017-3