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

Area of Science:

• Biochemical Genetics
• Newborn Screening
• Community Health Initiatives

Background:

• The Plain population exhibits a high prevalence of metabolic disorders.
• Early intervention is critical for managing conditions like maple syrup urine disease (MSUD) and propionic acidemia (PA).
• Targeted screening is essential for at-risk communities.

Purpose of the Study:

• To identify individuals within the Plain population at risk for MSUD or PA.
• To facilitate early diagnosis and intervention for metabolic conditions.
• To provide accessible genetic testing to a high-risk community.

Main Methods:

• A statewide outreach project was implemented, targeting the Plain population.
• Health-care providers distributed blood spot testing kits for variant analysis of common MSUD and PA pathogenic variants.
• Community engagement included outreach to midwives and Plain population meetings.

Main Results:

• Eighty individuals underwent testing.
• Three adults were diagnosed with PA.
• One couple was identified as being at risk for having a child with PA.
• Genetic counseling was provided to affected individuals and at-risk couples.

Conclusions:

• The initiative successfully provided accessible clinical testing for MSUD and PA in a high-risk population.
• Early identification of at-risk couples lays the groundwork for prompt care of neonates.
• Improved clinical outcomes for newborns with MSUD and PA are anticipated.