Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a...

Area of Science:

• Medical Genetics
• Public Health
• Genetic Screening

Background:

• Cystic fibrosis and hemoglobinopathies are genetic disorders with varying carrier frequencies based on ancestry.
• Effective carrier screening strategies are crucial for reproductive health and preventing genetic diseases.
• Developing accessible and accurate screening tools is essential for targeted genetic counseling.

Purpose of the Study:

• To develop and evaluate a decisional instrument for ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands.
• To assess the accuracy of the instrument in determining couples' eligibility for screening based on ancestral origin.
• To determine user preference between two developed instrument formats (flowchart vs. questionnaire).

Main Methods:

• Development of a flowchart (Instrument A) and a questionnaire with geographical maps (Instrument B) for self-assessment of screening eligibility.
• Comparison of instrument-based eligibility assessment with in-depth interview data on ancestral origins.
• Evaluation of user preference between Instrument A and Instrument B.

Main Results:

• High accuracy rates were observed: 88% with Instrument A and 91% with Instrument B correctly identified eligibility based on ancestry.
• Instrument B (questionnaire) was preferred by 57% of participants.
• A false negative rate of 5.5% indicates potential self-exclusion from screening among carriers, suggesting areas for improvement.

Conclusions:

• An effective decisional instrument for ancestry-based carrier screening for cystic fibrosis and hemoglobinopathies is available for use in the Netherlands.
• The instrument can be adapted for use in other countries and accommodates individuals with mixed ancestry.
• Minor modifications, such as improved geographic specificity and translated versions, could further enhance the instrument's utility.