Which statement describes the impact of a founder variant on screening strategies?

• A. It eliminates the need for any screening.
• B. It has no impact on screening strategies.
• C. It requires population-wide universal screening for all groups.
• D. It leads to population-specific carrier screening.

Answer: (D)

When a variant is a founder variant, it is unusually common in a specific population because many individuals descend from a common ancestor. This increases the carrier frequency within that group and informs how screening should be designed. With this pattern, screening can be tailored to test the variants most likely to be encountered in that population, making it more efficient and cost-effective. In practice, this leads to population-specific carrier screening, focusing on the high-frequency mutations relevant to that group rather than applying the same panel to everyone. Eliminating screening or claiming there is no impact ignores the altered allele frequencies, and universal screening for all groups would not be as efficient given the population-specific risk.