P214: Inequities in eligibility for cystic fibrosis modulator therapy based on pathogenic/likely pathogenic CFTR gene variants identified through carrier screening

While past treatments for cystic fibrosis (CF) focused on symptom management, the development of targeted highly effective modulator therapy (HEMT) has dramatically improved outcomes for CF patients. Patients with CF are only eligible for HEMT if they have at least one CFTR variant that meets eligibility criteria. Modulator therapy acts on existing CFTR proteins and thus requires some protein production. Of the over 2,000 CF-causing gene variants, around 10% are ineligible for HEMT, some because they result in no protein production and others because HEMT has not been validated for these gene variants despite being effective in theory.