Beliefs and Values About Gene Therapy and In-Utero Gene Editing in Patients with Hemophilia and Their Relatives.

aimHemophilia is an inherited disease for which current treatment is noncurative. While gene therapy and gene editing are being researched, we do not know how the hemophilia community perceives them. Herein, we explore the beliefs and values regarding these new therapies in patients with hemophilia and their relatives.

methodsThis qualitative study used phone-based semi-structured interviews on 21 adult English-speaking patients with hemophilia A or B and their parents across the United States during March to July 2019. The study was advertised through different chapters of the Hemophilia Foundation. The interview guide included questions about participants' prior experience with hemophilia, and included two case scenarios about the use of gene therapy and in utero gene editing, after which participants were asked about their opinions, beliefs, and values on each scenario. We used a grounded theory approach and identified the main themes using an inductive process.

resultsWe interviewed 21 participants-12 patients and 9 mothers. Most of them had or were related to a patient with severe disease. The main themes discussed were related to efficacy, safety and financial concerns and insurance coverage for both gene therapy and in utero gene editing. Patients and their parents had expected outcomes in terms of durability of therapy and impact on emotional health and lifestyle changes in the long term. Gene therapy was more accepted among patients with severe and uncontrolled disease. In-utero gene editing was not completely accepted because of safety and ethical issues.

conclusionPatients with severe hemophilia perceive gene therapy as a potential cure, while gene editing was more controversial. Patients still have questions that remain to be answered regarding safety and efficacy that should be assessed with long-term follow up studies.