Entanglements of care, hope and life – Rare disease patients expectations about clinical gene editing
Karoliina Snell, Roosa Harmo & Kirmo Wartiovaara (University of Helsinki, Finland)
Panel: Care in rare diseases
Abstract: Research with CRISPR-Cas9 based gene editing technologies have been shown to correct mutations in patient cells and thus possibly curing the disease, not only its symptoms. In future, these technologies are expected to lead to clinical applications, especially for patients with monogenic diseases. Although genome editing has the potential to improve the lives of people, its use it not without its challenges – both related to the individual patients as well as technical, ethical, financial and social challenges. We approach these challenges from the viewpoint of rare disease patients, who could potentially be the first ones to encounter care by gene editing. We interviewed 11 patients with four different rare diseases in Finland. The interview topics included the experiences of living with a rare genetic disease; the participants understanding about gene editing; expectations about the risks and benefits of gene editing; and the participants’ account of the decision-making process in treatment decisions.
Our analysis shows how expectations of care and cure where entangled with each person’s life situation, the disease and its stage and symptoms. Gene editing seemed elusive to patients but at the same time, it could be considered as continuum of the different therapies already tried or in use. In general, the possibilities of gene editing ware regarded as positive news. However, choosing to undergo gene editing was not evident. In this presentation, we dwell into the many ways patients balance uncertainties, histories and current life situation against risks and possibilities of gene editing.