Building a gene editing lexicon: a model for rare and inherited disorders
As more advanced cell and gene therapies, including gene editing technologies, progress through drug development, there is increased emphasis on the importance of stakeholders, including people living with disease, caregivers, and healthcare professionals, to communicate using clear, accurate, and consistent language. Lexicons explaining advanced gene therapies will support patients' and clinicians' understanding, enabling shared decision-making and informed consent for clinical trial participation and, in the future, healthcare choice. Early lexicon development is crucial for standardizing communication across clinical sites, geographies, clinicians, and patients. A lexicon for clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR-Cas9) gene editing for hemophilia was developed using comprehensive methodologies, gathering insight through qualitative research and in-depth interviews, language audits, and workshops, with input from lived experience experts, leading clinicians in hemophilia, gene therapy experts, and scientific and patient organizations. This lexicon serves as a gold standard template for future comprehensive patient lexicon development strategy and could be applied to other therapeutic areas where treatments are being developed and standardized, or where accessible vocabulary for patients, healthcare professionals, and the affected community is lacking. This communication highlights the need for lexicon development for advanced gene editing treatments across therapeutic areas to support standardized understanding and enhance communication.
Authors
- William McKeown (ORCID: https://orcid.org/0009-0006-1916-041X)
- David E. Gutstein (ORCID: https://orcid.org/0000-0001-7776-3477)
- Craig M. Kessler (ORCID: https://orcid.org/0000-0003-0599-5724)
- Donna Coffin (ORCID: https://orcid.org/0000-0001-8372-4474)
- Carmen Unzu (ORCID: https://orcid.org/0000-0002-1582-7196)
- Leonard A. Valentino
- Cedric Hermans
- Wolfgang Miesbach
- Maria Elisa Mancuso
- Micheala Jones
Institutions
- Goethe University Frankfurt (DE)
- Cliniques Universitaires Saint-Luc (BE)
- Humanitas University (IT)
- Georgetown University (US)
- Regeneron (United States) (US)
- Canadian Hemophilia Society (CA)
- Antrim Area Hospital (GB)
- Hemophilia Center of Iran (IR)
- University Hospital Frankfurt (DE)
- Clinica Universidad de Navarra (ES)
- Indiana Hemophilia and Thrombosis Center (US)
- IRCCS Humanitas Research Hospital (IT)
- Universidad de Navarra (ES)
Publication Details
- Journal
- Gene Therapy
- Published
- 2026-03-13
- DOI
- https://doi.org/10.1038/s41434-026-00596-3
- Primary Topic
- Hemophilia Treatment and Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Université Catholique de Louvain
- Rush University
- Regeneron Pharmaceuticals
- Humanitas Research Hospital
- Cliniques Universitaires Saint-Luc