Novel gene editing therapies being developed for hemophilia could represent a significant advance in treatment, should they reach commercialization and become available to patients. They encompass very complex concepts and technologies that prompt new considerations relevant to long term safety and efficacy.
One example of gene editing is Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR), a breakthrough technique for correcting a non-working gene, as opposed to gene transfer which introduces a new working copy of the gene. Research into potential disease applications for this type of therapy, including hemophilia, is ongoing. There is also one approved therapy for sickle cell disease that employs CRISPR-based technology.
The emergence of such unique therapies calls for plainspoken, accessible language to break down the various terms used to describe gene editing. An international group of authors therefore developed a gene editing lexicon designed to help facilitate clear communication of key concepts, not only for the edification of patients but to serve the shared decision-making (SDM) process with their healthcare providers. A recent article published in the journal Haemophilia describes the deliberate process of creating the lexicon, which included healthcare providers, people with hemophilia, caregivers, language strategy experts, and other key stakeholder groups.
The lexicon can help ensure the integrity of the informed consent process so that patients have a real understanding of the possible risks and benefits of such novel therapy as gene editing. Poor health literacy is associated with low adherence and sub optimal health outcomes overall, further highlighting the need for an informative, easy-to-understand tool for patients. The authors therefore emphasized the value of complementary infographics, multimedia resources, and other visuals aids as effective ways of illustrating critical concepts sharing health information.
“The overtly technical language might inhibit patient participation in treatment decisions, leading to poorer health outcomes and nonadherence. The infographics that were developed based on the gene editing lexicon emphasize plainspoken over technical language, with the goal of equipping lived experience experts (LEEs) with the knowledge required to fully participate in making shared healthcare decisions and promoting informed consent,” explained the authors. “Infographics have been shown to be an effective tool to support patient-centric and shared decision-making between LEEs and HCPs regarding gene therapy. HCPs could use such resources as visual aids during patient consultations when discussing gene editing. Therefore, we propose that these infographics would be useful in the setting of clinical trials and future prescriptions of licensed gene editing therapies.”
The paper cites several additional benefits. The availability of a free and readily accessible lexicon could represent cost savings for international patient organizations, allowing them to forgo the expensive process of creating a new educational publication. The authors suggest that this tool could be a valuable resource disseminated among HCPs, representing another knowledge-sharing opportunity that could ultimately enhance patient safety. To this end, the lexicon and its complementary infographics could be shared in face-to-face settings, clinical settings, seminars, online educational activities, and other events.
Possible identified barriers include copyright restrictions which could slow usage, disparate institutional approaches to its adoption, and attitudes/resistance to recognize the value of such a tool or reluctance to seek out alternative therapies
“There is an urgent need to promote education about novel therapies in the bleeding disorder community, including gene editing therapies. A lexicon developed through collaboration between key stakeholders in the haemophilia community shows promise as a potential vehicle to improve understanding of gene editing therapies,” concluded the authors. “Therefore, it is well positioned to have a functional and meaningful impact on this community through the development of educational materials, informed consent forms, and shared decision-making tools. Future efforts will focus on assessing improvements in understanding of CRISPR-based and other types of gene editing across the haemophilia community, with the goal of further improving the positive impact of this lexicon on patient care.”
Read the full open-access article to learn more about the development of the lexicon, see an illustrative example of gene editing infographic, and read about further applications.
Citation
McKeown W, Hermans C, Unzu C, Kay MA, Peyvandi F, Smith P, Miesbach W, Pierce GF, Khair K, Valentino LA, Pipe SW, Pillai M, Jones M, Delwart V, Sindhurakar A, Gutstein DE, Kessler CM. Operationalising a Haemophilia Gene Editing Lexicon for Practical Use. Haemophilia. 2025 Mar;31(2):207-213. doi: 10.1111/hae.15155. Epub 2025 Jan 27. PMID: 39868975.
Disclaimer: NBDF, through its Neil Frick Resource Center, provides periodic synopses of articles published in peer reviewed journals, the purpose of which is to highlight papers that cover a wide range of topics and relate to a broad spectrum of the inherited blood disorders community. Prior summaries have focused on topics such as shared decision making, gene therapy, health equity, and more. NBDF hopes you find this content to be informative and engaging.
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