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Implementing electronic informed consent in rare disease genomics

Ekholm, Katja ; Augustinsson, Annelie LU ; Sundström, Johan ; Johansen, Christian ; Storgärds, Maria ; Ljöstad, Lena ; Taylan, Fulya ; Ekblom, Eva ; Juran, Stephanie and Ek, Marlene , et al. (2025) In Scientific Reports 15(1).
Abstract

In rare disease research, sharing of individual health data is essential for advancing diagnostics and therapies, requiring robust and ethically sound informed consent processes. Within the Genomic Medicine Sweden Rare Diseases (GMS-RD) multicenter study, an electronic informed consent (eConsent) platform was developed to support data sharing, facilitate participation and enable research engagement. Tailored to the complex consent needs of rare disease contexts, the platform was piloted at three Genomic Medicine Centers in Sweden. A total of 2244 individuals were invited in the clinical routine cohort, with an overall eConsent rate of 18.6%. Uptake was highest among adult singletons (27.8%) and lowest in trios (14.3%). In contrast, the... (More)

In rare disease research, sharing of individual health data is essential for advancing diagnostics and therapies, requiring robust and ethically sound informed consent processes. Within the Genomic Medicine Sweden Rare Diseases (GMS-RD) multicenter study, an electronic informed consent (eConsent) platform was developed to support data sharing, facilitate participation and enable research engagement. Tailored to the complex consent needs of rare disease contexts, the platform was piloted at three Genomic Medicine Centers in Sweden. A total of 2244 individuals were invited in the clinical routine cohort, with an overall eConsent rate of 18.6%. Uptake was highest among adult singletons (27.8%) and lowest in trios (14.3%). In contrast, the Undiagnosed Diseases Network (UDN) Sweden cohort achieved a 94% consent rate, attributed to targeted communication and active patient organization involvement. Key challenges included technical accessibility limitations, digital literacy deficits, comprehension and language barriers, and the burden of multi-step processes, especially for families. Findings underscore the need to improve usability, strengthen communication, and implement flexible consent management over time. eConsent can broaden participation in genomic research and promote responsible data sharing. However, in rare diseases contexts, it must be designed with inclusivity, clarity, and adaptability to meet the diverse participant needs.

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publishing date
type
Contribution to journal
publication status
published
subject
keywords
Electronic informed consent (eConsent), Genomics, Rare diseases, Whole-genome sequencing
in
Scientific Reports
volume
15
issue
1
article number
44419
publisher
Nature Publishing Group
external identifiers
  • scopus:105025767071
  • pmid:41436845
ISSN
2045-2322
DOI
10.1038/s41598-025-32740-1
language
English
LU publication?
yes
id
61446228-aa52-4db5-8711-79224103c69b
date added to LUP
2026-02-11 13:47:02
date last changed
2026-02-12 15:10:26
@article{61446228-aa52-4db5-8711-79224103c69b,
  abstract     = {{<p>In rare disease research, sharing of individual health data is essential for advancing diagnostics and therapies, requiring robust and ethically sound informed consent processes. Within the Genomic Medicine Sweden Rare Diseases (GMS-RD) multicenter study, an electronic informed consent (eConsent) platform was developed to support data sharing, facilitate participation and enable research engagement. Tailored to the complex consent needs of rare disease contexts, the platform was piloted at three Genomic Medicine Centers in Sweden. A total of 2244 individuals were invited in the clinical routine cohort, with an overall eConsent rate of 18.6%. Uptake was highest among adult singletons (27.8%) and lowest in trios (14.3%). In contrast, the Undiagnosed Diseases Network (UDN) Sweden cohort achieved a 94% consent rate, attributed to targeted communication and active patient organization involvement. Key challenges included technical accessibility limitations, digital literacy deficits, comprehension and language barriers, and the burden of multi-step processes, especially for families. Findings underscore the need to improve usability, strengthen communication, and implement flexible consent management over time. eConsent can broaden participation in genomic research and promote responsible data sharing. However, in rare diseases contexts, it must be designed with inclusivity, clarity, and adaptability to meet the diverse participant needs.</p>}},
  author       = {{Ekholm, Katja and Augustinsson, Annelie and Sundström, Johan and Johansen, Christian and Storgärds, Maria and Ljöstad, Lena and Taylan, Fulya and Ekblom, Eva and Juran, Stephanie and Ek, Marlene and Malmgren, Charlotta Ingvoldstad and Soller, Maria Johansson and Friedman, Mikaela and Thunström, Sofia and Lovmar, Lovisa and Nordgren, Ann and Ehrencrona, Hans and Lindstrand, Anna}},
  issn         = {{2045-2322}},
  keywords     = {{Electronic informed consent (eConsent); Genomics; Rare diseases; Whole-genome sequencing}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Scientific Reports}},
  title        = {{Implementing electronic informed consent in rare disease genomics}},
  url          = {{http://dx.doi.org/10.1038/s41598-025-32740-1}},
  doi          = {{10.1038/s41598-025-32740-1}},
  volume       = {{15}},
  year         = {{2025}},
}