Exploring the role of digital tools in rare disease management: An interview-based study

Andrea Chang; Sarah D Huang; Daniel J Benjamin; Johanna L Schmidt; Christina G S Palmer; Nanibaa' A Garrison

doi:10.1002/jgc4.1908

Exploring the role of digital tools in rare disease management: An interview-based study

J Genet Couns. 2024 May 13. doi: 10.1002/jgc4.1908. Online ahead of print.

Authors

Andrea Chang¹, Sarah D Huang², Daniel J Benjamin^{1

3

4}, Johanna L Schmidt⁵, Christina G S Palmer^{1

2

6}, Nanibaa' A Garrison^{2

7

8}

Affiliations

¹ Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
² Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, California, USA.
³ Behavioral Decision Making Group, Anderson School of Management, University of California, Los Angeles, Los Angeles, California, USA.
⁴ National Bureau of Economic Research, Cambridge, Massachusetts, USA.
⁵ Westside Genetic Counseling, Los Angeles, California, USA.
⁶ Department of Psychiatry & Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, California, USA.
⁷ Institute for Precision Health, University of California, Los Angeles, Los Angeles, California, USA.
⁸ Division of General Internal Medicine and Health Services Research, University of California, Los Angeles, Los Angeles, California, USA.

PMID: 38741243
DOI: 10.1002/jgc4.1908

Abstract

While digital tools, such as the Internet, smartphones, and social media, are an important part of modern society, little is known about the specific role they play in the healthcare management of individuals and caregivers affected by rare disease. Collectively, rare diseases directly affect up to 10% of the global population, suggesting that a significant number of individuals might benefit from the use of digital tools. The purpose of this qualitative interview-based study was to explore: (a) the ways in which digital tools help the rare disease community; (b) the healthcare gaps not addressed by current digital tools; and (c) recommended digital tool features. Individuals and caregivers affected by rare disease who were comfortable using a smartphone and at least 18 years old were eligible to participate. We recruited from rare disease organizations using purposive sampling in order to achieve a diverse and information rich sample. Interviews took place over Zoom and reflexive thematic analysis was utilized to conceptualize themes. Eight semistructured interviews took place with four individuals and four caregivers. Three themes were conceptualized which elucidated key aspects of how digital tools were utilized in disease management: (1) digital tools should lessen the burden of managing a rare disease condition; (2) digital tools should foster community building and promote trust; and (3) digital tools should provide trusted and personalized information to understand the condition and what the future may hold. These results suggest that digital tools play a central role in the lives of individuals with rare disease and their caregivers. Digital tools that centralize trustworthy information, and that bring the relevant community together to interact and promote trust are needed. Genetic counselors can consider these ideal attributes of digital tools when providing resources to individuals and caretakers of rare disease.

Keywords: caregivers; complex disease; digital tools; disability; parents; rare disease.

Abstract

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