DNA Unicorn: An N-of-1 Community Advocacy Resource
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Authors
Knickle, Allison
Laut, Taylor
Magnussen, Kari
Vivien, Marianne
Issue Date
2017-05-01
Type
thesis_open
Language
Keywords
Genetics
Alternative Title
Human Genetics Theses
Abstract
With the wider use of genetic testing, an increasing number of people are receiving molecular diagnoses of ultra-rare or N-of-1 diseases. The medical and psychosocial challenges of these individuals are compounded by a lack of support and advice from disease-specific communities. A website ( www.dnaunicorn.org) was developed to help N-of-1 families connect with caregivers, researchers, and patients with the same or related medical conditions. The site provides directions and links to resources to facilitate data-sharing through access to databases, and aids in the construction of social media campaigns to connect genotypically- or phenotypically-related patients and families to each other. Furthermore, the website provides step-by-step instructions and templates for users to optimize their use of Twitter, Facebook, GenomeConnect, MyGene2 and other potential avenues to find and build a community. Fourteen genetic counselors provided feedback by answering seven questions on the usefulness of an early version of the web-based tool kit. Free text responses were also elicited. Five themes emerged in qualitative analysis of their responses: aesthetics, language, resource choice, how-to guide utility, and overall clinical utility. Aesthetics was mentioned most frequently, with eight genetic counselors commenting on font size and text placement. Responses to the website were overwhelmingly positive; 100% of participants agreed that it would be useful in clinical practice and would refer patients to the website. Counselors also described a need for more resources for families with N-of-1 or ultra-rare molecular diagnoses, which our site attempts to address.