ShareDNA: a smartphone app to facilitate family communication of genetic results

Abstract

Background Genetic testing allows patients and clinicians to understand the risk of hereditary diseases. By testing early, individuals can make informed medical decisions about management which may minimize the risk of developing certain diseases. Importantly, genetic test results may also be applicable to patients’ biological relatives; thus, these results could also lead to minimizing their risk of disease. However, sharing genetic test results between patients and their relatives is scarce. The most frequently reported problems are that patients cannot clearly explain this information and relatives misinterpret the results. Smartphone apps in the healthcare field are a possible solution as they allow patients to accurately share sensitive information to others, while providing educational material to support understanding the information. However, these apps may not provide security to protect patients’ identifiable information. We developed ShareDNA, a smartphone app that (1) allows patients to securely share their genetic test results with others, (2) provides information on how to interpret these results, and (3) minimizes the amount of patient information needed to use the service. Results We recruited thirteen participants to test the usability of our app and provide feedback. We found overall that participants were comfortable with using this app and could easily learn each app function when filling out our questionnaire. Additionally, based on vocalized impressions of the usefulness of the app, participants indicated that the user-interface could be more intuitive and that we needed to add more text within the app to explain why ShareDNA is a secure service. Conclusions ShareDNA is a free smartphone app that allows patients to share their genetic test results with others, including their biological relatives. Sharing these results along with educational material will enable relatives to share accurate information and discuss their possible risk for disease with their clinical providers. As a result, appropriate testing in relatives could be improved.

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

“…However, ongoing studies, such as the IMPACT-FH (Identification Methods, Patient Activation, and Cascade Testing for FH) study ( Campbell-Salome et al, 2021 ), are exploring strategies that increase the uptake of cascade testing in population-based screening programs. However, learnings from the diagnostic setting may provide some insights, including the availability of clinician-drafted letters ( Newson and Humphries, 2005 ; Suthers et al, 2006 ; Hadfield et al, 2009 ; Dilzell et al, 2014 ; Petersen et al, 2019 ; Kurian and Katz, 2020 ; Neuner et al, 2020 ), access to support from foundations focused on a single condition or clinical area ( Bell et al, 2015 ; Wald et al, 2016 ; McGowan et al, 2021 ), and access to educational materials that are easily shared outside of a clinical setting ( Kardashian et al, 2012 ; Petersen et al, 2019 ; Bowen et al, 2020 ; Jujjavarapu et al, 2021 ; Nazareth et al, 2021 ; Nitecki et al, 2021 ; Snir et al, 2021 ). When considering approaches to encouraging at-risk relatives to ultimately seek cascade testing, programs have been designed to offer cascade testing at reduced rates or at no-charge for relatives ( Aktan-Collan et al, 2007 ; Caswell-Jin et al, 2019 ; Courtney et al, 2019 ; Invitae, 2021 ).…”

The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy—A systematic review and meta‐analysis

“…These findings underscore the need for novel methods for disseminating genetic risk information in families and equipping relatives to act on this information. Numerous studies have investigated the acceptability and utility of direct‐contact methods and technology interventions to assist with cascade screening (Haas et al, 2021; Jujjavarapu et al, 2021; Schmidlen et al, 2019; Sturm, 2016), and such approaches should continue to be explored. Although not specifically analyzed in this review, we identified five studies demonstrating the cost‐effectiveness of genetic testing and cascade screening for HCM, derived from cessation of cardiac screening for genotype‐negative relatives.…”

“…ogy interventions to assist with cascade screening(Haas et al, 2021;Jujjavarapu et al, 2021;Schmidlen et al, 2019;Sturm, 2016), and such approaches should continue to be explored. Although not specifically analyzed in this review, we identified five studies demonstrating the cost-effectiveness of genetic testing and cascade screening for HCM, derived from cessation of cardiac screening for genotype-negative relatives.…”

Securing Group Patient Communication in 6G-Aided Dynamic Ubiquitous Healthcare with Real-Time Mobile DNA Sequencing

“…who communicate with each other for conducting group services. DNAbased U-healthcare includes various services, namely, disease virus control, body fluid monitoring, blood-based prognostic tracking, and so on [3,40]. Taking family healthcare services as an example, multiple members P i in a family may request a common DNA-based healthcare service provided by S j .…”