Patient-facing digital tools for delivering genetic services: a systematic review

Abstract

This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were searched for articles published between January 2010 and March 2021. Studies evaluating the use of patient-facing digital tools in the context of genetic service delivery were included. Two reviewers screened and extracted patient-reported and system-focused outcomes from each study. Data were synthesised using a descriptive approach. Of 3226 unique studies identified, 87 were included. A total of 70 unique digital tools were identified. As a result of using digital tools, 84% of studies reported a positive outcome in at least one of the following patient outcomes: knowledge, psychosocial well-being, behavioural/management changes, family communication, decision-making or level of engagement. Digital tools improved workflow and efficiency for providers and reduced the amount of time they needed to spend with patients. However, we identified a misalignment between study purpose and patient-reported outcomes measured and a lack of tools that encompass the entire genetic counselling and testing trajectory. Given increased demand for genetic services and the shift towards virtual care, this review provides evidence that digital tools can be used to efficiently deliver patient-centred care. Future research should prioritise development, evaluation and implementation of digital tools that can support the entire patient trajectory across a range of clinical settings. PROSPERO registration numberCRD42020202862.

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“…In addition to aligning with others’ findings that some are hesitant to use chatbots in healthcare due to accuracy concerns and a lack of empathy (Nadarzynski et al 2019 ), our work expands the evidence base (Lee et al 2022 ) to include details about patients’ and parents’ preferences for key functions and use cases. Since the acceptability of chatbot use may depend on the clinical indication for genetic testing or the acuity of the situation (e.g., during the newborn period), ongoing preference research in real-world clinical settings is warranted.…”

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“…17 Some digital technologies may improve workflow efficiencies by reducing administrative time spent preparing charts or other materials. 18 Similar to the broader digital health space, the growth prospect of digital tools for genetics underscores the growing importance of patient data privacy and security, which are key concerns for people in Canada. 19 Continuing to enhance data privacy infrastructures will be pertinent for addressing safety concerns, as genetic test results from medical records will need to connect seamlessly with patient-facing digital tools while still ensuring sensitive information, such as genetic risk factors, remains secure and confidential.…”

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