Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality

Abstract

Close relative (consanguineous) marriage is widely practised globally, and it increases the risk of genetic disorders. Mobile apps may increase awareness and education regarding the associated risks in a sensitive, engaging, and accessible manner. This systematic review of patient-facing genetic/genomic mobile apps explores content, function, and quality. We searched the NHS Apps Library and the UK Google Play and Apple App stores for patient-facing genomic/genetic smartphone apps. Descriptive information and information on content was extracted and summarized. Readability was examined using the Flesch–Kincaid metrics. Two raters assessed each app, using the Mobile App Rating Scale (MARS) and the IMS Institute for Healthcare Informatics functionality score. A total of 754 apps were identified, of which 22 met the eligibility criteria. All apps intended to inform/educate users, while 32% analyzed genetic data, and 18% helped to diagnose genetic conditions. Most (68%) were clearly about genetics, but only 14% were affiliated with a medical/health body or charity, and only 36% had a privacy strategy. Mean reading scores were 35 (of 100), with the average reading age being equivalent to US grade 12 (UK year 13). On average, apps had 3.3 of the 11 IMS functionality criteria. The mean MARS quality score was 3.2 ± 0.7. Half met the minimum acceptability score (3 of 5). None had been formally evaluated. It was evident that there are few high-quality genomic/genetic patient-facing apps available in the UK. This demonstrates a need for an accessible, culturally sensitive, evidence-based app to improve genetic literacy within patient populations and specific communities.

Conducting a systematic review and evaluation of commercially available mobile applications (apps) on a health-related topic: the TECH approach and a step-by-step methodological guide

“…To give an indication of how many apps is reasonable to review, we previously identified 236, 25 405, 24 555, 23 668, 19 754 20 and 3938 26 health apps from initial searches, before screening or deduplication took place. One of our reviews identified 7561 apps before screening 27 due to the topic (exercise), for which many apps exist.…”

“…Two of our reviews informed wider research studies; a review of apps used to support hand hygiene to provide the focus for a subsequent research evaluation, 19 and a review of patient-facing genetics apps to inform the design and development of a genetic counselling app. 20 Our other app reviews have provided evidence alongside a more traditional systematic review of the published research literature or as an independent review to guide clinicians/patients about mHealth apps they could use to support patient care.…”

Conducting a systematic review and evaluation of commercially available mobile applications (apps) on a health-related topic: the TECH approach and a step-by-step methodological guide

“…In this paper, we use examples from our previous work as case studies, to highlight and discuss the methodological issues raised when conducting a review of commercially available health apps (see Table 1). Two of our reviews informed wider research studies; a review of apps used to support hand hygiene to provide the focus for a subsequent research evaluation [19], and a review of patient-facing genetics apps to inform the design and development of a genetic counselling app [20]. Our other app reviews have provided evidence alongside a more traditional systematic review of the published research literature or as an independent review to guide clinicians/patients about mHealth apps they could use to support patient care.…”

“…Gasteiger & Vercell et al, 2022 [20] To identify patient-facing smartphone apps related to genetic or genomic conditions available in the UK and explore their purpose, functions, and quality.…”

“…In our previous work, we identi ed 236 [21], 405 [22], 555 [24], 668 [19], 754 [20] and 3938 [23] health apps from initial searches, before screening or deduplication took place. One of our reviews identi ed 7561 apps before screening [25] due to the topic (exercise), for which many apps exist.…”