ABSTRACT
BACKGROUND: Big data research in the field of health sciences is hindered by a lack of agreement on how to identify and define different conditions and their medications. This means that researchers and health professionals often have different phenotype definitions for the same condition. This lack of agreement makes it difficult to compare different study findings and hinders the ability to conduct repeatable and reusable research. OBJECTIVE: This study aims to examine the requirements of various users, such as researchers, clinicians, machine learning experts, and managers, in the development of a data portal for phenotypes (a concept library). METHODS: This was a qualitative study using interviews and focus group discussion. One-to-one interviews were conducted with researchers, clinicians, machine learning experts, and senior research managers in health data science (N=6) to explore their specific needs in the development of a concept library. In addition, a focus group discussion with researchers (N=14) working with the Secured Anonymized Information Linkage databank, a national eHealth data linkage infrastructure, was held to perform a SWOT (strengths, weaknesses, opportunities, and threats) analysis for the phenotyping system and the proposed concept library. The interviews and focus group discussion were transcribed verbatim, and 2 thematic analyses were performed. RESULTS: Most of the participants thought that the prototype concept library would be a very helpful resource for conducting repeatable research, but they specified that many requirements are needed before its development. Although all the participants stated that they were aware of some existing concept libraries, most of them expressed negative perceptions about them. The participants mentioned several facilitators that would stimulate them to share their work and reuse the work of others, and they pointed out several barriers that could inhibit them from sharing their work and reusing the work of others. The participants suggested some developments that they would like to see to improve reproducible research output using routine data. CONCLUSIONS: The study indicated that most interviewees valued a concept library for phenotypes. However, only half of the participants felt that they would contribute by providing definitions for the concept library, and they reported many barriers regarding sharing their work on a publicly accessible platform. Analysis of interviews and the focus group discussion revealed that different stakeholders have different requirements, facilitators, barriers, and concerns about a prototype concept library.
ABSTRACT
There is a significant delay between seeking help and a confirmed diagnosis of Autism Spectrum Disorder (ASD). This delay can lead to poor outcomes for both the families and individuals. Telehealth potentially offers a way of improving the diagnostic pathway for ASD. We conducted a scoping review examining which telehealth approaches are used in the diagnosis and assessment of ASD in children and adults, whether they are feasible and acceptable, and how they compare with face-to-face diagnosis and assessment methods. A search for all peer-reviewed articles, combining the terms of autism and telehealth was conducted from 2000 to 2019. A total of 10 studies were identified for inclusion in the review. This review of the literature found there to be two methods of using telehealth: (a) Real-Time method e.g. video conferencing that enables teams in different areas to consult with the families and to assess the child/adult in real time and (b) A Store-and-Forward method as Naturalistic Observation Diagnostic Assessment (NODA) system to upload videos of child's behaviors to a webportal that enables the clinicians to make an assessment remotely. The findings were positive, finding there to be high agreement in terms of the diagnosis between remote methods and face to face methods and with high levels of satisfaction among the families and clinicians. This field is in the very early stages and so only studies with small sample size using surveys and interviews were identified but the findings suggest that there is potential for telehealth methods to improve access to assessment and diagnosis of ASD used in conjunction with existing methods, especially for those with clear autism traits and adults with ASD. Larger randomised controlled trials of this technology are warranted.
