An evaluation of an information linker service for families with a child diagnosed with genetic epilepsy.

GenE Compass is a personalised information service for parents/caregivers (herein referred to as caregivers). Caregivers can submit questions on their child’s DEE to our ‘information linker’ via an online form or via phone call (the linker will verbally obtain information for the form on the call and submit on the caregivers’ behalf). They can do this either independently or in partnership with a healthcare professional. Caregivers will be able to ask as many questions as they link within their 3-months access to GenE Compass. Questions can be about their child’s specific diagnosis such as about expected co-morbidities, natural history information, support resources, what current research is being conducted on that condition, how gene therapies or precision medicine works. In regards to clinical trials, we will not provide any recommendations of enrolment. Rather, we will provide links to support caregivers to access this information themselves. We will only provide specific treatment information for a genetic diagnosis if it is within international consensus guidelines. We have consulted clinical, medicolegal and clinical ethics experts and have designed GenE Compass as an information resource which compliments but does not replace clinical care. Therefore we have made it clear that we cannot offer specific management advice (e.g. advice on choice of one therapy over another) for individual patient or families, as that is under the jurisdiction of the individual managing physicians. We have clearly managed expectations for the scope of GenE Compass in the recruitment information and have provided a pathway for highlighting what requests are ‘out of scope’ for the pilot The GenE Compass information linker, is a professional person with expertise in collating medical information and explaining this to families, who will be responsible for: 1. triaging queries to Level A or B 2. researching the peer-reviewed literature to answer the caregivers’ questions 3. preparing an initial report and discussing their findings at the weekly GenE Compass multi-disciplinary team meeting (including clinical geneticists, genetic counsellors, a neurologist, and clinical nurse consultant). 4. finalising the report and sending it back to the caregiver and the caregivers’ nominated healthcare professionals. Questions are triaged into Level A or B queries. Level A queries are defined as “Out of scope of GenE Compass, can be best responded to by a known alternative service/organisation, or simple response required OR consists of a clinical question which will need to be addressed by one of the child’s clinicians as greater context is required.” Should a query be considered Level A by the information linker and senior multidisciplinary team members (i.e. a epileptologist, and two clinical geneticists), the linker will email the caregiver directly providing information about why their question is outside of the scope of GenE Compass and recommendations for caregivers next step. For example, if a caregiver submits a question about increasing medication dose due to an increase in seizure frequency, the information linker will clarify that GenE Compass is not a medical service and will direct the caregiver to contact their child’s neurologist and/or paediatrician. Level B queries are defined as “Questions related to information about a DEE or comorbidities, but not direct patient care” (i.e. within scope of GenE Compass). In these cases, the linker will conduct their rapid literature review, prepare an initial report, consult with the expert multidisciplinary team and finalise the report. The report will be written at a maximum Grade 8 readability (Flesch-Kincaid readability score; with the primary readership being the caregivers). An important part of GenE Compass will be the assessment of the quality of web-resources, as we anticipate that some of the information that will be sought will not be in peer-reviewed articles. Building on our experience of running pennsw.org.au we will also pilot a star rating of information. For example, a '***' rating will indicate that information provided is supported by at least 1 article in a peer-reviewed journal for that particular cohort. We anticipate that we will return a report to the caregiver within 10 business days, however we will be exploring the feasibility of the GenE Compass in this evaluation. We anticipate it will take 5-10 business days based on previous research done by Swinglehurst et al (2001) and our capacity to run weekly GenE Compass multi-disciplinary team meeting. We anticipate that the report will be delivered in a standard format. However, we will be examining the queries that are sent to our service and iterating the report format and content so that it is most valuable to each family, yet sustainable long-term. If necessary, the report will be shared with the caregivers with the support of Aboriginal liaison workers and/or Interpreter services. At the end of our evaluation we will examine the quality of the information that shared within our reports. This will provide a list gaps in current evidence for future researchers and clinicians to explore. Prior to sending out to a caregiver, all reports will be reviewed by at least two clinicians on our expert multidisciplinary team. For example, a query about genetic testing may require a clinical geneticist and genetic counsellor to approve the report, vs. a question about seizures and impact on mental health may require a epileptologist and psychiatrist to approve the report. This will ensure that while the information linker is responsible for the reports, the senior clinicians are accountable and hold ultimate ownership of information provided. The information the linker obtains for commonly asked questions will also be uploaded onto www.pennsw.org.au. This means that the information gained through this pilot will also be available for caregivers globally. This generated information will also be advertised via our CoGENeS social media pages, GenE Compass study newsletter, CoGENeS family days, our collaborators, Genetic Epilepsy Team Australia (GETA) and Epilepsy Smart program to maximise knowledge dissemination. Thus, the pilot will provide a ‘living information resource’, tailored to the most frequently asked questions of parents of children with genetic DEE, but available free of access to families and clinicians internationally.