Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol

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  1. http://orcid.org/0000-0001-9395-7896Eden G Robertson1,
  2. Lauren Kelada1,ii,
  3. Stephanie All-time3,4,
  4. I Goranitisfive,
  5. Natalie Grainger1,
  6. Fleur Le Marne1,6,
  7. Kristine Pierce1,seven,
  8. Suzanne M Nevin1,
  9. Rebecca Macintosh1,viii,
  10. Erin Beavis6,
  11. Rani Sachdev1,8,
  12. Annie Bye1,6,
  13. Elizabeth E Palmer1,8
  1. 1 Discipline of Paediatrics and Kid Health, Schoolhouse of Clinical Medicine, UNSW Medicine & Health, UNSW, Randwick, New South Wales, Commonwealth of australia
  2. 2 Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Infirmary Randwick, Randwick, New S Wales, Australia
  3. 3 Centre for Healthcare Resilience and Implementation Scientific discipline, Australian Institute of Wellness Innovation, Sydney, New S Wales, Australia
  4. 4 Australian Genomics Health Alliance, Murdoch Children's Enquiry Institute, Parkville, Victoria, Commonwealth of australia
  5. five Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia
  6. vi Department of Neurology, Sydney Children'southward Hospitals Network Randwick, Randwick, New South Wales, Australia
  7. vii Epilepsy Foundation, Melbourne, Victoria, Australia
  8. eight Centre for Clinical Genetics, Sydney Children's Hospitals Network Randwick, Randwick, New South Wales, Australia
  1. Correspondence to Dr Eden One thousand Robertson; eden.robertson{at}unsw.edu.au

Abstract

Introduction Developmental and epileptic encephalopathies (DEEs) are rare epilepsy weather that collectively impact 1 in 2000 children. They are highly genetically heterogeneous, resulting in significant barriers to accurate and acceptable data for caregivers. This can lead to increased distress and dissatisfaction with the healthcare arrangement. To address this gap, we developed 'GenE Compass' to provide caregivers with the highest-quality possible, understandable and relevant information in response to specific questions about their child'southward DEE. Using a mixed-method design, we volition at present pilot Factor Compass to evaluate the acceptability to caregivers and clinicians, feasibility and impact to caregivers.

Methods and analysis Nosotros will recruit 88 caregivers (estimated terminal sample of 50 at follow-upwardly) who have a kid under 18 years of age with a suspected or confirmed DEE diagnosis. Following consent and a baseline questionnaire (questionnaire 1 (Q1)), participants volition exist able to submit questions to Cistron Compass over a 3-month menstruation. Afterward iii months, participants will consummate a follow-up questionnaire (Q2) and an optional phone interview to answer the enquiry questions. Primary outcomes are acceptability of GenE Compass and feasibility of delivering the intervention (eg, cost of the intervention, number of questions submitted and time taken to respond to questions). Secondary outcomes include the affect of Factor Compass on caregivers' quality of life, information searching behaviours, perceptions of their child's illness and activation.

Ethics and discussion The report protocol (V.2, dated 16 September 2021) has been approved past the Sydney Children'due south Hospitals Network Man Inquiry Ideals Committee (ETH11277). The results will be disseminated in peer-reviewed journals and at scientific conferences. A lay summary volition exist disseminated to all participants.

Trial registration number ACTRN12621001544864.

  • EDUCATION & Grooming (run across Medical Pedagogy & Grooming)
  • GENETICS
  • Epilepsy
  • Neurogenetics
  • Paediatric neurology
  • PAEDIATRICS

Data availability statement

Data are available upon reasonable asking. Private participant data volition not be made bachelor given that participants may be identifiable given the rarity of their child's condition.

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  • EDUCATION & Grooming (see Medical Education & Training)
  • GENETICS
  • Epilepsy
  • Neurogenetics
  • Paediatric neurology
  • PAEDIATRICS

STRENGTHS AND LIMITATIONS OF THIS Written report

  • A strength of our study pattern is the mixed-method approach, with interview data used to complement our quantitative survey findings.

  • A force of our study is the substantial consumer involvement in the protocol design, participant documents and questionnaires.

  • Our study is express due to the exclusion of the potentially most vulnerable groups—culturally and linguistically diverse families, and those who are experiencing astute distress.

  • We have allowed for 3 months' access to Gene Compass; withal, this may not be enough time for caregivers to submit their questions and/or receive benefit from the reports nosotros accept prepared.

Introduction

Rare affliction is a major public wellness claiming. There are over 10 000 rare conditions that impact an estimated 8% of the population,1 many of which have their onset in childhood and a genetic cause. In December 2021, the United Nations (UN) adopted the start ever UN 'Resolution on Addressing the Challenges of Persons Living with a Rare Disease and Their Families'ii equally function of a global motility to improve care for people living with rare diseases. The Australian government also released a National Strategic Action Plan for Rare Diseases in 2020,3 highlighting the importance of improved rare disease awareness, support, management and research.

One rare affliction cohort requiring further back up is children afflicted with a developmental and epileptic encephalopathy (DEE). DEEs are characterised past childhood-onset drug-resistant seizures and developmental slowing or regression.4 Children with DEE have a high mortality and a complex range of comorbidities such every bit autism spectrum disorder, motor deficits and sleep disorders.4 As with many rare diseases, these complex intendance issues lead to recurrent hospitalisations, sudden risk of decease and high burden of care. Although DEEs are collectively mutual with an incidence of 1 in 2000,v they are individually ultra-rare,half-dozen with each private DEE affecting an estimated less than i per 2 000 000 people. This is because DEEs are genetically heterogeneous with over 400 monogenic causes.7 Many genetic causes accept but recently been identified due to meaning advancements in genomic sequencing.7 8 Even when a genetic cause is identified, this can have a vast range of comorbidities and phenotypes.

These factors mean that in that location is very little information regarding natural history, prognosis and comorbidities, and limited defended patient advocacy or support services for DEE,9 a mutual theme beyond rare illness intendance.3 eight x Of the limited information about DEE, the frequently generic nature of this information often limits relevance to the unique situation of each child.11

Understanding their kid's condition is disquisitional for caregivers. Unmet information needs and express psychosocial resource can contribute to greater levels of stress and poorer psychosocial outcomes.11 12 This is indeed seen in caregivers of a kid with DEE who report college levels of feet and depression than population norms,13–eighteen and in comparison to caregivers of other chronic childhood-onset weather condition such as cerebral palsy and Rett syndrome.xix Caregivers have identified that barriers to information impede access to appropriate and timely healthcare, education and community services.11 They are desperate for information only often find it is defective, given the rarity of their child's diagnosis and the uniqueness of their child's symptoms and family's situation.11 In the promise of improved outcomes, many caregivers conduct their own research, which can be lamentable, time-consuming and effect in little benefit. Bear witness suggests that only ~43% of English-speaking Australians accept 'adequate' health literacy.xx Therefore, many caregivers, if they retrieve information, struggle to decipher whether it is of high-quality or data of relevance for their child. This combination of the 'expert-parent', societal information-seeking behaviour, high social media connectivity of contemporary caregivers and a rapidly evolving genomics field creates the perfect storm for caregivers who are trying to empathise their kid's circuitous diagnosis.11

Time-poor clinicians may too find it difficult to remain up to date regarding gene-specific knowledge, given the rapidity of factor discovery and publication across both medical and lay resources.1 This makes it hard to provide patients and families with the highest-quality data. Communication difficulties can also arise from having a large multidisciplinary squad (MDT) that cares for the child, common in rare disease.21 Limited availability of clinicians with expertise in the specific DEE as well results in many families' dissatisfaction with the health system.

In line with the 2020 Australian Government'south National Strategic Activity Plan for Rare Disease3 and guided by feedback from families (through both preparatory research11 12 22 and our consumer reference grouping), we developed Genetic Epilepsy (Factor) Compass. GenE Compass aims to provide caregivers with greater admission to relevant DEE information, promote family-centred care, ameliorate partnerships between researchers and clinicians, and systematically build noesis and expertise. The previously mentioned research suggests that providing caregivers with understandable, relevant and gene-specific information may help them to better cope with their child's status.14

GenE Compass

We volition invite caregivers to submit questions almost their kid'due south condition, expected comorbidities, natural history information, support resources, electric current status-specific enquiry, or how factor therapies or precision medicine works. We will answer to these questions with individually prepared bear witness-based reports. These reports will provide the highest-quality available information that is relevant to their kid'southward diagnosis and be presented in an understandable format.

Objectives

Our mixed-method prepilot–postpilot aims to determine whether GenE Compass is acceptable to caregivers and neurologists and is feasible to deliver. We will also explore the potential touch on of GenE Compass on caregivers' quality of life, information searching behaviours, perceptions of their child's affliction and activation (ie, willingness and capacity to manage their child'southward health and care). Encounter table ane for our logic model.

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Table i

GenE Compass logic model.

Methods and analysis

Report blueprint

Nosotros developed our protocol to meet the standards outlined in the Standard Protocol Items: Recommendations for Interventional Trials checklist.23 We volition use a single group, predesign–postdesign to achieve our objectives.

Patient and public involvement

Our preparatory research with parents who have a child with a genetic epilepsy led to the innovative pattern of GenE Compass.11 12 22 Our protocol has been designed past an MDT which involves a neurologist, a psychologist, a clinical nurse consultant, a genetic counsellor, two clinical geneticists, two behavioural scientists and two implementation scientists. We developed our protocol with these health professionals via online working group meetings over the form of 12 months. We also received input from several other neurologists, paediatricians, clinical nurse consultants, a clinical ethics professional person, a medicolegal professional, patient engagement professionals and infirmary executives that we identified through our professional networks. We collected this input via email and feedback during two online workshops. 4 parent consumers contributed toward the development of our questionnaires, and one consumer was involved in the design of Gene Compass and evaluation methods. We nerveless consumer input via electronic mail and online meetings. We have also involved top bodies such as Genetic Epilepsy Squad Australia and the Australian Epilepsy Foundation in the design of our approach to ensure our service is addressing the needs of consumers.

Setting

Gene Compass will be delivered virtually. Nosotros will invite caregivers to submit questions online via our purpose-designed form (meet online supplemental file A) or via phone to our information linker, who will complete the online form on behalf of the caregiver. All reports will be delivered via e-mail, and data will be nerveless online. Should a caregiver not have email or computer access, they volition exist able to complete all aspects of the study via telephone and/or postal mail.

Supplemental material

Participants

Caregivers are eligible to participate in GenE Compass if they (1) accept a child (<eighteen years of age at time of study invitation) with a clinically suspected or confirmed diagnosis of DEE; and (2) are new or existing patients at the Sydney Children'southward Hospitals Network (SCHN). Caregivers whose child transitions to the adult wellness organisation during the report volition remain eligible. Either ane caregiver or both can participate. We will only include caregivers who tin can speak English. While we acknowledge that culturally and linguistically diverse populations may be the well-nigh vulnerable families in this context, further community appointment is needed to ensure the appropriateness of our intervention and study design. Caregivers accounted by one of their clinicians as having pregnant acute mental wellness illness, such as currently experiencing suicidal ideation or symptoms of psychosis, will also be ineligible to participate.

Based on a current clinical audit, nosotros anticipate that <x% of the families eligible for our study are probable to get bereaved over the course of data collection. However, it is non possible to predict the life expectancy of children with DEE, as babyhood mortality varies significantly between subtypes of DEE. We will confirm appropriateness to send the 3-month follow-upwards questionnaire (Q2) to participants with their treating team. We volition but include bereaved caregivers in our evaluation if they had admission to GenE Compass for at least 2 months. In following the recommended length of fourth dimension in the bereavement literature, we will not contact bereaved caregivers for 3 months following the decease of their kid.24–26 At that timepoint, nosotros will call bereaved caregivers to encounter if they would similar to complete a final questionnaire (Q2B) about GenE Compass.

Recruitment

Nosotros will obtain a list of eligible families and contact details through study investigators and patient databases including GeneSTART and NeuroCONNECT. GeneSTART is a consented disease agnostic patient database for rare diseases across SCHN. NeuroCONNECT is a registry of patients across the SCHN for neurological disorders.

We will invite eligible families by mailing/emailing an invitation letter and a study postcard with a link to Research Electronic Information Capture (REDCap). This link will include the information sheet and video, e-consent form and Q1, and written report contact data. Caregivers tin request a paper version of any study documents.

We will recruit families over 4 months. Families will exist randomised to one of four recruitment drives via an online randomiser that provides a computer-generated sequence. This stepped approach will ensure nosotros have capacity to conduct follow-up calls, and the information linker tin can establish a sustainable workflow.

We will follow upwardly caregivers who do non consent to Gene Compass within two weeks from the invitation package beingness mailed out. We will brand a maximum of three successful contacts (eg, telephone telephone call or electronic mail, ie, where contact is directly made with the caregiver). We will also brand a maximum of ane successful contact (eg, phone telephone call, text message or email) for bereaved caregivers who express an interest in completing Q2B just have not yet washed so. Participants volition be informed nigh the voluntary nature of the study and the choice to opt out at whatsoever point during whatsoever follow-upwards calls.

Factor Compass

Intervention design

Effigy one outlines the key stages of our GenE Compass pilot intervention, aslope the evaluation data drove points. The key stages of Factor Compass intervention include the following:

  1. Caregiver submits a question. Following consent and completion of Q1, caregivers are invited to submit questions via an online form (REDCap) or a phone telephone call. Questions can be submitted independently or in partnership with a healthcare professional. This was to empower caregivers and to minimise burden on healthcare professionals.

  2. Gene Compass triages question. Once we receive a question, our information linker and adept MDT (consisting of a paediatric epileptologist, clinical geneticists, a psychiatrist, a clinical nurse consultant, an epilepsy educator and a genetic counsellor) will triage questions as existence (i) within scope or (2) outside of the telescopic of Cistron Compass. GenE Compass has been designed to complement, not replace clinical intendance. Thus, questions regarding specific direction advice (eg, advice on selection of one therapy over another) for an individual patient (or families) are considered outside of telescopic. Caregivers who submit a question regarding specific management will be prompted to talk over further with their child's clinicians. Submitted questions that tin exist best responded to by a reputable alternative service/organisation (eg, local back up organisations which provide navigational support for navigating public funding for allied health and disability support) are likewise considered out of scope. Caregivers will be redirected to the alternative service/organisation as appropriate.

  3. Gene Compass prepares report for questions that are within scope. Our information linker will conduct a rapid literature review via relevant search engines (eg, PubMed) and review of online resource (eg, orpha.net). The linker volition ready an initial report and consult with our MDT, and if necessary, external specialists.

  4. Sharing of reports. Each study volition exist approved by at least two clinicians from our MDT prior to being emailed to participants (via REDCap). Should participants not take an e-mail, nosotros volition ostend the all-time option for them to receive the reports (eg, via postal mail service). The report will likewise exist sent to the main neurologist, paediatrician and primary physician (general practitioner) that the caregiver is required to nominate during Q1 (irrespective of whether their question is submitted in partnership with a healthcare professional person).

The decision to allow for a iii-month access period to GenE Compass was driven by funding limitations and an adequate period to determine how oftentimes parents wish to submit questions (eg, merely at consent or at numerous times over a period).

We anticipate that some of the information that will be used for our reports will non be from peer-reviewed articles (eg, web resources). To inform caregivers of quality of evidence used for their study, we volition provide a simple a rating of sources used. Our purpose-designed rating system will group sources into three broad categories, depending on scientific quality. Scientific quality is attributed based on the blazon of peer-reviewed reference (eg, meta-analysis, systematic review and international guideline), the quartile ranking of the periodical it was published in and the type of website (eg, government-run or hospital-endorsed).

Evaluation data collection

Participants will consummate Q1 at consent, and Q2 3 months later (see figure 1 for evaluation overview, table 2 for overview of measures and online supplemental file B for Q1 and Q2). We will as well invite participants to share report-specific feedback at the time of receiving each report. To reduce burden on caregivers, we will inform caregivers that report-specific feedback is optional. We gauge that both Q1 and Q2 volition take 20–thirty min to complete, and report-specific feedback will have 2 min. All participants volition automatically be emailed a link to Q2 3 months after completing Q1, should they be identified as appropriate to contact at that point in fourth dimension.

Supplemental material

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Table ii

Overview of measures collected from caregiver participants

We will also invite caregivers to participate in an optional 30 min interview in Q2 so that nosotros tin delve farther into their experiences and perceptions of GenE Compass. These interviews will allow us to identify barriers and enablers to using Factor Compass to back up futurity service evolution. Interviews past a trained psychosocial interviewer will be conducted over the phone or in person, depending on caregivers' preference, and will exist sound-recorded then deidentified for analysis purposes.

Neurologists nominated by families in Q1 will be invited to provide feedback about GenE Compass via an online questionnaire. Nosotros will email a questionnaire link to neurologists who received at least one study over the study period. We volition send a maximum of three email reminders, ane week betwixt each contact, to clinicians who do non respond. Run into online supplemental file C for the total questionnaire.

Supplemental material

We volition capture primal demographics of participants who practise not participate in our report (eg, historic period of child and time since diagnosis). We will also document recruitment and retention rates, number and type of questions submitted (and date of submission from consenting), format of question submission, time spent preparing each report (eg, staff time writing reports and time spent in meetings to triage reports), time taken to return the report, the number of questions we receive that are out of scope, and the number of caregivers who report more distress after reading their report and crave follow-upwards.

To evaluate the cost and outcomes of GenE Compass, caregivers will report the number of hours per month searching for information related to their kid's diagnosis, treatment, symptoms or care. We will also collect the number of calls to the respective hospitals' epilepsy consultant nurse specialists with questions prior to GenE Compass and afterwards.

Measures

We developed our questionnaires in collaboration with caregivers with a child with a DEE and a multidisciplinary steering committee involving child wellness researchers, implementation scientists, health economists and clinicians. See tabular array 2 for an overview of measures for caregivers.

Semistructured interviews volition involve six purpose-designed questions that allow us to explore the questionnaire findings: (one) reason for signing up to GenE Compass, (2) experiences of submitting questions, (3) thoughts on reports, (4) the process of sending reports to healthcare professionals, (five) impact of GenE Compass and (six) recommendations to meliorate GenE Compass.

Analyses

We will conduct all statistical analyses using SPSS V.24.0.29 or R. Nosotros volition classify results as statistically significant when the p value is <0.05 (two-tailed). We volition utilize descriptive statistics to report sociodemographics, child medical characteristics, report-specific feedback, acceptability and feasibility.

Nosotros will utilize regression analyses to analyse any change over time in a participant's quality of life (via the Adult Social Intendance Outcomes Toolkit–Four-Level Self-Completion Questionnaire for Carers (ASCOT Carer–SCT4)), illness perceptions (via the Brief Illness Perceptions Questionnaire (BRIEF IPQ)) and activation (via the Patient Activation Measure out (PAM)–Short Course). We will include health literacy and the number of questions submitted to GenE Compass every bit predictors to this model. We anticipate these variables to be correlated merely nonetheless have independent effects. Nevertheless, if they are highly correlated (0.ix or greater), we will include only health literacy as the predictor.

We are collecting information primarily through REDCap, which volition limit missing data in Q1. If necessary, we volition conduct Trivial's Missing Completely at Random (MCAR) examination to determine whether data are missing completely, and apply multiple imputation using chained equations for missing data on the ASCOT Carer–SCT4, BRIEF IPQ or PAM–Short Form.

We volition utilize NVivo V.12 (QSR International) to conduct a qualitative analysis of the questions submitted to GenE Compass. To increase the depth of findings, we will use an explanatory sequential mixed-method design by using the qualitative data (in interviews) to elaborate on the quantitative (acceptability and feasibility) findings.27 We will code transcriptions line past line using an inductive coding approach.28

Sample size

The target sample size for this projection is 72 participants at baseline, which volition allow for an estimated final sample size of at least 50 participants. This assumes a response rate of 20% and an attrition rate of 30%. There is little research in this population to determine our attrition rate. As such, we have based it on feel of the researchers and clinical expertise.

With no research bachelor that specifies minimally important differences for the ASCOT Carer-SCT4, Brief IPQ or the PAM–Short Course, we based our sample size calculation off the research conducted with the Short-Form Six-Dimension (SF-6D) andEuropean Quality of Life-V Dimension (EQ-5D) preference-based measures of health.29 Nosotros assumed a correlation of 0.6 between repeated ASCOT Carer-SCT4 measures and an SD of 0.3. For a terminal sample size of due north=50, there would be greater than fourscore% power to discover a alter of 0.ii.

Ethics and dissemination

Data management

All questionnaire information, questions and feedback will be nerveless through the secure UNSW Sydney REDCap server. REDCap is a widely used electronic information capture platform designed to replace paper-based questionnaires and spreadsheet-based data capture systems. Only primal research staff volition have admission to the GenE Compass database. Should a participant asking to consummate hard-copy questionnaires and/or feedback, hard-copy data will be entered into REDCap by the research squad. All hard-copy documents will exist held securely at UNSW Sydney in a locked filing cabinet accessible past the study squad. Electronic databases and information will be stored on the secure UNSW OneDrive accounts which are simply attainable by the research team. E-consent forms will be securely stored through the REDCap 'Auto-Archiver+e-Consent Framework' File Repository.

Any identifiable data that is nerveless about participants in relation to this study will remain confidential and volition be disclosed just with participants' permission or except every bit required by law. Data for each participant volition exist labelled with a unique identification number. However, data will be reidentifiable if necessary. All information (difficult copies and electronic copies) will be confidentially disposed of 15 years from publication. Paper-based documents will be shredded, and all electronic files will be deleted at the specified fourth dimension.

Ethics

Our report has been approved by the SCHN Man Inquiry Ethics Committee (2021/ETH11277). We will see approval for whatsoever important protocol modifications to this committee. This study is listed on the Australian New Zealand Clinical Trials Registry and has undergone rigorous multidisciplinary peer review. We volition submit any amendments to our protocol as necessary. Study progress will be submitted to the SCHN HREC as required. As per the National Statement on Ethical Conduct in Human Research,thirty participants volition be informed of the voluntary nature of the study and will exist able to revoke their consent to participation at any time without needing to provide a reason.

Safety monitoring

Nosotros will not require a data monitoring commission as the proposed study poses minimal risk to participants. Yet, the population we are working with is vulnerable, and there is potential that the data provided by GenE Compass may cause some distress. Our research team will be automatically notified via a REDCap alert should a participant (one) rate increased distress later on reading the report and as well (ii) indicate that they would like to be contacted by the Factor Compass team. Nosotros volition contact these participants to further assess and instigate advisable support services. If we determine the participant to be in imminent risk (eg, suicidal intent), nosotros volition contact 000. Whatever agin events that occur after informed consent is signed, such as increased distress following a study being read, volition be recorded in an agin events log. If distress is identified during an interview, the interview will end, and we volition provide appropriate back up services.

Nosotros will include a medicolegal disclaimer in all reports, canonical by the SCHN medicolegal team, that specifies (1) the written report does not act as a substitute for clinical examination and is not intended to establish medical communication, (2) consultation with relevant healthcare professionals for any clinical questions, (iii) attention the local emergency department in an emergency and (4) our recommendation to discuss this report with relevant healthcare professionals. In all participant contacts, we will also provide details for support networks (eg, Lifeline) and advise them to contact 000 if they are in firsthand danger.

Given that our trial is of a short duration with known minimal risks, we will not crave a data monitoring committee. We anticipate one interim analysis and one final analysis. The trial will non be stopped in case of futility, unless the project team has serious concerns almost participant safety.

Report elapsing

We volition embark study recruitment in Jan 2022. We will close study recruitment when at least 50 participants have completed both Q1 and Q2, or when funding ceases at the end of 2022 (whichever occurs offset).

Dissemination of enquiry findings

We will publish the results of this study in a peer-reviewed periodical (with authorship defined past the International Committee of Medical Journal Editors [ICMJE] criteria) and present our findings at relevant scientific conferences and professional meetings. Nosotros volition send a lay summary to all participants at study shut, and share findings with relevant advocacy groups, clinicians and health services. To ensure confidentiality of participants, given the nature of our sample, the sharing of deidentified data will be considered on request.

Discussion

GenE Compass is an innovative, new model of information provision for families of children with a DEE, a circuitous and severe group of rare genetic conditions. To our cognition, information technology will exist the earth's first prove-based intervention to systematically address the information needs of caregivers with a kid who has a suspected or confirmed diagnosis of DEE. In that location are few interventions that use a similar tailored information service approach. Of those that be, they are most commonly to support primary care,31–35 merely none to our knowledge in a rare disease cohort. We partnered with families to codesign our approach and in direct response to their expressed needs and preferences.11 12 GenE Compass has the potential to improve caregivers' quality of life and well-existence, improve caregivers' self-efficacy and confidence in managing their child'southward condition, and enhance skills and competences of healthcare professionals—all key targets of rare disease plans and policies, such as the Australian National Strategic Action Program for Rare Affliction.3

With the patient and caregiver at the core of Gene Compass, information technology is integral to develop an intervention that tin exist embedded within the healthcare system. As such, we have engaged front-line care providers (eg, paediatricians and neurologists), wellness services (eg, infirmary executives and patient date staff) and patient advocacy groups. What has resulted is a high-quality intervention blueprint that has a high likelihood of integration into statewide and national wellness services.

To ensure sustainability of Cistron Compass, we will use submitted questions and prepared reports to guide the evolution of resources for families and clinicians. These resource will be uploaded onto the PENNSW website, which will be freely accessible to families and clinicians globally.36 This pilot evaluation will upshot in a 'living information resource', tailored to the nigh frequently asked questions of caregivers of children with genetic DEE, simply available free to access to families and clinicians internationally.

Following our pilot, we will revise GenE Compass as appropriate earlier evaluating the efficacy and implementation of the intervention at a national level. Nosotros will also accommodate our innovative model of information provision to a broader range of rare neurogenetic diseases, the incidence of which has increased exponentially with advances in genomic technology. GenE Compass therefore has the potential to be relevant to the estimated ii million people living with rare disease beyond Australia.three

A strength of Gene Compass and our evaluation is in its innovation, but this study is not without limitations. Nosotros will investigate feasibility of GenE Compass, but information technology is likely a resource-intensive intervention requiring substantial funding. This introduces challenges to scalability and sustainability. Nosotros volition explore cost of GenE Compass (eg, fourth dimension taken to ready reports) and acceptability to better understand what aspects of GenE Compass are almost impactful to families. Nosotros will take these learnings to determine which aspects of GenE Compass may be possible to calibration up. A 2d limitation is the exclusion of the potentially most vulnerable groups—culturally and linguistically various families and those who are experiencing acute distress. Past limiting recruitment to parents who speak English and who are not experiencing astute psychological distress, there is a potential that nosotros are excluding parents who may be about vulnerable and in need of this service. A further limitation is that the success of this evaluation will largely depend on the recruitment and submission of questions to GenE Compass—it is unclear on the 'dose' that is required to take an impact on participants, or whether three months of access provides enough time to reap the potential benefits. Lastly, we recruited from only two hospitals in Sydney, Commonwealth of australia, although this is appropriate for the pilot nature of this study.

Our learnings from this report will provide insight into how we tin all-time provide families with answers to their questions, including the cost–benefit to such an innovative model of care. In addition, our learnings will inform what data families want to know, which tin adapted to address the information needs across a broader range of rare diseases.

Data availability statement

Information are available upon reasonable asking. Individual participant data will not be made available given that participants may be identifiable given the rarity of their kid's condition.

Ethics statements

Patient consent for publication

Acknowledgments

We acknowledge our caregiver consumers and many wellness professionals who provided their valuable input throughout our preparatory studies and protocol development. Thank you as well to Sarah Casauria and Vana Madelli from Australian Genomics for their assistance in establishing our Research Electronic Data Capture database used for the project data drove.

Supplementary materials