Using social media listening to understand barriers to genomic medicine for those living with Ehlers–Danlos syndromes and hypermobility spectrum disorders

Abstract Introduction Technological improvements alone have not led to the integration of genomic medicine across a broad range of diseases and populations. For genomic medicine to be successfully implemented across specialties and conditions, the challenges patients and caregivers experience need to be identified using a multi‐faceted understanding of the context in which these obstacles occur and how they are experienced. Individuals affected by rare conditions, like Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD), express numerous challenges with accessing genomic medicine. Many patients living with rare diseases seek information and find comfort in online health communities. Methods Social media conversations facilitated through online health communities are windows into patients' and caregivers' authentic experiences. To date, no other study has examined genomic medicine barriers by analysing the content of social media posts, yet the novel methodological approach of social media listening permits the analysis of virtual, organic conversations about lived experiences. Results/Conclusions Using a modified social–ecological model, this study found that social–structural and interpersonal barriers most frequently impede access to genomic medicine for patients and caregivers living with EDS and HSD. Patient or Public Contribution Data were retrieved through social media conversations facilitated through publicly accessible health communities through Inspire, an online health community. Social media listening permits the analysis of virtual, organic conversations about lived experiences.


| Access to health care
Policy shifts of the last decade have attempted to broaden access to quality health care and improve health outcomes with mixed results. 1,2 Under the Affordable Care Act insurance coverage has increased; however, in 2020, 28 million citizens (8.6% of the population) still lacked health insurance coverage at some point during the year. 3 Unfortunately, any gap in coverage can negatively affect patient health outcomes. Even among insured individuals, barriers to accessing health care services remain, namely unreliable transportation, physician shortages and long wait times. 4 Since the Institute of Medicine 5 defined access to health care as 'the timely use of personal health services to achieve the best health outcomes', the definition has been explored and expanded, with both access to and utilisation of health care services as key dimensions. 6 Patient-centred care conceptualised access as a complex layering from personal through the structural dimensions, each with barriers and enabling factors on the pathway to quality care. 7

| Genomic medicine
Patients are eager to access the promise of genomic medicine. 8 Genomic medicine, the use of patients' genetic information to inform clinical care (i.e., testing, treatment and counselling), has increased and will continue to do so in the coming decades. 9 Genetic technologies have become more cost-effective, accurate and efficient as health care institutions recognise their value in diagnosing diseases and guiding treatment recommendations 10 ; yet clinical integration of genomic medicine has been surprisingly slow when compared to technological advancements. 11 Implementing genomic medicine lags across a broad range of diseases and populations despite technological advances. 12 Health care providers report feeling unprepared and unconfident in their ability to use genomic medicine in their practices. 13 Similarly, patients report a limited understanding of the genetic tests available and difficulty interpreting their genetic results. 14 Even among healthcare providers incorporating genomic medicine into regular clinical care, patients and caregivers can still encounter a myriad of obstacles, including high out-of-pocket costs, long wait times, language barriers, privacy concerns and discrimination, potentially further disrupting access to genetic testing, counselling and treatment. 9,13 For genomic medicine to be fully implemented across specialties and conditions, barriers patients and caregivers experience must be identified and addressed using a multi-faceted understanding of the contexts in which these obstacles occur and how they are experienced.

| Ehlers-Danlos syndromes and hypermobility spectrum disorders
As a collection of rare diseases, Ehlers-Danlos syndromes (EDS) hypermobility spectrum disorders (HSD) are challenging conditions that are difficult to diagnose promptly and manage effectively. 15

EDS
(1:5000), a group of connective tissue disorders caused by genetically altered collagen is characterised by hypermobile joints, hyperextensible skin and/or chronic pain. 14 With thirteen different subtypes and six classification groups based on pathogenic mechanisms, patients can present symptoms along a wide spectrum from mild to severe. 16 HSD are a group of conditions with hypermobile joints, specifically the ability of joints to extend beyond a normal range of motion. 15 HSD presents with similar joint pain symptoms as EDS but without connective tissue complications (see Figure 1 for EDS and HSD subtypes). HSD is more common than EDS, with estimates of the disorder as large as 1 in 500 16 16,19 Healthcare providers may assign psychological explanations for physical symptoms, call into question EDS/HSD patients' credibility and dignity and leave patients feeling ignored or belittled. 20,21 Repeated negative healthcare interactions can lead to patient mistrust of their physicians and a lack of proper long-term medical treatment. 22 Efforts to increase clinician literacy surrounding EDS/ HSD have been made (e.g., ECHO). 23,24 Patients may have limited access to these knowledgeable providers and face numerous other barriers when seeking diagnosis and treatment. Therefore, many patients rely on social media to connect with other patients, caregivers and health professionals.

| Social media and health
Currently, 70% of Americans report using at least one social media platform to connect with others, including members of various health communities. 25 Patients and HCPs connect via social media to exchange information, find support and spread awareness. 26 Social media is increasingly used as a health resource, at all stages of the disease journey, as patients and caregivers rely on this interface to share experiences, express emotions, seek information and obtain healthcare provider recommendations. 27 Despite a significant increase in health-centric social media use and technological advances in the field of genomics, research focussing on understanding implementation into clinical practice has lagged. Social media listening for health research has previously been used in other health-centred investigations: e-cigarette usage, gaps in health messaging, pharmacovigilance and beliefs and behaviours about medication concerns. [27][28][29] To date, studies have not utilised a social media listening methodology to analyse the content of social media posts for virtual, organic conversations about lived experiences, particularly challenges in accessing genomic medicine. 30,31 The application of social media listening to understand the genomic medicine journey and health care experiences of individuals living with EDS/HSD has yet to be utilised. The aim of this study is to explore social media, particularly online health communities as a context, to uncover barriers to accessing genomic medicine among a population of those living with the rarified conditions of EDS/HSD.

| Modified social-ecological model
The current study investigates barriers to accessing genomic medicine through a social-ecological framework. Traditionally, the social-ecological model (SEM) explains nested relationships among social-structural, interpersonal and individual levels of influence. 32 The model accounts for the fact that individuals are influenced by interpersonal relationships and the broader societal context. The ability to access health resources is impacted by individual circumstances as well as the environment in which individuals are situated. 33 Individual barriers are the knowledge, attitudes, behaviours and beliefs that shape an individual's autonomy to engage in health-related decision-making. 34 Most frequently individual barriers are related to health literacy and in this study include a lack of information or misinformation about genomic medicine. F I G U R E 1 EDS and HSD types and diagnosis.
Environmental factors are outside of direct patient control and include both interpersonal and structural barriers. Interpersonal barriers may refer to relationships with others such as friends, family and health care providers that influence behaviour. 34 Difficulty getting a referral from a health care provider or disagreements among providers regarding appropriate diagnosis and management are several examples of interpersonal barriers. Although patients may seek access to genomic medicine, they can be obstructed by healthcare providers who influence healthcare decisions. While interpersonal barriers may be malleable for patients, social-structural barriers exist as the most removed barrier from patient control: societal norms, policies and practices that influence health-related decision-making. 34,35 Examples of social-structural barriers include long wait times to see geneticists, excessive travel times and high out-of-pocket costs. Addressing structural barriers, and to some extent, interpersonal barriers require institutional change.
In health research contexts, modified SEMs have expanded these three levels of influence to include functions of the product or technology (i.e., technological barriers) used in health care. 36 The current model was specifically adapted from the infectious disease literature. 36,37 In the context of genomic medicine, technological barriers include any issues directly related to the software or hardware used to receive genomic medicine (e.g., inconclusive test results and difficulty accessing results on a website).

| METHOD
Social media listening, or the study of online communication between individuals used to follow behaviours and interactions, is the overarching research methodology used in this study. 38 Using social media data to analyse health issues including chronic illnesses and cancer has been shown to be an innovative and viable research approach. 28 As a novel approach, social media listening allows researchers to examine barriers discussed via social media conversations, which may differ from those discussed in a room with a moderator or selected via a survey. As other studies have noted, this methodology captures opinions from patients and caregivers who might not choose to participate in a traditional study or who might answer differently in a formal research setting. 29 Social media listening methodology was applied across a targeted sample of patient and caregiver conversations to identify barriers to genomic medicine access. Key barriers were identified and classified by examining the conversations within the modified SEM (i.e., social-structural, interpersonal, individual and technological) framework (see Figure 2).

| Data analysis
Once the relevant posts were identified, researchers independently coded the data using NVivo 12 Pro, a qualitative data analysis software. 39 The coding team was composed of two researchers, including E. K., an applied social scientist and A. G., a qualitative researcher. The authors undertook a deductive coding approach, using the modified social-ecological framework. An extensive codebook was developed to operationalise each of the applied terms. The coders completed two rounds of coding: The first round identified posts that mentioned experienced barriers to genomic medicine using Scheppers 40 definition of barriers, 'anything that restricts the use of health services by making it more difficult for some individuals to access, use, or benefit from care'. The second round of coding catalogued the author and the level of influence of the barrier, using the modified SEM. The individual experiencing the barrier to genomic medicine was coded as the author. For example, if a post mentioned that both a mother and child had the same condition but only the child experienced a long wait time for genetic testing, then the author was only coded as 'caregiver'. The levels of influence coded in the second round using the modified SEM were sociostructural, interpersonal, individual, technological and not enough information (see Table 3).   Table 4). In some posts, 15% (51/345) mentioned two or more levels of influence in the same post: social-structural and interpersonal, 5% (18/345) and social-structural and individual 6% (19/345), co-occurred most frequently.
In total, the 345 posts from Inspire's EDS and HSD community containing experienced barriers were authored by 232 patients, caregivers, healthcare providers or unknown/other authors with the majority (77%) of Inspire members writing a single post about their difficulty accessing genomic medicine (see Table 5). All quotations presented in this paper were public posts or posts obtained with member permission. F I G U R E 2 Modified social-ecological model.

| Social-structural
Social-structural barriers are societal norms, conditions, local state or national laws, policies and practices; relationships between organisations and groups; and geographical/political regions that influence health and health-related decisionmaking. 34 Note: Keywords were used to extract Inspire member posts related to genomic medicine. a A search term was broadened to find all words that started with the same letters.
T A B L E 2 TextRazor tags. insurance coverage for testing continue to be described by patients and caregivers resulting in diagnosis and treatment delays. Health insurance often does not cover genomic medicine testing, leading to high out-of-pocket costs, financial stress or foregoing care.

Round of coding Code Code definition
Round 1 Experienced barrier An obstacle that a patient experienced themselves or that a loved one experienced when attempting to gain access to genomic medicine.

Round 2 Technological barrier
Issues directly related to the software or hardware currently used to receive genomic medicine. 36 Individual barrier Knowledge, attitudes and beliefs that shape an individual's autonomy to engage in health-related decision-making. 34 Interpersonal barrier Relationships such as family, friends, neighbours, health care providers and others that directly influence health and health behaviours. 34 Social-structural barrier Societal norms, conditions, local state or national laws, policies and practices; relationships between organisations and groups; and geographical/political regions that have an influence on health and health-related decision-making. 34 Not enough information Not enough context clues in the discussion or reply to identify the type of barrier. 34 explicitly requesting genomic medicine, some families report healthcare provider refusal.

Referral issues
When I mentioned EDS to the doctor they assigned me to she said 'we don't have time to get into that

| Individual
Individual barriers are the knowledge, attitudes, behaviours and beliefs that shape an individual's autonomy when engaging in healthrelated decision-making. 34

| Technological
Technological barriers to genomic medicine include software or hardware issues. For example, these barriers may be methodological (in screening for genetic conditions) or issues with the electronic health record system (i.e., navigability, clarity of results).

Inaccessible results
Does anyone know how to interpret raw genetic data to assess for different types of EDS? I searched online for specific SNPs to look up, but all I could find is the genes where different types of EDS stem from, but nothing about how to specifically assess those genes.
Unfortunately, while there is very clear instructions on how to use your raw data to assess yourself for many diseases, I can' find any similar instructions for EDS.
(Member 311) While consumer genetic tests are becoming more widely available and more affordable to patients, specific EDS results are not easily accessible via the internet. Even when test results are available, without healthcare provider guidance, many patients are left with genetic results that they are not able to understand or utilise to improve their health.
Often the user interface and navigation associated with patient-facing genome medicine software are not intuitive, which can lead to problems in the patient interpretability of results.

| DISCUSSION
Using a modified SEM as a framework, social media data from those living with EDS/HSD were explored to better understand how barriers to genomic medicine were described. To date, this study is among the first to catalogue barriers to accessing genomic medicine that patients, caregivers and occasionally health care providers discuss organically online. It is also one of the first studies to situate these barriers within a theoretical framework. The modified SEM KLINE ET AL.
| 1531 framework, long employed to promote health outcomes, was useful to identify obstacles influencing care that operate in symbiotic social-structural, interpersonal, individual and technological domains.
The advantage of using this model was that it provided a dynamic and integrative framework to conceptualise multiple levels of influence and reciprocal interdependencies. 37,41,42 The nature of the relationship between levels of constructs helps scholars transcend discussions focussed too narrowly on one level of influence while permitting identification of the levels that patients and caregivers most frequently and organically mention when trying to access genomic medicine.
Many patients primarily use social media for health communica- The barriers observed within this study largely align with other studies that have documented barriers to genomic medicine utilisation among patients and caregivers. 12,13,45,46 Within the literature, many of the obstacles patients face when accessing genomic medicine are structural, such as high out-of-pocket costs, long wait times and long distances to the nearest geneticist with availability. 6,9,12,13 Concerns about patients bearing the financial cost of genomic medicine are widely recognised, with many physicians expressing uncertainty about whether genomic testing can be implemented into regular clinical care due to the lack of reimbursement options outside of a research setting. 47 Even where genomic medicine is more readily available, affordability can still remain an insurmountable structural barrier.
Interpersonal issues between those living with EDS/HSD and those working in health care are major obstacles to accessing genomic medicine. Patients report experiencing interpersonal problems getting referrals, seeing a geneticist who is informed about their particular condition, receiving a variety of treatment options, and receiving conflicting information from different healthcare providers.
Largely, the aforementioned interpersonal barriers patients report could be attributed to a lack of knowledge and preparedness by physicians. 13  Historically, Inspire, like most online health communities, has not systematically collected information on the demographic characteristics of its members. Previous research has shown that social-structural barriers more frequently impact self-identifying Blacks and Latinx compared to other racial groups. 44,51 Unfortunately, the researchers were unable to assess levels of experienced barriers by race/ethnicity for this study. Additionally, EDS/HSD diagnoses cannot be confirmed as members self-report information about their diagnosis and treatment.
A second limitation of this study is the type of posts on social media health platforms. According to the negativity bias, online health community members tend to compose posts that are negatively balanced to garner attention and social support. [52][53][54] Therefore