Research reveals barriers to genomic medicine for people with EDS

The Ehlers-Danlos Society estimates that as many as 1 in 5,000 Americans have Ehlers-Danlos syndrome (EDS). An unknown number of people are living with hypermobility spectrum disorders (HSD), although the condition is thought to be more common than EDS.

What are Ehlers-Danlos syndrome and hypermobility spectrum disorders?

People with EDS and HSD have hypermobile joints that easily dislocate or cause sprains and other injuries. This joint instability can lead to severe, chronic joint pain that negatively affects quality of life. 

Colorful zoomed in film of DNA

Experts are still exploring the possible causes of HSD. However, EDS is a known genetic connective tissue disorder. Connective tissues support organs, muscles, and other tissues throughout the body. A protein called collagen gives connective tissue its strength and flexibility. 

People with EDS have a gene mutation that causes their bodies to make weakened or insufficient amounts of collagen. As a result, their skin may be softer and thinner than usual. It also stretches more than it should (also known as hyperextensible skin). (The exception is hypermobile EDS or hEDS, which currently has no identified genetic markers.) An adult with the mutated gene that causes EDS can pass it to their children, affecting generations of family members.

EDS and genomic medicine

Genomic medicine—the study of genes (DNA) that contribute to diseases and an individual’s unique response to disease treatments—shows great promise in helping people with EDS get accurate diagnoses and appropriate treatments for a wide range of conditions. However, patients commonly face many obstacles when accessing genomic medicine. 

To better understand the types of barriers to genomic medicine facing the EDS patient population, Inspire researchers partnered with The Ehlers-Danlos Society and research experts from Boston Children’s Hospital and Colorado Children’s Hospital to conduct a first-of-its kind study. This multidisciplinary team used a modified social-ecological model (SEM) to analyze the content of social media posts from members of the EDS and HSD support community on Inspire

The study, “Using social media listening to understand barriers to genomic medicine for those living with Ehlers-Danlos syndrome and hypermobility spectrum disorders,” appears in the April 16, 2023 issue of Health Expectations, a health and social care journal. The study was funded by a National Institutes of Health (NIH) grant.

Healthcare providers, genomic medicine specialists, and pharmaceutical health economics and outcomes research (HEOR) teams can leverage the study findings to improve communication and health literacy about genomic medicine and help people living with EDS.

About the EDS and HSD support community on Inspire

More than 126,500 people from around the globe are members of the EDS and HSD support community on Inspire. The Ehlers-Danlos Society partnered with Inspire to create this online health community, serving as a trusted resource for Inspire community members.

People with EDS or HSD, as well as their family members, friends, and caregivers come to Inspire to share their personal experiences. Most commonly, they seek advice and support from other community members on issues ranging from getting an accurate diagnosis, finding the right specialists, managing chronic pain, and improving quality of life. 

Using social media listening to determine barriers to genomic medicine

Researchers utilized Inspire Patient Voice (IPV) research methodology to identify and categorize posts about genomic medicine shared by members of the Inspire online EDS and HSD community. IPV is a type of social listening research tool that aids the study of online communication between individuals. It helps researchers better understand people’s behaviors and interactions.

“Analysis of virtual, organic conversations from those living with EDS and HSD provides valuable insights into barriers to genomic testing, treatment, and counseling,” says Erika Kline, PhD, Inspire senior research analyst and lead author of the study.

“One benefit of social media listening is that it often captures the thoughts of people who might not be comfortable participating in a formal research setting, focus group, or survey.” 

The research team analyzed more than 1,949 unique member posts shared by 232 Inspire members from 2019 to 2021. The team employed a modified social-ecological framework to code all posts with mentions of barriers to genomic medicine. They also coded for types of barriers and authors, such as patients or caregivers.

People with EDS cite four main barriers to genomic medicine access

Researchers identified 345 posts that specifically mentioned barriers to accessing genomic medicine. They categorized the barriers into four types: 

  1. social-structural barriers to genomic medicine
  2. interpersonal barriers to genomic medicine
  3. individual barriers to genomic medicine
  4. technological barriers to genomic medicine

1. Social-structural barriers to genomic medicine

Of the 345 analyzed member posts, half cited social-structural barriers as the biggest obstacle to genomic medicine.

Social-structural barriers refer to factors outside the patient or caregiver’s control. These may include long wait times to see geneticists, excessive travel times to see a geneticist, and high out-of-pocket costs for genetic testing.

“One option to address some of the social-structural barriers is virtual appointments,” says Dr. Kline. “This removes excessive travel times and can allow HCPs to see more patients.”

From the community: “I had never heard of EDS and waited a year to see a geneticist once I came across it.”

2. Interpersonal barriers to genomic medicine

More than 100 member posts cited interpersonal relationships with family members, friends, and healthcare providers as an issue. Family members who are unsupportive of genetic testing are one example of an interpersonal barrier. Members also shared frustrations about healthcare providers who refused to make a referral for genetic testing or dismissed patient symptoms. 

“We found that many people turn to virtual support groups like Inspire for help resolving conflicts with loved ones and healthcare providers,” says Inspire senior research manager A. Leigh Garrett, PhD. “Online communities can also provide the support that may be lacking from a member’s interpersonal relationships.”

From the community: “When I mentioned EDS to the doctor they assigned me to she said, ‘we don’t have time to get into that right now,’ but her face told me she had no idea what I was talking about. I do not have much faith she will refer me to a geneticist.”

3. Individual barriers to genomic medicine

About a quarter of the member posts mentioned individual barriers to genomic medicine. Individual barriers, including health literacy, influence health-related decision-making. “Lack of information and misinformation about genomic medicine were common individual-level barriers,” says Dr. Garrett. “We found that many people think geneticists only diagnose conditions, when they also can provide treatment and counseling.”

This community post shows evidence of this commonly held misconception about the role of a geneticist: “Hypermobility alone is not enough for an hEDS diagnosis. However, all the geneticist is qualified to do is diagnose. Do not be disheartened that the geneticist was not helpful about treatment—they would not have been helpful about that even if hEDS was diagnosed.”

Members also cited a mistrust of insurance companies and concerns about having the diagnosis on their medical files. Other individual barriers include confusion about how certain gene variants determine an EDS diagnosis, and worries that a person is too young or old for genetic testing. 

4. Technological barriers to genomic medicine

A small number of member posts—about 4%—centered on technological barriers to genomic medicine. Members expressed concerns about test accuracy, inconclusive results, and an inability to understand the test findings.

“Unfortunately, patient‐facing genomic medicine software isn’t always intuitive or user-friendly,” says Dr. Kline. “This means many patients are left with genetic results they can’t understand or use to improve their health.

From the community: “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 are very clear instructions on how to use your raw data to assess yourself for many diseases, I can’t find any similar instructions for EDS.”

Benefits of social listening research

This social listening analysis using Inspire Patient Voice successfully identified and indexed barriers to genomic medicine discussed organically online by patients, caregivers, and occasionally healthcare providers. At the time of publication, this study was one of the first to utilize a social-ecological model to explore nested relationships among social-structural, interpersonal, and individual relationships as they pertain to EDS.

“Applying the novel social listening methodology helped identify barriers that might not emerge as readily in interviews, focus groups, or surveys,” says Dr. Garrett. “The unstructured, real-time and impromptu nature of social listening can reveal sentiments often missing or overlooked by other research methodologies.”

Inspire’s Real World Voice analysis is available as a standalone service or part of a broader Inspire PatientJourney+™ market research study. This process advances the understanding of a disease and its related treatment journey as shared by those directly affected by it.

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