In part one of this two-part series, Craig Martin, CEO of Global Genes, and Geoff Case, digital editor at RARE Revolution Magazine, discuss the challenges revealed by Global Genes’ 2022 Rare Disease, Equity, Diversity and Inclusion (EDI) Report

Thank you very much, Craig, for meeting with RARE Revolution. Global Genes is such a well-known organisation, but could you, as its CEO, please remind us of its purpose and mission?

At the highest level, our purpose is to eliminate the burdens of rare disease for 400 million plus patients and families living with one or more of 10,000 rare conditions. And that’s obviously a huge task, when you think about the fact that less than 5% of those thousands of rare diseases have an approved treatment, and that the journey to a diagnosis takes about five to seven years. Given the enormity of that task, we view ourselves less as an advocacy organisation and more as an enablement organisation; we try and help individual caregivers and families, emerging communities of patients or established patient groups to try and take the next best step forward. We connect them to resources or expertise that can help to advance progress towards a diagnosis, care or treatment in their disease area, and to provide opportunities for them to participate in initiatives that advance the cause of all rare diseases.

Global Genes released its 2022 Rare Disease, Equity, Diversity and Inclusion Report in early February. Could you please tell me about the purpose of the report, the motivation for it and the process that led to its creation?

The report itself is designed to raise awareness of some of the unique challenges that are faced by rare disease patients from communities of colour and other minoritised communities, and to highlight some of the efforts, ours and those of others that are out there, working to address those challenges and gaps. From our perspective, the report is a manifestation of several efforts.

What’s critical is the work that’s being highlighted within the report. We won’t get to the goal of equity and inclusiveness if we’re not out there, rolling up our sleeves, collaborating, and making it a part of all our efforts. 

The journey towards diagnosis, as you said earlier, is often an odyssey for people with rare diseases, lasting many years. The rare community is by definition a minority one, but what additional challenges are there for people from minoritised communities who have rare diseases?

As you mentioned, rare diseases are already an underserved community, but there are some particular dynamics in communities of colour and other minoritised communities that present further challenges. That can include a lack of access to genetic testing or sequencing. It can include bias within the system. It can include distrust that maybe prevents or discourages some families of rare disease patients from wanting to access healthcare. Then there are a host of other things, and some of these were exacerbated during the pandemic, like access to telehealth technology and services and things of that nature that might cause some discontinuity in a patient’s record or their medical history that might delay a diagnosis. Issues around cultural competency within health specialties; when there is a conversation between a patient or a caregiver and a clinician that may be part of their care team, are both parties understanding what’s being said and communicated, and the clinical relevance of that conversation?

There is a lot of work to be done. And some of these gaps, there are organisations that are focused on it, but we’ve got to make more progress. That’s really part of what our health equity initiatives are designed to do.

Could you give some further examples of the additional barriers that communities of colour and other minoritised communities face?

To expand, if patients are in a community that struggles to afford access to genetic testing, for example, and they don’t have adequate coverage, or their insurer doesn’t provide coverage for certain types of testing, then they may be at a disadvantage in getting a diagnosis, or they may not be aware of the things to look for in terms of signs and symptoms of a condition and how to communicate those things to a clinician in a way that clearly conveys the significance of it. 

About half of all rare diseases are neurological. And when you look at childhood rare diseases, close to 90% of those diseases have a major neurological component to them. Particularly during the pandemic, when everybody was sort of cloistered at home, but in general even, it’s the caretaker that has the responsibility for observing and chronicling what’s going on with their child or loved one, with respect to these neurological conditions. How you describe a seizure or movement disorder or different aspects of what that patient may be experiencing can obviously be pretty subjective, and it can vary quite a bit in terms of the terminology used. That’s a big challenge and burden for that caregiver: to take that information and be able to convey it in a way that might help lead to a diagnosis faster with their clinician. 

If a caregiver is in a situation where they already feel somewhat hesitant about interacting with the medical community, that can create additional challenges. If the best path forward for that patient is genetic testing of some kind, for example, and there’s scepticism among patients from that community about that sort of testing and what it’ll be used for, it could delay or even prevent a diagnosis from happening. 

There are a host of other issues talked about in the report—these barriers all have an impact beyond just an individual patient and their access to a diagnosis or care. It also ends up, downstream from there, creating inequities in terms of participation in clinical trials, because if that patient has not been identified as having a condition, and they’re not in the system, if their data is not accessible, then they won’t be found. They won’t be identified. They won’t be qualified for a clinical trial.

And oftentimes, because so few rare diseases actually have an approved treatment, a clinical trial may be the only treatment option available—if they’re fortunate enough to have one in their disease.

Right, so these barriers are not just about the initial diagnosis; there are far-reaching consequences down the line. You mentioned COVID-19. That has had a massive impact on healthcare generally; has this impact been felt equally, would you say?

There have been some disparities in terms of the impact on families and communities. Not necessarily along ethnic or racial lines in all cases. But there are elements such as access to telehealth, for example. And there may be situations where the digital divide creates a barrier for one family that isn’t there for another family. As a result, they may at times not have access to important clinical guidance, or they may not have a telehealth intervention that could lead to a diagnosis that could lead them into a care path that might be really helpful for their child or loved one.

These disparities have a wide-ranging impact. They’re across different communities, but they are perhaps particularly felt in in some of these minoritised communities.

To go back to the clinical trials issue again, the disruption of trials was something that impacted the whole community. But, if you are living in a rural setting, or somewhere where there’s already the challenge of getting to a centre of excellence where that trial may be, now that’s compounded by the fact that the trial isn’t able to continue. That presents additional challenges for the community.

Thank you very much, Craig. This is a great overview of the challenges.

Part 2 of this series will follow next week, in which Craig and Geoff discuss the glimmers of hope in the Global Genes 2022 EDI report.

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