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

The report establishes that there are clear inequities in healthcare for minoritised communities. Is there any evidence in the report of progress towards better outcomes for these populations?

There are certainly glimmers of hope. We’ve been working, for example, with the Rare Disease Diversity Coalition, and they were a partner in our health equity summit. That’s led to an initiative that we’re rolling out this year around family health history. One of the needs we’ve identified is that oftentimes, particularly in certain communities of colour, information about diseases may be passed from generation to generation and shared in family stories or lore, but it’s not documented. Or, in some instances, diseases may just not be talked about. 

As a result, there’s no information available to help inform a diagnosis or to help gain access to treatment for those patients, and that just perpetuates. Our goal is to increase understanding and awareness of why it’s important to consider your genetic makeup, why genetic testing can be important, and how to have and capture conversations generation-to-generation in a way where it can better inform the interactions that you have with the medical system. 

There are initiatives like the family health initiative that are moving along out there. And I know there are certainly more efforts underway to drive access to genetic testing. We’re launching a programme as a follow-on to an initiative we did around patient identification, inclusion and engagement for rare CNS (central nervous system) disorders, looking to offer access to genetic testing, and whole exome or whole genome sequencing for patients facing a neurological condition. 

I’m optimistic of the collaborations going on right now. And if we continue to focus on that, we’ll find a number of different ways to close gaps.

So, there are glimmers of hope, but collaboration needs to be the focus in order for the gaps to be closed. How is Global Genes helping to drive progress in terms of equity, diversity and inclusion?

The partnership I referenced with the Rare Disease Diversity Coalition is an important one. That was an organisation that arose out of the Black Women’s Health Imperative, but now involves a number of different companies and patient organisations, and clinical or healthcare organisations. We’re working in a variety of different areas, but one where we’re collaborating most closely is around diagnostic delays and gaps. That’s an important first step; if that’s a disparity we can address, then we’ll find patient populations are truly representative of the community. And it creates more opportunities for patients from minoritised communities to participate in research to gain access to diagnostic tools, and ultimately, receive care and treatment on a level playing field.

More importantly, as an organisation, as we look across the initiatives that we’re doing, we don’t want to look at equity, diversity and inclusion as a distinct project or cause that is separate, but rather something that is seamlessly and inherently embedded into all of the programmes. We’re constantly asking the question: are we being adequately inclusive in the way we’re going about this; are we providing more opportunities for our programmes to reach more diverse populations than they currently are?

So, rather than being a separate endeavour, EDI has become part and parcel of Global Genes’ main efforts. Now, the report discusses various grants. There is, for instance, the RARE Patient Impact Grant Improving Cultural Competency. Could you please explain how that works and how this will support EDI?

One benefit of our Impact Grant process is that it helps to identify and attract new and diverse organisations to our foundation alliance. That alliance consists of more than 830 patient groups across a range of rare diseases—I think it spans more than 1,000 rare diseases now. And when we issue these grants, it’s an opportunity to directly support the work of those organisations, helping to enable that best next step forward for them. 

But it’s also an opportunity for us learn. In the grant process we often find organisations we aren’t able to fund yet, but who are finding creative solutions to problems their community is facing. We can learn from the different methods that these communities are exploring to try and be more inclusive and equitable in the way they reach and engage with their communities. 

For example, one of the grant applications was focused on sickle cell disease, and that’s a disease that gets a lot of attention with respect to its impact on Black and African American populations. But what was interesting is that this group was really focused on how we reach more of the Hispanic and Latino community because sickle cell disease also has an impact in those communities, and we don’t want to exclude them—we want to try and find better ways to bring them in. 

There’s lots of creative thinking about how best to go about reaching different communities and how to build more cultural competency into the entire health system and among all stakeholders, so that we start to overcome some of those gaps.

That creative thinking you are seeing with the cultural competency grant sounds really powerful. There’s also the Financial Advocacy RARE Patient Impact Grant; could you please give examples of how that grant improves outcomes for minoritised communities?

What we try and do is not to be overly prescriptive about the particular types of grant submissions we’re looking for. As a result, we often receive applications spanning a wide range of different solutions and communities, or that are specific to some really unique gaps or challenges from a financial perspective within a community—which may or may not be related to treatment or day-to-day medical needs. Often it can extend well beyond that. 

For example, the day-to-day burdens rare disease families face often require that one—or in some cases more—of the family unit isn’t able to work, or their ability to work regularly is impacted. We also see examples where families move from one state to another state, or one location to another location, because a state Medicaid system, or whatever system it may be, is more favourable towards their ability to be reimbursed for treatments and to get access to the right type of specialists in that market.

There are many remarkable aspects of the day to day lives of individual patients and families that go unnoticed or are undervalued. A lot of the attention goes towards how much the treatment costs or how much hospitalisation costs and things like that, which are big burdens. But if you look at the EveryLife Foundation’s Burden of Rare Disease Report, the cost overall of rare disease in our economy in the US is close to a trillion dollars a year, and then if you look at the individual level and think about the impact rare disease can have on a family, it’s pretty immense.

Yes, the burden of rare disease is immense for families and for the whole economy. You’ve also got the RARE Compassion Program. This sounds like an exciting development that will help healthcare professionals achieve a better understanding of what it means to be a person with a rare disease. How is that programme working in practice? What benefits for patients and for healthcare professionals have emerged?

This is one of my favourite programmes. It’s designed to pair medical students with rare disease families, and we’ve been doing it for a number of years now. This past year we focused in particular on trying to pair medical students from communities of colour or other minoritised backgrounds with families from communities of colour. And through that process this year, for the first time, we did a pilot linking with another of our programmes called Rarely Told Stories, which is designed to enable participants in our programmes, or advocates in general, to create short films that are purposeful. So, we had a contest as part of our Rare Compassion Program this year that generated several different films.

Our goal is to take those films back to medical schools and to say, “Hey, listen. You need to make this a regular part of your curriculum.” Because from these experiences, hearing from both the families and aspiring clinicians, we really learned a lot about what the day-to-day challenges are for these families. And as a result of that, the aspiring clinicians now have a sensitivity not only to look for rare disease and understand what some of the signs and symptoms may be but to also be more aware of who the family is, who the patient is, and what they’re going through on a day-to-day basis. We think that’s valuable. 

We’ve also seen the programme inspire several medical students to go on to pursue a specialty that’s particularly relevant to rare disease. There’s six- or seven-hundred alumni now that are part of the programme too. We want to ensure we’re continuing to tap into that, as well as building new awareness and broader awareness across medical schools. We’re in the process now of doing the matching for the programme this year, and we had around 800 families apply—there’s a lot of interest out there. It’s been helpful for the families too because they start to understand what a medical professional might go through in terms of the process of trying to diagnose them or get them access to treatment.

That is such an inspirational and powerful initiative, and the interest it has garnered is wonderful. Finally, Craig, now the report has been published, what are your thoughts about how we can best unlock faster progress towards diagnosis for rare patients in general and minoritised communities in particular?

Well, I think a lot of it’s about collaboration; there is such a high level of unmet need. And we need to be reaching out not just to the biotech or pharmaceutical industry, or to government organisations, or to advocacy groups, but also to other institutions, within communities—whether that’s faith-based organisations, or civic leaders, or others who have a level of influence and understanding about the day-to-day needs and concerns in the lives of patients from those communities—and get them engaged. Because that’s going to do a lot to engender the kind of trust and active engagement that we’re going to need if we’re going to have a substantial impact in improving the lives and the options available to patients and families from those communities.

So, collaboration is a key to unlocking faster progress in meeting the many unmet needs within rare disease. Craig, thank you very much indeed for your insights into the Global Genes Rare Disease, Equity, Diversity and Inclusion Report.

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