Strength in numbers: Because having a rare disease isn’t rare

Rare doesn’t mean insignificant – in fact more people live with a rare disease than with cancer and AIDS combined.
A decade after personal experience prompted her to found Global Genes, Nicole Boice tells Deep Dive that rare diseases need to be a global priority, and why she hopes her own organisation is heading towards obsoletion.

Rare, common and hugely impactful

The rare disease community faces multiple challenges, not least the “diagnostic odyssey” and an acute lack of treatments.

These issues, explained Nicole, are compounded by a global ignorance around the sheer number of people impacted by one of the 7,000, mostly genetic, conditions.

“Changing the mindset that ‘rare’ means small and insignificant is a challenge,” she said, adding that rare diseases affects one in 10 Americans, and 350 million people worldwide.

“While we’ve made great progress in treating AIDS and some cancers, there are treatments for fewer than five per cent of the more than 7,000 rare diseases.

“That means nearly 30 million people in the United States, more than half of whom are children, are facing devastating and life-threatening diseases without any treatments. In fact, nearly a third of all infant deaths in the US are associated with rare disease.”

Part of Global Gene’s mission is to ensure that the urgent need for treatments for these conditions is understood and becomes both a national and global priority, she added.

Developing and accessing new medications

Recent medical advances in areas such as genomics have placed more of a spotlight on the plight of people living with rare diseases and their families. But still more needs to be done, Nicole believes.

“The biggest issue for rare disease families remains timely access to effective diagnoses and therapies,” she said.

“In recent years there has been a lot of exciting scientific advancement and growing interest in developing new treatments, which is great, but 95 per cent of rare diseases still have no treatments available.”

Progress is marred by the challenges of developing drugs for small patient populations. These include the huge financial risks to manufacturers and the difficulty of building robust evidence.

“We need to continue to incentivise investment and collaboration, to ensure research institutions and companies remain willing to take on the unique challenges associated with developing treatments for complex conditions that affect small populations of patients,” said Nicole.

The new products that are coming through undergo great scrutiny in terms of costs, which not only creates a significant barrier to access, but also runs the risk of slowing innovation further.

“While pricing and coverage are critical issues, we need to look at each treatment and condition area through the lens of patient and caregiver experience. That way we can make sure the true benefit and value is factored into any assessment,” said Nicole

The “unique characteristics of rare disease drug development, diagnosis, treatment and support”, she added, needed to be weighed against the costs and implications of patient care with no approved therapies.

“Otherwise we may inadvertently impose restrictions that discourage companies from pursuing drug development for rare and ultra-rare populations while doing nothing to bring down costs,” said Nicole.

Stakeholder collaboration

The RARE Access to Critical Therapies Summit, which Global Genes hosted with the Child Neurology Foundation late last year, was part of a programme to build a consensus on how to overcome these issues.

It looked at ways all stakeholders, including patients, doctors, payers, industry and policy makers, could work together to strike the right balance between managing costs, assuring access and encouraging innovation.

The final agreement, expected later this year, will build on the organisation’s long-held mission – to eliminate the challenges faced by people with rare diseases.

“Our mission hasn’t changed since our founding,” explained Nicole, who started Global Genes after a close friend’s son was born with serious complications but did not receive a diagnosis until he was four.

She continued: “With no answers, no next steps and no support, I saw a vibrant family turned upside down in their desire to help their son.

“But I also saw the power of connection through the other families my friends met, regardless of a diagnosis. I saw the power in sharing best practices and the importance of shared learnings, and, most of all, I saw the importance of finding a tribe.”

Understanding that patients and families needed a place from which to glean support and learn from each other, Nicole created Global Genes.

In the early days, the non-profit was focused on raising awareness, and she described the last decade as an “amazing and humbling journey”.

“Ten years ago, we were working on a shoestring budget with a handful of volunteers.

“Now we’re involved in global programs and initiatives that reach millions of people: hundreds of thousands of patients, more than 600 established patient foundations, more than 70 leading companies working in rare disease and hundreds of researchers,” she said.

Over that time, the patient advocacy space has also changed significantly, and groups have become much more directly involved in driving innovation and progress.

Empowering data

Much of this has been driven by necessity, Nicole said. As more of the cost of care has been moved to patients, advocates have needed to equip them with the knowledge of healthcare, innovation and R&D required to take on that responsibility.

“But the other critical shift has been the advancement and uptake of new technologies.  Genomic sequencing has become more widely available, cheaper, and both culturally and clinically relevant.  At the same time, health information of all types has become more digital, mobile, shareable, and valuable,” said Nicole.

“Patient communities now recognise that data holds the key to everything, and advocates are learning they can harness that data, along with access to communities, to fuel and accelerate innovation on their own behalf.”

Empowering patients

The huge potential of data for drug discovery and development, clinical trials, faster and more precise diagnoses and treatments, and improved safety and outcomes relies on crunching the numbers on huge numbers of people.

But Global Genes is just as proud of the work it does on the micro level, such as connecting families to each other, helping them to build their own communities and connecting them with researchers working in their disease.

“We might even help them to connect with an industry partner that is interested in helping take a promising discovery forward, which could ultimately result in a treatment in a disease where there were none.  Each step may seem small, but they are all connected and all important.

“Because of our more intimate focus, our biggest achievements are sometimes seemingly small in scale, but hugely important in the lives of one family, or one community of patients,” explained Nicole.

The road to obsoletion

Every day is Rare Disease Day at Global Genes, but February 28 does offer an opportunity to make even more noise than usual.

This year’s theme, bridging gaps in the coordination of medical, social and support services, is especially pertinent to the group’s work.

“The keys to effective coordination and bridging gaps are connectivity – giving stakeholders the guidance and tools they need to work effectively together. That’s what our model is all about, so this theme really resonates with us,” said Nicole.

“With the launch of our new web and community portal, and several other new programs rolling out this year, we hope to collaborate with others to close these gaps and help ensure that the total needs of rare patients and caregivers are met.”

One such programme is a bold new initiative that will help reduce barriers to genetic testing and sequencing, provide patient groups with free access to best-in-class technology and support to create registries in their own disease areas. With an interoperable data repository and platform that will bring disparate, patient- and disease-specific data sets together in one environment.

Patients will then be able to quickly find others like them and aggregate and analyse their own data, as well as make it available to other patients and caregivers, family members, doctors or researchers.

Global Genes is currently collaborating with other stakeholders to make this dream – and with it the group’s ultimate aim – a reality.

“Our ambition is to become obsolete,” said Nicole.

“We want to advance to the point where we have helped every rare patient community to become effective disease architects who are connected and empowered participants in drug development, and well on the way to having access to effective treatments for all rare diseases.”

About the Interviewee

Nicole founded Global Genes after being personally touched by rare disease through a friend whose son struggled for more than two years to find a diagnosis. After learning there were no treatment or cures, Nicole became determined to connect rare disease patients and advocates with resources, support, and hope.

After receiving her degree from the University of California, San Diego, Nicole held numerous consulting, sales and marketing executive roles in media, pharmaceuticals and tech. Nicole is a proud mother of two children and two adopted dogs. In her spare time, she enjoys hot yoga, fitting in a workout at the gym, and playing volleyball in Laguna Beach.

About the Author

Amanda Barrell

Amanda is a freelance health and medical education journalist, editor and copywriter. She has worked on projects for pharma, charities and agencies, and has written extensively for patients, healthcare professionals and the general public.

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