Rare Disease is Too Common – I Want More Families to Get Answers

Rare diseases are shockingly common. More than 350 million people worldwide are affected by a rare disease – that’s more than cancer and AIDS combined. Approximately half of those affected are children, 30 percent of whom will never see their 5th birthdays.

As we approach World Rare Disease Day on February 28, another shockingly common thing is on my mind: Although it is known that 80 percent of rare diseases have a genetic cause, the vast majority of children born with rare diseases do not receive whole genome sequencing, even though it can provide a diagnosis in perhaps half of all cases.

I’ve had the honor of meeting the parents of several children affected by rare diseases who did receive sequencing and listened in awe as they described how genomics changed the course of their families’ lives. Sometimes the story ends with the child getting a life-altering treatment. In other cases there is no treatment – yet – but the results empower the family to connect with a research project or start their own. And sometimes the outcome is simply an answer --- an extremely precious thing to parents who previously felt powerless, who didn’t know if their other children were at risk, who had to wonder how many more birthdays they would get to celebrate with their child.

I want more families to get answers.

I’ve written previously about how clinician education is a key need in order to recognize the full benefit of genomics in the clinic, especially for rare and undiagnosed genetic diseases. There’s the need to educate providers on the clinical utility data that exists, but to truly see this technology spread, we also need best practices to be developed and disseminated.

That’s why Illumina has joined with seven leading health care and research organizations in the U.S. and Canada to launch the Medical Genome Initiative. By providing a consensus blueprint for clinical whole genome sequencing implementation, this consortium has the potential to catalyze more rapid adoption and wider availability of this powerful technology.

Patient education is also important. But we shouldn’t expect a family coping with a seriously ill child to dig into the world of genomics and try to navigate getting access and coverage on their own (though plenty of them have – see here for just one example). That’s why it’s critical that we engage with the patient advocacy organizations that provide these families with information, support and guidance. The Illumina Foundation recently hosted several of these groups for a day of knowledge sharing and, importantly, listening. In all that we do, we must keep the perspectives of the people whose lives we are trying to impact at the center.

For the families of kids with rare diseases, every day is Rare Disease Day. We must all keep that in mind as we work to bring the benefits of genomics to this clinical area. As a start, I encourage everyone to take a moment on February 28 to educate yourselves and show your support. Visit one of the organizations below (there are many others, feel free to leave suggestions in the comments) and learn the stories of these brave patients and their parents. And don’t forget to wear your #JeansForGenes. 

• Eurordis
• EveryLife Foundation
• Genetic Alliance – UK
• Genetic Alliance – U.S.
• Global Genes
• National Organization for Rare Disorders
• Rare Disease Society -Singapore
• Rare Genomics Institute
• Syndromes without a Name – Australia
• Unique