Wendy White: Precision Medicine and the Future of Rare Disease

February 28, 2015

There’s been a great deal of excitement around President Obama’s announcement that he would devote $215 million of his 2016 budget to a new Precision Medicine Initiative including funds for a database at the National Institutes of Health (NIH) that will house genetic and lifestyle information, biological samples, and links to EMRs voluntarily contributed by 1 million Americans.

It is a sign of where medicine is going in the future – patient-powered research on treatments that target subgroups of people, based on their unique biological traits. Although the initial focus will be on cancer, the hope is that this collaborative effort between healthcare institutions, scientists, physicians and patients will be a rich source of data that will accelerate treatment for all diseases.

But the growing interest in precision medicine has also raised a lot of questions, not the least of which are, “What exactly is it?” and more importantly, “What does it mean to me?” To make precision medicine easy to understand, Siren Interactive has created an infographic for you to share with your networks to mark Rare Disease Day 2015: We Are All Zebras: How Rare Disease Is Shaping the Future of Healthcare.

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Click Image to See Infographic

We’ve also put together some topline answers to the questions people in rare disease communities are asking, along with some ideas about what they can do.

What is precision medicine?

It’s an innovative approach to disease prevention and treatment that takes into account individual differences in people’s genes, environments and lifestyles. Diagnostic tools are used to identify biological markers, often genetic, and determine which treatments and procedures will be best for each patient. By combining this information with an individual’s medical records and circumstances, precision medicine allows doctors and patients to develop targeted prevention and treatment plans.

How will it impact rare disease communities?

It already has. In fact rare disease is in a sense where precision medicine was born—and it’s where some of the biggest successes have taken place when researchers have been able to identify the genes underlying rare diseases. Bringing together data on genetics, biological samples, and diet/lifestyle from many different databases and combining them into one huge biobank will likely speed progress for all disease populations, as well as our knowledge of how to treat them. It is a tremendous opportunity to advance understanding of rare disease—if we are ready to participate and advocate.

What should rare communities do?


The rare community has always been at the forefront of precision medicine, partly because we have so much at stake, but also because we have so much to offer. We must maintain our leadership by continuing to lead and innovate. The President’s Precision Medicine Initiative is following a path that the rare community has been walking for a long time: building patient registries, leveraging big data to see patterns and including patients as active partners in research.



Building the case for rare diseases will always be important in a world of limited resources. In the 32 years since the Orphan Drug Act was passed, more than 3,000 products have received orphan drug designation and more than 450 have been approved by the FDA. This could not have happened without the incredible drive of parents and caregivers. But it’s important to continue to advocate with political leaders, industry and healthcare institutions. We have a good case to make. Time and money invested in rare diseases pays dividends in new knowledge that can be applied to all diseases and may save resources that would have been spent treating chronic disease.


+Educate Yourself

Because information about rare diseases is scarce and doctors are often unfamiliar with these zebras of medicine, rare disease patients and caregivers have had to become experts themselves. The skills they have developed will serve them well as we launch into the rapidly evolving world of genetics and epigenetics. One great resource to help you learn about these topics is the Genetic Science Learning Center [], created by the University of Utah Health Sciences to educate those of us with a deep interest who are not (yet) experts.



Connecting and sharing are two things the rare community does better than anyone. The strength of President Obama’s Precision Medicine Initiative is its ambitious reach and its goal of using big data to solve challenging problems. Rare communities can share in the benefits by expanding their reach, too; making connections with patients, families, physicians, researchers, and other rare disease advocacy groups, locally and globally. Social media and online tools have made these connections possible. Data privacy is a real concern that can be a barrier for some people and data ownership can be a barrier as well. But the Precision Medicine Initiative also includes budget to address these issues.

The slogan of Rare Disease Day 2015, “Day-by-day, hand-in-hand,” captures the spirit of this community and points the way to the future. President Obama’s Precision Medicine Initiative will grow the ranks of researchers, scientists, government officials, technology experts, healthcare professionals and patients themselves working together to accelerate the development of treatments. There has never been so much reason to hope.

Remember your power. We are a vital resource and our contribution can improve healthcare for everyone.



Wendy_WhiteAbout The Author, Wendy White

Since founding Siren Interactive in 1999, Wendy has been recognized as a thought leader at the intersection of niche pharma brands, patient empowerment and online marketing. Her vision for how the internet can facilitate interactions and provide crucial information that patients, caregivers and their healthcare providers previously struggled to find has propelled Siren to the forefront of relationship marketing for rare disorder therapies.

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