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Sometimes you get to be a part of something that can change the world. The past year spent working with the Global Commission has been one of those opportunities. It’s inspiring and humbling at the same time. I’ve relished the steep learning curve, as I worked with some of the most brilliant minds in this field, and now I have every confidence that we’ve created a roadmap and momentum that will lead to meaningful change in this very human domain. Let me share some of my key learnings.

Rare disease is by definition rare. If I had continued working in emergency medicine or primary care, it’s likely that I would never have seen many of these conditions in my entire career. If I was the first (or even the second, third, or fourth) practitioner an undiagnosed family approached, would I have the acumen to think rare disease, or would I instead default to diagnosing and treating the most likely conditions? It happens every day. It takes on average seven consultations and five years before children with a rare disease are finally diagnosed.

However, rare diseases collectively are NOT rare. With approximately 6000 rare diseases identified, the total of people with rare disease worldwide is estimated at a staggering 350 million. There are almost 30 million in the US alone. Each child with a rare disease has a support network of family, friends and carers, that means the true human impact of rare disease in our society is frighteningly high.

Herein lies the problem. We have a mismatch between supply and demand. An estimated 80% of rare diseases have either a single or multi-variant genetic cause. We simply do not have enough geneticists in the world to effectively scale the current medical referral model, even if genetic testing was cheap and accessible to all. Even in developed countries we have bottlenecks, and the issue is compounded in developing nations. We need solutions that address these constraints. Solutions that fundamentally deliver diagnostic services in entirely new ways, if we are to make inroads in shortening the time to diagnosis and treatment.

This is where the Global Commission has focused efforts. Recognizing that the holistic answers are bigger than any one company, this collaboration has brought together rare disease specialists, life sciences experts, and technologists to work through these challenging issues. I am excited about the role of technology. Technology that helps empower patients and families with access to their own records, technology that uses artificial intelligence to provide diagnostic guidance from patient symptoms, social networks that crowdsource answers more effectively, and virtual care that assists with connecting patients with specialists faster. We were deliberate in electing to focus on real world pilot projects where these technologies are in productive use, so that the recommendations are practical and actionable. I encourage you to download and read the report, then join the movement as we change the lives of millions with rare disease. It will take all of us contributing our unique talents to make a better system.

Find out more about Microsoft in Healthcare.