How do you make the case for fast, accurate diagnosis of rare diseases? Working as part of the Global Genes Corporate Alliance, SmithSolve announced results of a survey exploring the knowledge and attitudes of specialists, generalists, patients and caregivers toward rare diseases. Key influencers, including the FDA, learned of the survey data published in the Journal of Rare Disorders, setting the stage for ongoing physician education and referral programs.


Diagnosing and treating rare diseases is complex and challenging, given the vast number and variations of the more than 7,000 known rare diseases. As the first step in addressing the situation, the Global Genes Corporate Alliance, of which SmithSolve is an active member, fielded a survey to identify knowledge gaps and attitudes of both healthcare professionals and the patient community about rare disease diagnosis. SmithSolve was tasked with communicating the survey results to raise awareness of the current challenges in rare disease diagnosis and provide a blueprint for future education



SmithSolve conducted outreach to target medical trade reporters to leverage the survey results. Through media materials, SmithSolve illustrated key survey findings and shared them in coordination with Rare Disease Day to quantify the need for physician education. The insights gained from the survey are intended to help guide the development of future referral programs, protocols and physician tools.

  • Developed materials to communicate and visualize the survey results, including a news release and infographic
  • Conducted targeted media outreach to medical trades to highlight survey findings and the work underway to find a viable solution to faster and more accurate diagnosis of rare diseases


  • Generated 9+ million media audience
  • Secured 190+ outlets that reported on the survey results, including The Boston Globe, Medical News Today, The Star Tribune and Yahoo! Finance
  • Secured recognition from FDA’s Center for Drug Evaluation and Research, with Dr. Anne Pariser citing the survey findings as rationale for additional physician education

“We hope these survey results spark the development of robust physician education and referral programs in rare diseases.”

Nicole Boice
Global Genes