Citizen Scientist to Foundation Leader: How Diagnostics, Drug Discovery, and Patient Research are Changing

In the 1990s, the Human Genome Project was still in its early years and basic questions, such as how many genes are contained in the human genome, were still unanswered [1]. The sequencing technologies used were relatively low-throughput, unlike today’s next-generation sequencing platforms that can sequence the human genome in days in a single lab, rather than the 15 years and countless scientists at more than 20 sequencing centers around the world required for the Human Genome Project [2]. With the Human Genome Project came tremendous optimism about the future of biology and medicine and the underlying idea behind Personalized Medicine: being able to use a diagnostic test, based on genetic, genomic, and/or other data, for diagnosis, prognosis, treatment response, or underlying disease susceptibility [3].

Today, diagnostic testing is routine for many cancers and other diseases and some hospitals are starting to use genetic information to predict how patients will respond to medications, such as the blood thinner clopidogrel. Healthcare is in the midst of a “Data Deluge” and technological revolution. But healthcare technology isn’t always as user-friendly as our smartphones, and often can’t do the things doctors would like. And despite growing enthusiasm for increased patient engagement, like we are seeing through the growth of consumer-facing digital health apps and wearable devices, putting patients at the center of healthcare remains a challenge. No one knows this better than Sharon Terry, founder of PXE International, and President and CEO of Genetic Alliance.

In December 1994, the Terry family received news that their two children both had pseudoxanthoma elasticum (PXE), a rare disease with dermatological and vision problems. In a gripping article published in Health Affairs, Sharon details how she and her husband, laypeople with no medical training, started PXE International, a foundation that brought together patients with PXE, the doctors treating them, and researchers studying the disease [4]. The foundation supports a blood and tissue bank, making the samples needed for research available to scientists and actively works to increase data sharing between researchers.

In episode 7 of the MoneyBall Medicine podcast, I talk with Sharon Terry about how the data and technology revolution is changing patient engagement in healthcare, from the work that the Genetic Alliance does to the NIH’s All of Us genetic sequencing program to Patient-Centered Outcomes Research Institute (PCORI)’s PCORNET projects. We discuss where Big Data has been successful and its current limitations and the role of tech companies like Apple and Amazon in healthcare. Join me for this episode of the MoneyBall Medicinepodcast!


  1. National Human Genome Research Institute. 2012 An Overview of the Human Genome Project.
  2. What a long, strange trip it’s been…. Nature 409 p.756
  3. Redekop, W. K. and Mladsi, D. 2013. The faces of personalized medicine: a framework for understanding its meaning and scope. Value Health 16 (6 Suppl):S4-9.
  4. Terry, S. F. 2003. Learning Genetics. Health Aff (Millwood) 22 (5):166-71