Sharon F. Terry

Sharon Terry, president and CEO of the Genetic Alliance, describes a conference she attended at the Shandong Academy of Medical Science.

GEN’s China Dispatches are issued by Sharon F. Terry, president and CEO of the Genetic Alliance, a network of more than 10,000 organizations, including 1,200 disease-advocacy organizations, that enables individuals, families, and communities to reclaim their health and become full participants in translational research and services. A pioneer of consumer participation in genetics research, services, and policy, Sharon F. Terry serves a leadership role not only at the Genetic Alliance, but also at the Genetic Alliance Registry and Biobank and at PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE). Here, during a trip to Shandong Province, she describes a visit to the Shandong Academy of Medical Science.

Early in the morning, even before the sunrise birds began their song, the staccato shouts and grunts of the army training here at this Communist party compound break the silence. They punctuated my early morning work, communicating with the Genetic Alliance and PXE International staff as they ended their day, with the reminder that the work we do requires discipline, and that we also have great cultural differences to navigate.

The Shandong Academy of Medical Science is a powerhouse of activity on genetic and rare diseases. Their auditorium was filled with eager attendees for the talks that Jouni and I would give. These students, researchers, and clinicians are very excited, since they have formed Genetic Alliance China. As a result of this bold commitment to empower patients and catapult rare disease research there is a great deal of enthusiasm for learning, and so the auditorium was filled. Jouni gave a terrific and energetic description of his work on pseudoxanthoma elasticum (PXE) and other ectopic mineralization diseases. There were many questions about using PXE as a model for other conditions, and the implications of his work in mineralization. With the help of Jie, we went back forth between Mandarin and English quite easily. Our host, Jinxiang Han, was clearly delighted that Jouni’s work is paving the way to defining many of the pathways in mineralization.

I described epidemiology for rare diseases, including biobanks and patient networks. This is an interesting area in China, since of course some of the world’s most agile social network tools are not available to them. Facebook and Twitter aren’t vehicles they can use; however, they do have some Chinese equivalents which are gaining traction. The team at Genetic Alliance China is very interested in developing structures similar to those embodied in the Genetic Alliance Registry and BioBank ( They asked terrific questions about authentic engagement of patients and the pathways to creating trust environments that will help them build the research platforms needed to serve individuals with rare diseases. This led to a productive dialogue that lasted through our long and tasty lunch. I described the importance of engaging individuals early on, giving them a voice and inviting them to co-create the biobank. I also emphasized the importance of providing individuals enough information to make informed decisions. One young woman in the audience said she believed that Chinese people would be less engaged than Americans. They are worried that they will not get the engagement they desire. I admire their desire to not just collect samples without engagement.

Shandong has initiated a project to collect the past 10 years of data from 100 hospitals that together serve more than 300 million people. Yazhou Cui, an intense and dedicated clinician there, described a government mandate that these hospitals search for individuals related to 30 rare disease ICD-9 codes and share that data with him. One of Yazhou’s goals is to determine an evidence-based definition for rare diseases and to determine prevalence based on data. I related a conversation I had with a prominent geneticist about 15 years ago. When we asked him, “How did you determine that PXE affects one in 100,000 people?”, and he smiled and said, “I guessed!” Ah, evidence-based prevalence and incidence, what a concept! China is the place to try this—large numbers of people will make this much easier. We exchanged email addresses, and planned to share infrastructure as much as possible. No need to reinvent the wheel. The other benefit I described is the ability to avoid the mistakes we made along the way. Lessons learned in the west may help the east.

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