Sharon F. Terry

Sharon Terry, president and CEO of the Genetic Alliance, pays a visit to the NICU at Qilu Children’s Hospital.

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). In her previous dispatch, she wrote about a conference she attended at the Shandong Academy of Medical Science; today, she describes a visit to Qilu Children’s Hospital.

Tiny, fragile babies draw some of us to the windows of the NICU at Qilu Children’s Hospital of Shandong University. Some of find it too difficult to see so many sick babies. This hospital has 85 babies in the NICU right now. It appears they have capacity for many more—the rooms are large, very clean, and well lit. Parents sit in the halls, on the floor, on yoga mats near piles of belongings that suggest they may stay here for some of the 30 to 90 days the babies spend getting ready to face the world. Many are premature—500 grams, says the nurse, but they will make it. Some won’t, struggling with encephalitis and other major infections.

We’ve come here to meet with the hospital administration, to speak about noninvasive prenatal testing, preimplantation diagnosis, newborn screening, and whole-genome screening. The clinicians, researchers, and students that are assembled are very interested in the talks that Jouni and Pat give.

Jouni describes his work in dystrophic epidemolysis bullosa and the ability to tailor treatment through genetic testing. Knowing which of the now 18 genes implicated in the spectrum of disorders resulting in skin fragility disorders, and eventually what kind of mutation, enables personalized medicine for these babies and children. Increasingly, advances in molecular medicine are applied in now routine ways, thus giving clinicians the tools they need to counsel families about diagnosis and treatment. In the early years, when Jouni believed that knowing the gene and the mutation was critical, he had to do all of the testing at Jefferson. Now GeneDx of Gaithersburg, MD, does the testing as a service, and Jouni can concentrate his resources on delving deeper into the pathophysiology and quest for a treatment. The Children’s Hospital is still doing molecular diagnosis onsite, since there is no commercial testing service available to them.

Pat tells the story of creating PXE International (, establishing the registry and biobank (, discovering the gene, creating the diagnostic test, and moving into clinical trials for pseudoxanthoma elasticum. He piques the interest of the audience as he describes the decreasing cost of sequencing, the applications in cancer, and the potential of large panels and/or targeted screening to diagnose many disorders. A tumble of questions follow, a rapid-fire query into the costs of such testing. It appears that this, too, is out of the reach of this children’s hospital at this time.

I ask about newborn screening. Genetic Alliance created and manages the nation’s newborn screening clearinghouse, called Baby’s First Test ( I give a general overview of the state of newborn screening in the U.S. It is probably the most successful public health program on the planet: 98% of babies born in the U.S. are screened for between 29 and 64 conditions, in all 50 states and the territories. The hospital began screening in 2011, and screens urine for only three diseases. They hope to begin amino acid screening sometime in the next few years. Beijing Children’s Hospital screens for phenylketonuria, congenital hypothyroidism, congenital heart disease, and deafness. There appears to be a great opportunity for inexpensive genetic testing in China. The U.S. diagnoses approximately 10,000 children a year with treatable disorders at birth, thereby mitigating a great deal of suffering. In China, they estimate that deafness alone affects more than 60,000 newborns.

As we leave the hospital, a little boy follows our progress with interest. We are the only Westerners around, as far as I can tell. Just as the hospital door closes, his face lights up, and, as though he has recognized us, he waves and beams a great smile to us. Returning his greeting, I silently wish him good health.

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