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www.clinicalomics.com July/August 2017 Clinical OMICs 3 (continued on next page) News Solving Genetic Mysteries The DISCOVER Program Helps Diagnose and Treat Rare Diseases Diana Kwon, Contributing Editor S usannah Rosen, a three-year-old girl living in New York, has an extremely rare genetic disorder—a mutation in the gene KIF1A (Kinesin family member 1A), which causes a neurodegenerative disease. There are less than 30 children around the world diagnosed with this condition. The rarity of this disease means that it was difficult to get a diagno- sis. "From very early on, around birth I guess you could say, we were con- cerned because she wasn't meeting certain milestones," said Susannah's father, Luke, a 38-year-old playwright. But their daughter 's doctors were stumped—they could not identify her condition. So when a neurologist sug- gested whole exome sequencing, Luke and his wife, Sally, agreed. Months later, the Rosen family learned that Susannah had a KIF1A mutation. According to Luke, "when we found out that Susannah had a very specific mutation that nobody really knew about, we heard that the one person who would be able to give us a real understanding of the impli- cations of the mutation was Wendy Chung." Medical Detectives Wendy Chung, M.D., Ph.D., a medi- cal geneticist and the director of the clinical genetics program at Columbia University Medical Center, started the DISCOVER (Diagnosis Initiative: Seek- ing Care and Opportunities with Vision for Exploration and Research) program around three years ago to help patients with rare genetic disorders. Through this program, a team of various healthcare professionals work together to get a patient a diagnosis, provide treatment, and help coordi- nate care. A major part of this process involves analyzing a patient's genome in order to find the genetic underpin- ning of their disease. The core group at DISCOVER includes Dr. Chung, another medical geneticist, a counselor, a nurse practi- tioner, a genetic counselor, and a social worker. This group is also supported by a larger network of 50 medical spe- cialists who help assess patients and provide guidance on how best to treat and support them. When a patient first applies to the program, a team of experts vets the applications by combing through the individual's medical records and test results. "There are many undiagnosed cases out there, but genetics is not always the answer—we want it be, but it isn't always the case," said Ilana Chilton, the DISCOVER program's genetic counselor. "So when we accept patients, we want to make sure that we can help them." Approximately a third of the fam- ilies that come to DISCOVER even- tually receive a diagnosis. Yet even with the best tools, a diagnosis is not always possible. There are still cases in the program that remain unsolved, although it is clear that there is a genetic cause. For example, two such cases include twins with identical challenges, and three brothers pre- senting with the exact same issue. "I can't imagine [these cases] are not genetic, but we haven't figured it out yet," Dr. Chung said. To date, Dr. Chung and her team have identified around 34 new genetic diseases. In addition to identifying new conditions, the program also invests in research to further under- stand the disorders and develop new treatments. This often involves using CRISPR/Cas9 gene-editing technol- ogy to reproduce patients' mutations in mice, creating animal models to more closely explore and analyze these diseases. "There's a lot that we still need to learn about many of these conditions, so we don't stop with just getting a diagnosis," Dr. Chung said. The Rarest of the Rare Many of the patients who enter the DISCOVER program are one of only a handful of individuals in the world diagnosed with the disorder. In fact, some are an "n-of-1," the first iden- DISCOVER Dr. Wendy Chung with a young patient.