Rare Reassurance

Every year, 50,000 infants are born in the United States with a different constellation of symptoms but a common, simple explanation: a genetic glitch. For some, doctors can make a diagnosis, such as Tay-Sachs, neural tube defect, or metabolic disorder. Even when the diagnosis is not accompanied by treatment options, health care professionals can offer insight to help families prepare for what’s to come.

Then there are the conditions so rare and so poorly understood that doctors have difficulty even making the diagnosis. For those families, clinical and molecular geneticist Wendy Chung, MD, PhD, assistant professor of pediatrics, recommends a comprehensive genomic analysis. 

“When we’ve exhausted the routine clinical diagnostics, we reach the edge of clinical care,” says Dr. Chung, who directs the clinical genetics program at Columbia University Medical Center. “Whole genome sequencing, with the purpose of being comprehensive, uses the most advanced genomic tools to answer a very relevant clinical question. We go into it without preconceived notions about the etiology and just go where the biology takes us.”

Deploying that mindset, Dr. Chung has been able to counsel both couples whose family history suggests rare genetic conditions and patients seeking the most appropriate treatment for a murky diagnosis. “It’s about personal prognosis,” she explains. “There could be 50 different forms of heart failure, for example. If yours is form C, which is associated with rapid progression of heart failure and arrhythmias, we need to be aware of the hazard of sudden cardiac arrest and prevent sudden death with medication or devices.”

The ability to toggle briskly between data gleaned from advanced sequencing technology and immediate clinical application has made Dr. Chung an ideal clinical research partner for the nonprofit Rare Genomics Institute. The all-volunteer charity connects patients who have rare, genetically based diseases to scientists investigating those conditions and helps cover the cost of comprehensive genomic analyses. 

“She understands not only the clinical genetics aspect, but also the next-generation sequencing technology,” says computational geneticist Jimmy Lin, MD, PhD, a research instructor at Washington University in St. Louis who recruited Dr. Chung soon after founding Rare Genomics. “At a clinic site we need a clinical geneticist willing to see the patient, researchers with capacity for whole-genome sequencing, and an existing protocol that patients can enroll in.” Dr. Chung, says Dr. Lin, embodies all three.

Perhaps even more important, he says, is Dr. Chung’s commitment to patient care, which has made Columbia unique among the 18 Rare Genomics patient sites. “Patients have been so grateful about the time Dr. Chung spends with them and how well she explains things,” says Dr. Lin, “and she fights for patients like no other.” Dr. Chung is committed to providing patients with clear information and championing insurance reimbursement. “I understand the value of a diagnosis for the patients and I understand how expensive it can be,” she says. “We make our patients a priority and partner with them.” 

— Sharon Tregaskis