Dr. Hui Zhang has done a lot of things in her life. For starters, she has a both an MD and a PhD, in addition to certifications in clinical and molecular genetics. She has worked as a physician scientist juggling the double responsibility of conducting research and seeing patients. Now, Zhang is a clinical geneticist at the Yale School of Medicine in the Department of Genetics, and most recently, she was named the Co-Director of the DNA Diagnostics Lab.
The DNA Diagnostics Lab at Yale is a clinical genetic testing facility focused on using next generation sequencing analysis to diagnose patients with a wide variety of phenotypes. “We analyze known genes to identify the specific genetic defects that explain a patient’s clinical findings,” says Zhang. Unique to the DNA Diagnostics Lab is that it’s part of a wider medical school system, and can thus provide scientists with valuable clinical data for research. According to Zhang, “Our clinical test analyzes known genes, and the data we generate can be used for research of unknown genes”.
Science has always been a big part of Zhang’s life. Both of her parents were scientists, so Zhang always felt comfortable in a laboratory setting. “We were in my parents’ lab all the time; weekends, nights,” she says, continuing, “so you grow accustomed to this sort of environment.” Zhang liked biology, so after graduating high school, she decided to go to medical school in her home country of China. However, Zhang wasn’t sure that she wanted to be “just” a doctor, so after medical school she decided to come to the US for her PhD to get that next level of scientific training. Zhang ended up in a molecular biology lab that looked for the genes responsible for different medical conditions. She credits that lab with starting her career as a geneticist, saying, “That’s what sort of piqued my interest in working on human genetics.”
“These days it’s a lot easier to find a gene,” she says. The larger challenge, according to Zhang, “is to figure out what a gene does and how a change in the gene causes disease”. As a clinical molecular geneticist, Zhang’s job is to look for genetic changes that might explain a patient’s symptoms. This may seem like searching for a needle in a haystack, but Zhang is confident in her abilities, saying, “my clinical expertise help me to have a better sense of whether the change in a gene makes sense for the patient’s phenotype.”
For now, Dr. Zhang’s biggest hope is that her work at the DNA Diagnostics Lab can help bring genetic testing to every patient who needs it. “I think genetic testing is a must. It should be an essential part of every undiagnosed case. To understand a condition is the first step to offer better care for a patient. To have a name for the condition a child has is to empower the family,” says Zhang.
I think genetic testing is a must. It should be an essential part of every undiagnosed case. To understand a condition is the first step to offer better care for a patient. To have a name for the condition a child has is to empower the family.
In the future, Zhang hopes that she can use her role as the co-director of the DNA Diagnostics Lab to help the lab serve as a hub for research collaborations with other departments at the School of Medicine. “We are the base for clinical genetic diagnosis in a large academic center. In the many cases where we don’t have a clear answer, we should provide an opportunity for researchers to further analyze different genes, or clarify the significance of uncertainvariants,” says Zhang.