Pankhuri Gupta, left, and Dr. Andrew Stergachis: 'What began as a capstone project during her genetic counseling training has grown into a meaningful initiative with real impact for patients.' [Photo courtesy Andrew Stergachis]
"Pankhuri has stood out as a leader since she first rotated with our team as a genetic counselor trainee… What began as a capstone project during her genetic counseling training has grown into a meaningful initiative with real impact for patients.”
Those observations about Pankhuri Gupta may be more insightful that BBI’s Andrew Stergachis, M.D., Ph.D. intended. Consider:
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“Stood out as leader” – Gupta knew before she graduated from high school in Delhi, India that she was interested in a profession where she was able to serve others, values instilled in her by her maternal grandfather.
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“Meaningful initiative with real impact for patients” – Gupta is determined to use the insights gained from her research to change the current clinical structure for communicating with patients about the uncertainty of genetic variants.
“For many patients, genetic testing results can be confusing,” she said. “In addition, patients often are unaware that they could receive a reclassification of their variant. The responsibilities of the labs, the clinicians, and other stakeholders for communicating this information are not straight forward, and unfortunately we find that this results in everyone operating at a loss.”
Gupta’s collaboration with Stergachis and others at BBI led a paper, “Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications,” published last September in the journal Genetics in Medicine. That paper, in turn, led to her being named last month the 2026 recipient of the Richard King Trainee Award by the American College of Medical Genetics and Genomics (ACMG).
“The conclusions from our paper are striking,” she said. “Patients have outdated results in their electronic health records regarding the classification of their genetic variants, even when updated information is readily publicly available. The number should be negligible. This is a wakeup call for the community.”
Gupta, 27, has established herself as a rising leader within the genomics community. In addition to this national award from ACMG, she was also previously selected as one of ten genetic counselor fellows nationwide to receive the Career Ladder Education Program for Genetic Counseling through the Warren Alpert Foundation, which supported her prior research using long-read sequencing under BBI's Danny Miller, M.D., Ph.D.
But this journey did not begin at a classroom at the University of Washington; it started in a home in Delhi.
“My parents would get me these encyclopedias, but the only one I was interested in was entitled ‘human biology,’” she said. “I come from a traditional Indian household.”
Many people in India interested in biology end up going to medical school, she said, but her older brother encouraged her to explore other possibilities, and “not go down an obvious path.” Gupta left India at age 18 for the University of Minnesota for four important reasons: a “phenomenal” biology program, her brother did an internship there, she received a four-year scholarship, and her parents had friends living near the Twin Cities.
Shortly after arriving at the U of M in September of 2016, Gupta started working in a virology lab. It was not a good fit.
“I did not enjoy the wet lab at all,” she said. “I was no good at it. It was not intuitive to me. But, it also helped me get a basic grasp of science and research and genetics.”
In addition, between May of 2019 and October of 2020, Gupta worked as an undergraduate researcher at the lab of U of M professor Brian Van Ness. He encouraged her to explore the profession of genetic counseling.
“He became a mentor to me,”: she said. “And he encouraged me to shadow genetic counselors. I really liked their in-depth interactions with patients, rather than the quick encounters many of the physicians I had shadowed had with their patients.”
She completed a Bachelor of Science degree in General Biology in May of 2020 and later interviewed at several graduate schools. Why did she choose the University of Washington?
“At the UW, I felt my personality aligned with the genetics program,” Gupta said. “I was on a Zoom call with other prospective students, and, of course, all of us were really nervous. The director, knowing this, put all of us at ease by asking everyone – there were about 20 of us – to meditate for five minutes. We closed our eyes and grounded ourselves. I realized that this would be a place where I would be OK.”
“OK” is an understatement.
Gupta immersed herself in the genetic counseling program, beginning in September of 2022, and currently serves on the Advisory Board of the UW’s Genetic Counseling Graduate Program. As part of her training, did her Capstone project with the Stergachis lab, which was the start of the project that culminated in the paper recognized by the King award. At the same time, she did the genetic counseling fellowship with Miller.
“Drawing on her clinical training, she quickly recognized an important gap in how variant reclassifications were being communicated back to patients,” Stergachis said. “She helped lead efforts to ensure that patients could receive these updated results, including working with our team to amend our IRB-approved protocol, so that reclassification information could be returned in a systematic and responsible way. It has been incredibly rewarding to see this work evolve and to collaborate with Pankhuri and the broader team to move it forward.”
Moving forward 10 years, what does Gupta think she will be doing in 2036?
“I want to empower our patients,” she said. “I want to be leading the charge in changing that.”
