Franklin’s Community Spotlight — Prof. Shubha Phadke

Franklin by Genoox
4 min readSep 6, 2022

As a little girl growing up in Nagpur, India, Prof. Shubha Phadke dreamed of being a pediatrician.

Many years later, on the same day she received an offer to fill a permanent position as a pediatrician, she also received an offer to enroll in a three-year program to become one of the first medical geneticists in the country.

It wasn’t an easy decision, but Prof. Phadke chose the latter, and never looked back.

“Back in the days when I grew up, everybody wanted to be a doctor or engineer, and I wanted to be both.” Prof. Phadke recalls.

Growing up in a middle-class Indian family, both girls and boys were given the freedom to choose their professional path, but “at that time there was nothing like medical genetics on the horizon. So naturally I didn’t think that I wanted to be a geneticist”.

The father of medical genetics in India

This all changed when she started to intern with the late Prof. Shyam Swarup Agarwal, who she refers to as the father of medical genetics in India.

“After Prof. Agarwal spent seven years of lab research in the US, he pushed the idea of teaching medical genetics at SGPGIMS (Sanjay Gandhi Postgraduate Institute of Medical Sciences), and that is why there are so many medical geneticists in India, including myself.”

Around the time of her career path decision, Prof. Phadke was finishing a year-long internship in research and clinical care services for thalassemia patients. “So we started establishing these hyper-transfusion therapies, trying to give them articulation and so on, keeping up with and raising awareness about good management and prenatal diagnosis…”

Prof. Phadke saw the potential of this new field in India and jumped head first.

Prof. Phadke’s goals for the field of clinical genetics in India

Prof. Phadke has over 30 years of experience in the field of clinical genetics and laboratory genetics. However, medical genetics in India looked very different in the early 90s than what it is today. Many new technologies and techniques that were used in other countries weren’t available (or even known) in the country. “…Gradually in that process, we had to establish genetic techniques and services. First, it was really hard to get chemicals for PCR testing, then we learned that the Sanger sequencing proves that PCR is not a very reliable test, so in a few years we got the Sanger sequencer, and so on…”

Her never-ending research and self-education from articles and publications, while going on trips to other, more advanced countries, opened up possibilities and dreams for what could be achieved. In the mid-90s, Prof. Shubha spent a few months interning at the University of Washington in Seattle, and a few weeks at a research lab in England. When she returned to India, Prof. Shubha brought back a vast amount of knowledge, experience, as well as clear goals for the field of genetics in India.

“Once you watch the procedure, you realize that it can be done. So gradually the gap narrowed between what we were reading in the journals and books and what we were actually doing.”

Over the past 30 years, Prof. Phadke has been a significant pillar in establishing this new specialty of medical genetics in India. She has published more than 280 publications, reported 10 new syndromes, and identified new novel genes in four of them. She wrote a book called “Genetics for Clinicians’’, which is taught in medical schools around the country. She is also the founding president of The Society of Indian Academy of Medical Genetics, and the founding editor of the “Genetics Clinics” publication.

Prof. Shubha’s greatest impact — training programs

With all that, Shubha’s greatest impact and pride is in establishing multiple training programs in the field of medical genetics in India. She ran the first Doctorate of Medicine in a medical genetics course in India in 1996, which has certified over 44 professionals since then. They are heading various medical genetics departments all over India. Additionally, she established a two-week program that introduces the world of genetics to doctors. In the past 16 years, more than 500 doctors participated in this program. “New students gradually grow and become assets. When they are in your department, you give them a lot of responsibilities and it is like working with ten brains and 20 hands. When they graduate, many go and lead their own departments, and you have your alumni spread this knowledge and tools all over India.” Many leading professionals in this field in India see her as a role model, and she has received many awards and recognitions, both nationally and internationally.

As for the future, Prof. Phadke is very optimistic:

“What has happened is beyond my expectations. In the 90s I did not think that all the techniques and technologies I saw in Seattle would be possible in India. And even if so, how long will it take? I thought that that gap of 30 years would remain, but I know that over the years the gap really decreased. India has developed so fast, especially in the last ten years, in so many aspects, like health, medical specialties, infrastructure, and more. Everything is fast improving, and so is medical genetics”.



Franklin by Genoox

The world’s largest, most diverse real-world genetic evidence database. We believe that community data-sharing is the future of genomics