Do you know - PhenoTips

On Rare Disease Day, learn more about PhenoTips, their mission to digitize medical genetics and their solutions in Rare Disease, Cancer Genetics and Health Systems.

Imagine walking into your doctor’s office and they have your detailed medical and family history in front of them, and from that they’re able to predict your risk for countless diseases both common and rare. 

No need to imagine this. It’s happening right now, with PhenoTips

PhenoTips is digitizing medical genetics. This software was born out of a research project at SickKids hospital and the University of Toronto. 

"The PhenoTips team is passionate about streamlining clinical workflows in order to improve the healthcare experience for both patient and doctor" --- Dr. Pawel Buczkowicz, CEO

CEO Dr. Pawel Buczkowicz says, “the PhenoTips team is passionate about streamlining clinical workflows in order to improve the healthcare experience for both patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced.”

The PhenoTips platform offers several solutions and products in the genetics space that can all be integrated into electronic medical records systems. Things like:

  • A rare disease solution that streamlines diagnosis and patient care 
  • A one-click cancer risk assessment 
  • A comprehensive patient record platform that tracks the inheritance of a trait or a health condition through generations of a family, easily transferred between specialists 

“Ultimately, our goal is to provide the best Genomic Health Record we can in order to empower clinicians to provide their patients with precise, personalized care in genetics, breaking down data silos along the way,” explains Dr. Buczkowicz, “unlocking the full future potential of genomic medicine with AI-driven software that works at population scale.”

PhenoTips has been adopted by over 25 of the biggest hospitals in the world, including the Hong Kong Genomics Project, Oxford Health and Cambridge University Hospital that are a part of the National Health Service in the UK, the National Institutes of Health and the Undiagnosed Disease Network in the United States, as well as Canadian institutions in Ontario, Quebec, Alberta, and Nova Scotia.

It’s this kind of adoption investor, James Lochrie, Managing Partner of Thin Air Labs expected to see. 

"Given the use of genetic information in medical decisions is still in its infancy, we see this as an amazing growth opportunity for PhenoTips and something that will have a dramatic impact on individual health outcomes around the world." --- James Lochrie, Managing Partner, Thin Air Labs

“When we think about the future of healthcare, the trend is to use personalized health data to focus on the prevention of disease rather than treatment once disease is present,” says Lochrie. “Pawel and his team have created a platform that does just that using genetics, which we believe will become increasingly more important as this trend toward personalized, preventative medicine accelerates. Given the use of genetic information in medical decisions is still in its infancy, we see this as an amazing growth opportunity for PhenoTips and something that will have a dramatic impact on individual health outcomes around the world.”

And this is just the beginning. The PhenoTips team sees a world where not only is there precision medicine for individual patients…. but for populations. Imagine entire cities or regions being able to plan ahead for an expected influx of a certain disease, a required number of specialized physicians or an outbreak of a particular pandemic. 

But again, there’s no need to imagine these scenarios. PhenoTips is already working on them. As they celebrate their 10th anniversary, they’re ensuring the future of medicine means better workflows and systems for health care professionals, improved patient outcomes and a healthier world for all of us. 


To hear more from PhenoTips CEO Dr. Pawel Buczkowicz watch this video.

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