10 Years of PhenoTips

10 years ago, PhenoTips was incorporated to support our one-of-a-kind software, transforming the research project “PhenoTips” into a powerful tool for clinical care. Today, on the day of our anniversary, we’re looking back over 10 milestones that shaped us into the company and complete Genomic Health Record we are today.

A professional headshot of Michael Berger, an adult white woman with dark brown hair, and a white shirt.

MICHAEL BERGER

Published on Jan 22, 2024

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A collage of images of PhenoTips throughout the years. This includes PhenoTips' booths at conferences, team photos, photos of the leadership team with a SickKids plaque and at the Creative Destruction Lab, and a photos of painted hands to create the Rare Disease Day logo.

On this day ten years ago, PhenoTips was founded to support the clinical potential of the one-of-a-kind “PhenoTips” software. As we look back over the years since its development from a research tool to a complete Genomic Health Record, we’re reminded that our past is what drives us toward the future.

"What I'm most proud of in the last 10 years of PhenoTips is that we've been one hundred percent dedicated to our founding principles of improving the diagnostic odyssey of patients with genetic conditions and rare diseases,” says PhenoTips CEO Dr. Pawel Buczkowicz. “In that time, we’ve evolved from an innovative idea to the Genomic Health Record of today, bringing genomic medicine to the forefront of cutting-edge research and everyday clinical care. The future is even more exciting. Genetics has the potential to improve healthcare for billions of people around the world, and PhenoTips is poised to lead the charge of AI-driven clinical genetics technologies into the next decade and beyond."

To honor PhenoTips’ 10th anniversary, we’re reviewing 10 major milestones, breakthroughs, and innovations that have shaped us into the company and Genomic Health Record we are today.

1. University of Toronto Computer Scientists and SickKids Geneticists Collaborate to Drive Rare Disease Research

PhenoTips’ story begins with a collaborative research project between geneticists from The Hospital for Sick Children (SickKids) and computer scientists from the University of Toronto working towards a singular goal to build a database of phenotypes, or a patient’s physical descriptions, linked to genotypes, or genetic characteristics. The team set to work combing a massive database of patient records, attempting to collect all phenotype-genotype relationships in a database of their own. While their database held incredible possibilities for improving diagnoses, especially for families with rare and undiagnosed diseases, the research team soon found their mission impeded by the nature of the patient records. Crucial patient information was over-complicated and nearly impossible to mine due to doctors using many different words for the same physical characteristics, missing, inconsistent, and ambiguous information, and the further headache of deciphering abbreviations and spelling mistakes.

2. PhenoTips Software is Created to Aid Life-Saving Genomic Research

The collective research team from the Department of Computer Science at the University of Toronto and The Hospital for Sick Children (SickKids) realized that to build their life-saving database of phenotype-genotype relationships, the challenge presented by unreadable patient records needed to be solved first. Luckily, a standardized, hierarchical, and machine-readable language to describe physical characteristics called the Human Phenotype Ontology (HPO) had recently been created. However, there was no practical way for clinicians to efficiently code patient records using the HPO without manually searching through over 10,000 detailed terms, so the team built one and named it “PhenoTips”.

Read the paper

3. PhenoTips Incorporates to Bring PhenoTips Software into Clinical Care

Having now created PhenoTips, the first software to make capturing the standardized and powerful Human Phenotype Ontology efficient and simple, the research team realized they had stumbled upon much more than they originally intended. Understanding the revolutionary power PhenoTips would have in a clinical setting, the team founded a company on January 22nd, 2014 to take ownership of the software and begin translating PhenoTips from a research project into a clinical tool. The company, now known as PhenoTips, ensured the project could grow beyond its host institutions and original purpose into a powerful clinical aid with enhanced security, stability, and the possibility of integration with other systems.

4. PhenoTips is Harnessed in Global Initiatives to End Rare Disease Diagnostic Odysseys

Four years after the initial creation of PhenoTips, the software’s global impact was becoming apparent. Researchers across the globe harnessed the software to improve their ability to assess large datasets, gain life-saving insights, and collaborate across disciplines and geographies. One area particularly impacted by PhenoTips was rare disease. By 2017, The National Institutes of Health’s (NIH) Undiagnosed Diseases Network (UDN) was harnessing PhenoTips to collect and analyze phenotypic information in their widespread efforts to improve the collaborative infrastructure and data-powered methods that drive diagnosis for individuals and families with rare and undiagnosed diseases.

Five years later, PhenoTips remains committed to driving the innovation and collaboration that ends diagnostic odysseys for rare diseases.

Read about the UDN's application of PhenoTips

5. PhenoTips Launches Rare Disease Platform Genomics4RD

In 2019, PhenoTips partnered with the Children’s Hospital of Eastern Ontario (CHEO) Research Institute’s Care4Rare initiative to launch Genomics4RD, a national research platform that relies on PhenoTips software as a backbone. Harnessing data that was previously scattered across different sites and datasets, the Genomics4RD database centralizes, standardizes, and draws insights from the data of over 4,000 Canadian families affected by rare diseases. By merging isolated datasets, the platform enables researchers to collectively identify the genetic causes of rare diseases as well as contribute new cases to decrease the time to diagnosis for families across Canada and worldwide.

To this day, Genomics4RD continues to be used by researchers to advance rare disease research and care, finding life-saving answers for families experiencing diagnostic odysseys.

Read more about Genomics4RD

6. PhenoTips Debuts an Enterprise Solution: The Complete Genomic Health Record

While already recognized as a powerful tool for research, PhenoTips had yet to reach its full clinical potential. Recognizing the value PhenoTips’ software would offer to clinicians as well as the role collecting powerful, standardized, clinical data plays in future research efforts, PhenoTips launched an enterprise solution. Designed to breathe efficiency into every aspect of a clinician’s workflow, PhenoTips’ enterprise solution was a complete Genomic Health Record with secure and streamlined workflows, seamless integrations into existing software systems such as EHRs, dedicated support, and the flexibility to continue adding improvements to come in the following years, such as patient questionnaires that automate pedigree charts and intake, and a pedigree-embedded cancer risk assessment tool.

Learn more about the complete Genomic Health Record

7. PhenoTips Graduates from Startup Accelerator the Creative Destruction Lab

Though its software had a large impact, PhenoTips was still a small startup now primed and ready for a period of accelerated growth. In 2020, PhenoTips was one of 21 companies to graduate from the Health stream of the University of Toronto’s Creative Destruction Lab out of over 2,000 total applicants. Over the 9-month duration of the startup accelerator program, PhenoTips debuted a new website, rebranded from the legacy name “Gene42” to become “PhenoTips”, the team nearly doubled in size, and the company released an accessible, web-hosted offering for small research teams.

Read the press release

8. PhenoTips Secures $2.5 Million in an Oversubscribed Seed Fundraising Round

To continue the company’s accelerated growth, PhenoTips closed CAD $2.5 million in an oversubscribed seed fundraising round led by GreenSky Ventures Accelerator Fund IV. With the support of prominent investors with deep expertise in digital health and enterprise software, the Toronto Innovation Acceleration Partners (TIAP), Thin Air Labs, Yorkville Partners, and angel investors including members of the GreenSky President’s Club, PhenoTips laid a foundation for company’s continued growth in the genomic healthcare market. In the coming years, PhenoTips would double in team size and expand its cloud-hosted software offerings into new markets and specialties.

Read the press release

9. PhenoTips Pledges 1% Equity to Support CORD, CHEO Foundation, and SickKids Foundation

To honor PhenoTips’ roots in rare disease research and give back to prominent institutions in the rare disease space who supported the company in its infancy, PhenoTips pledged 1% of the company’s equity to The Upside Foundation of Canada in support of the CHEO Foundation, SickKids Foundation, and the Canadian Organization for Rare Disorders (CORD). This donation reinforced the company’s core values by supporting the advancement of rare and genetic disorder research, in addition to supporting the researchers and clinicians who drive genomic medicine forward and expand its application and availability to improve diagnosis and care.

Read the press release

10. PhenoTips Partners with the NHS to Enable Population Scale Precision Medicine

In 2023, PhenoTips announced a partnership with the NHS East Genomic Medicine Service Alliance (GMSA). Throughout the East of England and East Midlands region, PhenoTips’ Genomic Health Record supports the East GMSA’s goals to embed genomic medicine and genomic testing into routine patient care by acting as a cloud-hosted, centralized database for genomic information, enabling access and collaboration between the region’s Trusts. This region-wide implementation marks a revolutionary milestone for the ways in which technology is harnessed for genomics with real-world implications for the actualization of precision medicine. PhenoTips continues to be implemented at Trusts across the UK, assisting the NHS in its mission to become the first national healthcare system to equitably embed precision medicine into patient care pathways.

Read the press release
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