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2023: A Year In Review

2023 has been an exciting year for PhenoTips. We’ve upgraded our Genomic Health Record, expanded into new specialties and cities, helped pilot milestone regional transformation projects, hosted life-changing events, and much more. In this blog post, we reflect on the past year and offer a sneak peek of what’s to come in 2024.

Michael Berger
Michael Berger
A grid of images surrounds text that reads '2023: A Year in Review.' From left to right the grid shows the PhenoTips logo, a connection icon, a globe icon dotted with location markers, a team photo of the PhenoTips team at the 2023 holiday party, a group photo of the participating professionals and families at the first Undiagnosed Hackathon, an image of a computer and phone both open to a Inherited Cardiovascular Conditions Pre-Visit Patient Questionnaire, and a professional headshot of PhenoTips' new CEO Dr. Pawel Buczkowicz.
As each year ends, we are offered an opportunity to reflect on the growth we’ve experienced as a team, as a company, and as a complete Genomic Health Record. For PhenoTips, 2023 has been a year of incredible growth as we continue to develop our software, grow our team, and expand our services into new cities and across regions.

PhenoTips in Action

This year we saw our software harnessed like never before. PhenoTips expanded into new institutions, supporting over 6,000 users. This expansion means that to date PhenoTips’ Genomic Health Record supports clinicians and researchers in over 60 countries around the world, with clinical and research instances in Canada, the USA, the UK, the Netherlands, and Hong Kong.

One landmark expansion in 2023 was the adoption of PhenoTips’ Genomic Health Record by the NHS’ East Genomic Medicine Service Alliance’s (GMSA) milestone regional transformation project. Across the large region serviced by the East GMSA, PhenoTips will support the Alliance’s goals by acting as a cloud-hosted, centralized database for genomic information, enabling access and collaboration between the regions' Trusts, streamlining genetic test ordering, automating pedigrees, storing and maintaining analysis reports and laboratory data, and much more.

“This is an exciting opportunity to begin expanding the accessibility of a single instance of PhenoTips to the entire East GMSA region. This expansion has the power to promote clinical collaboration between East GMSA Trusts while improving information governance, removing the need for duplicate work and the resulting copying errors, and enabling continuous care of patients even when they move between Trusts and specialties.” - PhenoTips’ Chief Executive Officer, Dr. Pawel Buczkowicz.

PhenoTips is proud to support the NHS, the first nationwide healthcare system committed to embedding genomic medicine into patient care pathways, as the NHS’ mission closely mirrors our mission to empower clinicians to provide life-saving, personalized care. Currently, PhenoTips supports genomic medicine workflows at over 8 NHS Trusts across the UK, with the potential to expand into additional Genomic Medicine Service Alliances to support and centralize genomic medicine and testing across England.

Continued Evolution of the Genomic Health Record

At PhenoTips, we’re committed to continually enhancing our Genomic Health Record to meet the evolving needs of genomic researchers and healthcare professionals. In this past year alone we launched over a dozen expansions to our software’s capabilities. These included expanding the capabilities of our patient record, improving database searchability, enhancements to our Cancer Risk Assessment tool and family record, and the release of two new specialty-specific Pre-visit Patient Questionnaires.

Patient Record Expansions

Our patient records, linked to family records, provide an overview of each patient’s genomic health information. In 2023 we expanded our patient records to include an address field, the ability to capture detailed ethnicity information, and a brand new metabolic findings section. In addition, the patient record now contains a built-in system for tracking patient visits, where clinical notes, tagged by date and author, are stored within a patient’s record for each appointment they attend.

A new “tag” functionality was also added to patient records, giving users a pre-defined list of attributes - determined by the institution's needs - to select from. This expansion has a variety of potential benefits, including flagging levels of consent, indicating a patient’s follow-up status, and grouping patients by category.

Database Searchability Improvement

PhenoTips’ Genomic Health Record is, at its core, a database management system of patient records linked to family records, making it a powerful asset when searching for patients or families based on structured, machine-readable features such as diagnosis or phenotype. In 2023 we improved the Genomic Health Record’s searchability, now allowing users to search and filter patients by copy number variant fields.

Cancer Risk Assessment Tool Enhancement

Our Cancer Risk Assessment tool is built into pedigrees, enabling users to streamline risk assessment into one click by automatically populating multiple risk models with information already available in the pedigree chart. To improve user experience and further this streamlining, we have added additional colour-coding to the success and failure messages.

Family Record and Pedigree Upgrade

Unlike an Electronic Health Record, our Genomic Health Record understands the concept of a family, therefore each patient’s pedigree is contained within a family record that is linked to each family member’s patient record. This year we have upgraded both our pedigree maker and our family record. Pedigrees can now be exported in CanRisk formats, in addition to the existing export options that include PDF, PED, and Phenopackets formats. Family records are now enhanced to include attachments, such as PDF and image files.

Speciality-Specific Pre-Visit Patient Questionnaires

PhenoTips’ Pre-Visit Patient Questionnaire is a digital patient-intake survey that works with our complete Genomic Health Record to automatically generate a pedigree chart, as well as create and populate a patient record, based on patient-entered information. You may have already heard of the addition to our Pre-Visit Patient Questionnaire that captures information specific to Inherited Cardiovascular Conditions, but what you may have missed was another exciting addition that captures cancer-specific personal and family health information.

PhenoTips Co-Hosted the First Undiagnosed Hackathon for Rare Disease Diagnosis

Ending the diagnostic odyssey for individuals and families with rare diseases is central to PhenoTips’ mission. The struggle to reach diagnosis faced by 60% of patients with suspected genetic causes was an inciting factor in the creation of a Genomic Health Record that makes genomic and phenotypic health information structured and machine-readable. To honour our origins and continue our work towards improving rare disease diagnosis, PhenoTips hosted the first Undiagnosed Hackathon along with the Karolinska Institute, the Wilhelm Foundation, and the Undiagnosed Diseases Network International.

The first Undiagnosed Hackathon, hosted in June 2023, brought together nearly 100 multidisciplinary professionals from 6 continents and over 20 countries. In mixed specialty teams of bioinformaticians, molecular biologists, scientists, and developers, the attendees worked together to solve the unsolved cases of 12 families with undiagnosed genetic conditions. This group effort resulted in new diagnoses for four participating families and continued efforts toward diagnosing the remaining unsolved cases.

A Growing Team

As our Genomic Health Record software continues to grow and evolve, so does our team. This year we welcomed two new team members in first-of-their-role positions.

Camillo Tulio joined the team as our first DevOps Manager, combining his background in computer programming and his deep interest in biology to uncover new ways to automate workflows, improve deployment, and harness new technologies. He now works to improve existing processes and bolster the efficiency of our team of skilled engineers.

Krista Pace joined the team as our first Head of Product. With previous experience working on PhenoTips in its infancy alongside senior PhenoTips leadership, Dr. Michael Brudno and Dr. Orion Buske, Krista is returning to a nearly unrecognizable Genomic Health Record with a newfound love for product and strategy.

In addition to gaining valued new team members, we experienced a shift in our leadership team. Dr. Pawel Buczkowicz, formerly the Chief Operating Officer and Vice President of Scientific and Medical Affairs, was appointed Chief Executive Officer of PhenoTips. As the first employee and core founding member of the company, Pawel brings over 16 relevant years of experience to the position and has played an instrumental role in the company’s growth and successes to date. PhenoTips’ former CEO Dr. Orion Buske will return to PhenoTips in a senior leadership position in 2024.

What to Expect in 2024

Our team is already hard at work developing exciting new features and updates to our Genomic Health Record. Early next year, PhenoTips users can expect an update to their instance which will allow users to export a patient’s record in an editable text format, such as a Word document. The patient record will also expand to include a neurology and skeletal time-series data table, focused on capturing longitudinal data around neurological and skeletal disorders.

Later in 2024, users can expect an update that will improve performance when querying or filtering across large databases of patient and family records. In addition, PhenoTips will debut a new, modern user interface that reflects the modernity of our software’s functionality

We look forward to connecting with you in the new year and showcasing even more updates and improvements. But for now, we wish you a safe, warm, and comfortable holiday season and a joyous New Year celebration.
Michael Berger
Michael Berger

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