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Case Study: Pedigree Software Revolutionizes Medical Genetics Department

PhenoTips improved the efficiency and enhanced the quality of patient care provided by the medical genetics staff at Addenbrooke’s Hospital, by bringing pedigree drawing and data capture into the modern age of medicine.

Michael Berger
Michael Berger
A picture of Addenbrooke’s Hospital as seen from the window of a tall building nearby. The sky is blue and clear with a few wispy clouds, and a green field speckled with cloud shadows is visible behind the white hospital building and full parking lot.


Addenbrooke's in Cambridge, UK, is an internationally recognized teaching hospital and centre for medical excellence. The hospital serves a local population, as well as providing specialist services in cancer, paediatrics, genetics, rare diseases, and more. Attending staff Dr. Marc Tischkowitz, and the medical genetics department he works in, serve a population of 3 million.


As a regional hub for specialty services, Addenbrooke’s must maintain modern, up-to-date facilities. Recognizing the importance of becoming paperless to this mission, Addenbrooke’s made the switch to electronic health records (EHR), but this was not enough for all departments to ditch paper. Dr. Marc Tischkowitz and the medical genetics department still drew family trees by hand.

“The problem with using paper and pen is that often the pedigrees get too big, they get scrunched up, they’re illegible, they change over time,” says Dr. Tischkowitz.

This illegibility makes reviewing a patient's pedigree difficult guesswork, even for the original clinician. Interpreting a pedigree becomes even more complex when new clinicians review and consult on the patient’s family history. Making sense of the messy scrawls may involve meetings with the original care provider, additional patient consultations, and redrawing it from scratch. All of which becomes a strain on valuable clinical time, hospital resources, and patient experience.


PhenoTips offered a unique solution for Addenbrookes, one that had benefits for more than just the medical genetics department. In addition to providing a powerfully simple pedigree-drawing tool, PhenoTips’ phenotyping capabilities made data capturing, document storage, and diagnoses easier for the oncology and dysmorphology departments.

“We like that it can be tailored to our uses and needs,” says Dr. Tischkowitz on the cross-department functionality, “we like the personal connections, and we like the general enthusiasm behind the program.”

For medical genetics, the choice was simple: PhenoTips’ pedigree-software just worked.

“There’s a lot of different pedigree drawing programs out there,” says Dr. Tischkowitz, “I’ve tried many of them, and most of them I’ve found clunky or not very useful, and with PhenoTips I’ve never had any problems. It just works, that’s what you want, you don’t want to think about the IT behind it, you just want something that works.”

Impressed with both the ease with which any staff member, regardless of IT experience, could pick up the software, as well as the dedication of the team behind it, Addenbrooke’s began using PhenoTips in 2014.


“This was an incredible change for us. It revolutionized how we work in our department and made us much more efficient,” Dr. Tischkowitz reflects.

Highly efficient care wasn’t the only thing patients gained when Addenbrook’s went paperless with PhenoTips. Clinicians and genetic counsellors incorporated PhenoTips into clinical visits, bringing family history to life for patients by drawing pedigrees on the screen in front of them. It doesn’t hurt that the software looks good too, Dr. Tischkowitz notes.

“The visuality of PhenoTips is actually something that’s very pleasant, it looks good, even compared to other pedigree drawing programs, and it’s just so easy to use, the user interface is really the key thing.”

Dr. Tischkowitz doesn’t regret Addenbrooke’s decision to go with a smaller company. In fact, he sees the small team as an asset because they are extremely responsive.

“That’s unusual,” he states. “If you’re working with bigger companies, when you give some feedback you’ll never hear anything, whereas here there’s a lot of response.”

For Dr. Tischkowitz and the team at Addenbrooke’s, it's the practicality of PhenoTips’ solution combined with superior service that has really made an impact. Efficient, enhanced patient care has ensured the hospital remains an internationally renowned, state of the art medical facility.

Michael Berger
Michael Berger