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Patient Archive to Augment Human Work

Updated: Dec 14, 2023

A Technology That Augments Human Work Rather than Replaces It

by Georgia Hay and Florian Klonek

Technology all too often is designed to replace humans. But the best technology is that which actually helps humans to do their work better.

The Patient Archive is a great example of such technology.[1] It is used within the Western Australian Undiagnosed Diseases Program (UDP-WA) Expert Panel Meetings to help diagnose rare diseases – or to “solve the unsolvable”.

Patient Archive is a knowledge management platform that clinicians are encouraged to use to document patient-related information. Before the UDP-WA and Patient Archive was in place, clinicians had to go through literally hundreds of patient documents. In many cases, two clinicians treating the same patient would not even have access to the same patient-related information.

The new knowledge management platform collects this patient-related information from each clinician and everyone has instant access to it. As Gareth noted: “The information is all in one place” and “it can be accessed from secure computer in the WA health system”. Gareth also mentions that it makes the collection of clinical information about a child more efficient because information does not have to be duplicated.

The system also allows the team to compare phenotype descriptions with other rare cases worldwide. This looks for “the next case of”, that is it finds similar undiagnosed patients internationally, so together answers can then be found.

Importantly, Patient Archive does not just store this information – it organises and analyses it using sophisticated algorithms, significantly advancing  clinical practice and research in genetics, including the diagnosis of rare diseases. Since the Patient Archive is fed with text-based information, the internal algorithm organises the symptom descriptions and compares them with described criteria for thousands of documented diseases and provide the expert panel with suggestions.


Gareth’s perspective on how the technological change affects his work is very positive. He considers Patient Archive “as another part of the team – one that is free from cognitive bias

is positive perspective is grounded in the way that technology has been implemented in the UDP. Since Patient Archive is only considered by Gareth as “one opinion out of many”, it does not enslave the clinicians to strictly follow its recommendations.

As a geneticist, Gareth has heard many times that technology will “take over the world” but he has never seen those predictions fulfilled. In contrast, his personal prediction is that “demand for, and the demands, of clinical geneticists will always increase” and that the increased use technology has rather caused the “rebirth of the generalist”. He added, “genes do not care what you trained in [they can affect many parts of the body] and patients probably care even less”).

Taken together, the Patient Archive is a good example of how technology can reduce cognitive demands of knowledge-intensive work and also how it enables (instead of enslaves) team coordination processes, supporting optimal delivery of patient care.



[1] The Patient Archive ( was developed by the Phenomics Team at the Kinghorn Center of Clinical Genomics, Garvan Institute of Medical Research in collaboration with the Monarch Initiative, Genetic Services Western Australia and the Office of Population Health Genomics, Dept. of Health, Government of Western Australia.

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