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Position paper, Brewer, Life Sciences Workshop

From: Judy Brewer <jbrewer@w3.org>
Date: Wed, 15 Sep 2004 23:33:33 -0400
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To: public-swls-ws@w3.org

Position Paper for Semantic Web for Life Sciences Workshop

An Application Use Case for Semantically-Supported Research in Rare Disorders
Judy Brewer

The diagnosis and treatment of rare disorders are difficult to address 
under current systems of medical research and health care. Conditions which 
are of low-incidence and/or which represent complex synthetic effects of 
multiple disorders can be difficult for clinicians to identify, due to 
unfamiliarity with specific symptom patterns and appropriate tests, as well 
as the challenge of remaining current with an ever-expanding body of 
literature in their fields. In some cases this unfamiliarity greatly 
prolongs the time required for diagnosis and delays application of 
effective treatments. In addition, the rate of development of new 
treatments for rare disorders still falls far short of the need, despite 
improvement due to legislation such as the United States' Orphan Drug Act, 
since the return on investments into research on treatments for rare 
disorders cannot match the return on new drugs and biological products for 
more common illnesses.

Delays and shortfalls in diagnosis and treatment of rare disorders could in 
part be addressed by more effective utilization of existing information on 
medical research and health care. In recent years the increased 
availability of health-related information on the Web has given additional 
impetus to the trend for self-directed research by people with rare 
disorders. One of the most well-known examples of self-directed research 
pre-dates the Web and was publicized by the film "Lorenzo's Oil," which 
shows one family's efforts to find a treatment for their son's 
adrenoleukodystrophy. As in this film, much of today's research on rare 
disorders is driven by non-medical experts, now using the Web heavily 
throughout their research and thereby covering far more ground more rapidly 
than could Lorenzo's family at the time. But the great majority of medical 
research data which could accelerate diagnosis and development of 
treatments for rare disorders is unavailable to those with the most direct 
need for this information, for a variety of reasons which could be 
addressed by semantic Web applications in the life sciences.

Factors which currently impede utilization of medical research data by 
non-medical experts include:
- access restrictions on medical research data that is already online, 
including data from publicly funded research;
- the lack of common data formats and ontologies enabling effective 
knowledge aggregation, searching across greatly expanded data sets, and 
generation of hypotheses around novel questions;
- the rudimentary nature of online expert systems designed for use by 
non-medical professionals.

To address these conditions it would be useful to partner with 
organizations which could help develop a variety of use-cases for medical 
research by non-medical experts, and further elaborate on the degree of 
transparency needed in medical research data and the types of online expert 
systems which could best facilitate use of this data by non-medical 
experts. It is likely that these improvements would facilitate utilization 
of medical research data by busy clinicians as well. This should help bring 
the auxiliary benefits of existing and future medical research data more 
immediately into practical application for people who otherwise might not 
enjoy the benefits of research into more common illnesses.


Judy Brewer    +1.617.258.9741    http://www.w3.org/WAI
Director, Web Accessibility Initiative (WAI), World Wide Web Consortium (W3C)
MIT/CSAIL Building 32-G530
32 Vassar Street
Cambridge, MA,  02139,  USA
Received on Thursday, 16 September 2004 03:35:13 UTC

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