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UNIVERSAL
DIAGNOSTIC
SYSTEM
Abstract
The role of genetics in medicine is growing. An increasing number of diseases are being linked
to genetic factors. However genetic analysis is still an arcane and difficult process, requiring vast
amounts of specialized knowledge that keeps this increasingly important diagnostic tool out of
the reach of many.
A single genome contains vast amounts of data. Modern genetic analysis techniques read only a
few hundred base pairs at a time (the human genome consists of around 3 billion base pairs).
These base pairs are read by comparing them to existing databases of genes, but a lack of sharing
between organizations means that the data available to any one individual or organization is
sparse.
Our aim in this project is to create a universal database for genes, integrated with existing health
records. The enormous amounts of data we could harness with such a database could be used to
train artificial intelligence algorithms, using existing machine learning techniques, that could
probe into how our genes affect us in ways that we as yet do not know, as well as providing an
invaluable and cost-effective diagnostic tool for doctors everywhere.
Introduction
Big data and artificial intelligence technologies have been having a moment recently. It seems
like everyday something new emerges at the forefront of these fields. The massive cache of data
gathered by technology companies and the Internet at large seems to be bearing fruit. When
brainstorming ideas for this competition, one thing we told ourselves was to imagine that the
entirety of that cache full of information was at our disposal. What problems could we solve with
a literal planet-full of data? Commented [G1]: Inserted: at
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The Universal Diagnostic System encapsulates the central promise of big data technologies. It is
a system that uses vast amounts of data to find novel solutions to existing problems and, indeed,
find solutions to problems that we may not be aware of yet. It can be summarized by a simple
question: if you had access to the genes and medical histories of an entire city, an entire country,
or even the entire world, what could you do with it? It's an interesting question and one that we
set out to answer. Commented [G3]: Deleted:,
The dream of cracking the genetic code is an old one. The first genome was sequenced in 1977,
but people have dreamed of fully understanding the secrets of the DNA molecule for far longer
than that. While our modern understanding of how our genes work is sophisticated beyond the
wildest dreams of the pioneers that brought us here, our understanding remains incomplete. With
UDS we aim to advance our understanding of the genetic code, and by extension, life itself.
UDS is the result of applying that approach to the problem of genetic analysis, which is a
growing area of modern medicine. In recent years there has been an increasing number of ties
discovered between diseases and genes, however, getting a diagnosis that takes genetic factors
into account is expensive, time-consuming, and far beyond the reach of most individuals.
Modern medicine has been and continues to be, a boon to the entire world, yet one of the most
promising paths for improvement has been barred for anyone but the wealthy. Commented [G4]: Inserted: s
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With UDS we not only aim to improve on modern genetic analysis techniques with big data but
to also democratize the availability of quality genetic analysis so that anyone may benefit from it. Commented [G7]: Inserted: he
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Research
Our Inspiration
Modern medicine is one of the wonders of the world. Data is integral to the success of modern
medicine, from simple acts like doctors gathering patients' medical histories to large population
medical research studies, having large amounts of high-quality data is an essential part of
progress in medicine, access to such data can save lives. In recent years, Alphabet's Verily Life
Sciences LLC, and IBM's Watson division among others have made much progress in applying
big data technologies to medicine. It was these attempts that inspired us to create our own
proposal. Commented [G18]: Inserted: -
How it works
The basic premise of UDS is to create a database that contains the genetic, and medical data of as
many people as possible. Why genetic data? The genes we carry determine a large portion of our
biological lives and a growing number of diseases and disorders are being linked to genetic
factors. Moreover, most commonly available medical data does not include genetics despite it
being an increasingly important factor in medical diagnoses.
Once we have the data, we can use the existing knowledge to train machine-learning algorithms
to "read" the genetic data and to predict how it relates to medical conditions experienced by a
person. We expect that with a large enough data set it could be just as good, if not better than
trained experts at reading genetic code. We can then set the algorithms to search for new
correlations between genes and medical conditions and symptoms. The cumulative effect of this
will be a system that can read a genetic sequence and return a diagnosis based on analysis of
millions of other examples, and it can do this exponentially faster than any human. The system
might look something like this:
The actual system would comprise of natural language processors to read and standardize
symptoms and medical histories, as well as a specialized system to link genetic strings to
symptoms and conditions.
UDS will not contain any identity data and will be fully encrypted, however, every person that
has their data entered will be issued a Unique Identification Number (UIN), that can be used as a
sort of key to their own genetic and medical data. With the UIN the person can access their own
data, as well as control who has access to their data, including their doctor and any researchers
that might want to access it. This will allow UDS to act as a universal system for health records,
and provide data for academic research. If a UIN is lost it can be recovered by using genetic data. Commented [G19]: Inserted: ,
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Collecting the requisite data for creating UDS will, of course, be difficult, not to mention the
enormous costs involved in actually extracting genetic sequences from tissue, in addition to
indexing and developing the programs to process all of it. Many people may be initially reluctant
to offer up all their medical data, one possible avenue for overcoming this obstacle would be
obtaining this information from deceased individuals such as organ donors. Governmental
support would be invaluable in making this possible but not necessary. Commented [G21]: Inserted: ,
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Expected Impact
Medicine is a boon to every living individual on the planet. UDS helps advance medicine
meaningfully and as such impacts everyone, hopefully, it could have a positive impact on us all. Commented [G23]: Inserted: a
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As a Diagnostic Tool
We expect UDS to have an enormous impact as a diagnostic tool. With access to a patient's
genes and medical history, it should be able to provide diagnoses with a high level of accuracy,
which should help curb the estimated hundreds of thousands of deaths due to misdiagnosis every
year. Commented [G25]: Inserted: ,
Future Applications
One thing we hope to do with UDS is to make the data available to researchers and academics
that can hopefully use the data to provide us with even more medical breakthroughs that propel
us forward as a species.
Another possible future application of UDS would be providing free diagnoses to patients that
may be unable to pay doctor's fees. A person could access UDS online, input their symptoms and
get a possible diagnosis with a risk rating that could help people avoid doctor's fees. Commented [G26]: Inserted: i
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Conclusion
UDS is a diagnostic tool that pushes forward and increases access to an emerging form of
medicine. Commented [G28]: Deleted:,
It is a novel way to analyse genetic data in the context of a patient’s current symptoms and
medical history.
It creates a new standard for EHRs, one that provides significantly more value to the consumer
than existing standards.
Most importantly, it has the potential to provide millions with access to some facets of modern
medicine that have previously been unavailable.
Finally, anyone, no matter who they may be, can benefit from the Universal Diagnostic System.
References
http://www.elske-ammenwerth.de/Publikationen/z68.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727787/
http://www.dummies.com/education/science/biology/how-biologists-read-a-gene-with-dna-
sequencing/
https://www.kdnuggets.com/2016/03/influence-big-data-medicine.html
https://www.ncbi.nlm.nih.gov/books/NBK218249/
https://www.omicsonline.org/open-access/generations-of-sequencing-technologies-from-first-to-
next-generation-0974-8369-1000395.php?aid=87862
http://genomesunzipped.org/2010/09/basics-second-generation-sequencing.php
https://verily.com/projects/
Watson white paper