Keeping up with genetic tests and their data

As you might know, there is a lot going on in the field of genetics just in terms of tests and data, outside the tremendous research on genes and other related issues, and its hard to keep track of it.

Genetic Tests

As we speak, new genetic tests from cancer to skin problems to drug assessments, etc. are becoming available.

Most of the common tests check certain genes for mutations and do some assessment of it.
Along with these, there are more specialized tests that look for a set of specific mutations to assess a certain disease.

To make it easier to navigate this rapidly changing landscape of genetic tests, the National Institutes of Health has introduced the Genetic Testing Registry (GTR) recently (in March 2012).

The free online tool was developed as a public database to assist health-care professionals to better understand patients’ diseases and researchers to close gaps in scientific knowledge.
It also aims to help consumers struggling to decipher the complex world of genetic testing.

The registry is of course not limited to tests and can be used for much more.

Direct-to-Consumer (DTC) Tests

An expanding field is providing some analysis directly to the consumer as a personal crutch rather than a medical process.
This includes companies like 23 and Me, NaviGenics, decodeMe, Pathway Genomics, etc.

I think this  information will be used for medical decisions and not just for personal vanity.
For e.g. my analysis shows that I have a negative response to statins and I will let me doctor know when he prescribes me statins for my cholesterol. So, right now, I have to interpret this data and convey it to my doctor, which leaves room for error but is a step forward.

Medical/Specialized Tests

Parallel to DTC testing, there is medical or specialized testing where one looks for a certain condition and these are offered by companies like Athena Diagnostics, King Laboratory (as seen in the GTR), etc.
Your doctor may order these to evaluate certain things and these may be covered by Medical Insurance.

Genetics Data

In the future, genetic tests will be more common and more deep and diverse leading to very large amounts of data.
This called Big Data by some and it is not possible for a human to make sense of this without help.
A definition and a set of tools can be found here. These two posts pretty much cover what I had to say, so I won’t reinvent the wheel.

We will have new tools to analyze this data and visualization tools that can represent this data visually for us to interpret.
Software would be used for this analysis and we would move from Photoshop and Illustrator to more loosely coupled websites or software engines that can use the cloud or get this data from somewhere.
Some standards would have to be developed so that this genetic information can be generated by various providers in a format that is standard so that different tools can use an open standard for their purpose.

As an example, direct-to-consumer sites like 23 and Me and decodeMe have different output formats of your genetic data.

Visual events could be somehow synchronized with genetics to provide a more complete picture of our health.
Visualization seems to be a growing field and many designers and companies are taking this up.
User experience is a part of this since the graphs have to be appealing to humans and even the end consumer rather than a doctor would look at them.
I will have a different post on visualization, later.


About Ra

Software Engineer (worked in corporations to healthcare start-ups), Geek, Musician, Artist, Fellow Human - living in the covergence space of healthcare, software, interaction design, the quantified self and genetics, music and spirituality
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