The Holistic Genome

The Holistic Genome – blog

Brains, DNA and Direct to Consumer Genetic testing

with one comment

In the recent months, I have had the unfortunate (and humbling) experience of being on the receiving end of healthcare.  While laying in the MRI machine today, I have come to an important conclusion regarding direct to consumer genetic testing.  As I left the radiology suite today, I was offered a copy of my scans on a CD-ROM.  I realized that patients, myself included, have come to expect this practice.  (Especially, if the patient pays for most if not all of the scan themselves).  After all, it is my body being scanned and I was paying for (at least in part) the service.

These CD-ROMs which contain the radiology images are not unlike the results from direct to consumer genetic testing companies.  These images are composed of a bunch of ones and zeros, just like out DNA is composed of A,G,T and C s. Many of these radiology CD-ROMs even include software for viewing these images and I, like many other patients, rushed home to look at them.

How should the interpretation of these ones and zeros be regulated?  What if there is a computer algorithm analyzes my brain images and is able to calculate my hat size … my brain volume … my personality score … my risk for brain cancer?  It is a slippery slope, my friend.

My point is our DNA sequence, just like the images from a radiologic scan, is just data.  A bunch of ones and zeros, or A, G, T and C s.  I have trust in the licensed and board certified radiologist who will interpret this data and I have faith in the credentialing process.   ( disclaimer: I am a doctor, remember)

Hands down, I think that patients should have access to their own genetic data.

However, when a person, or company (shielded by a computer algorithm), makes interpretations about this data which has clinical implications, such as being a carrier of a disease or how one metabolizes drugs, then like it or not that is ‘practicing medicine’ and should be regulated accordingly.  Problem is… who?

Listening to the recent open meeting held by the FDA about laboratory developed tests, it is my opinion that analytic validity should be separated from clinical utility when it comes to direct to consumer genetic testing.  The real argument is in the interpretation of the data, either by qualified experts, or increasing, by smart algorithms.  ( disclaimer : I am a biomedical informatician creating these smart algorithms and I am not keen on regulation. )

The real problem is that the FDA does not have the resources to regulate software or computer algorithms, nor is it in their mission to do so.  Well… if not the FDA, then who?

My guess… Certification Commission for Health Information Technology or CCHIT, but they only just formed a few years ago.  And as the saying goes, ” The horse is out of the barn!”


Written by Jonathan Holt, DO

July 21, 2010 at 7:57 pm

Posted in DTC, genetic testing

One Response

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  1. It’s an interesting point to distinguish between raw data and interpretations.

    As a point of fact, however, you’re wrong about it being beyond FDA’s resources, mission or expertise to regulate software and/or algorithms. Almost all in vitro diagnostics use software, they haven’t been simple chemistry tests for a long time.

    Although it may seem counter-intuitive to regard software as a “device” that is exactly how it is regulated. Software, like the physical elements of a diagnostic, must undergo design control, validation and clinical testing. FDA has been requiring this for many years and will continue to for the foreseeable future.


    July 26, 2010 at 9:25 am

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