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Monday, June 3, 2013

Speaking of "Health Information Technology"...

What do YOU think? Why? Do you simply assume that genetic assays are unfailingly "accurate"? Do you even know what the word "accuracy" means in the context of laboratory analysis?

One of my current reads:

Processing DNA samples requires that humans collect and handle biological samples, which are then subjected to laboratory techniques run by human technicians. DNA testing is only as reliable as are the people overseeing each of these processes, and infallibility simply cannot be achieved. Therefore, forensic scientists must depend on quality control, retesting, troubleshooting, and transparency of every decision made in the process to achieve reliable, trustworthy forensic evidence every time [pg 280].
Do you know the difference between "forensic laboratory" science and commercial clinical assays (including DNA testing)? Do you simply assume that the presence of the word "forensic" means 100% accuracy?

You shouldn't.

I have some history with this issue, broadly.


Scientists from research and health-care groups including Harvard University and the U.S. National Institutes of Health are trying to create a way to standardize and share genetic information before the DNA-scanning field develops into a balkanized mess.

The effort would harmonize data valuable to researchers and medical workers by creating technical, ethical and privacy standards. The group wants to help create a format that would let genetic information be used across institutions, rather than be stuck in closed systems as it is now.

Gene-sequencing costs have fallen rapidly and may soon approach $1,000 to code a person’s entire DNA. The analyses can help diagnose and develop treatment for cancers, rare disease and other conditions with a basis in genetics. It is projected that more than 1 million people will have their genomes scanned in a few years, said David Altshuler, a geneticist at the Broad Institute, a research group affiliated with Harvard and the Massachusetts Institute of Technology.

“We are not organized to seize this extraordinary opportunity -- nor are we on a path to do so,” the group said in a June 3 report...

Article link here.

More to come...

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