A DNA Sequencer Cheap Enough For (Some) Doctors' Offices

cylonlover writes "Until recently, DNA decoding machines — fitting in the US$500,000 to $750,000 price range — would take weeks or even months to sequence a human genome, and the whole procedure would cost $5,000 to $10,000. That could be about to change, however, as Life Technologies introduces the Benchtop Ion Proton Sequencer — a machine that may finally deliver the power of genetics into the hands of ordinary doctors thanks to its $149,000 price tag and ability to decode a human genome in one day at a cost of $1,000."

Comments

Hands of ordinary doctors

[nbauman]

Yes, you bring your doctor a thumb drive with 3 billion base pairs of your genome, coding for 23,000 genes. Do you know what he says?

"What am I supposed to do with that?"

Years ago, people thought that we could find Mendelian genes for all the important things in health and disease. Now it turns out that most of the important things we want to know are controlled by hundreds or thousands of genes, each of which increases the risk by 1%, sometimes less. That's for things like cholesterol, autoimmune diseases, cancer susceptibility, etc.

For the most part, your family history is a better predictor than any genome screening. Gene tests usually aren't useful unless you have a particular gene in your family and you want to find out whether you have it, like the BRCA genes for breast cancer. If your mother died of breast cancer at age 40 because of the BRCA1 gene, and you don't have the BRCA1 gene, you don't have to worry.

Re:Hospitals

[bill_mcgonigle]

It needs to drop a bit more before seeing it at your local pediatrician's.

And I'm not sure that it ever will. How long has generating a CBC been a solved science? But the pediatrician will still send you over to the hospital's phlebotomy lab to get one.

I guess they do do instant strep tests in the office. When a DNA sequence costs $15 including equipment perhaps they'll do it.