No More Skin Biopsies????

Imagine going to your dermatologists office and instead of getting biopsied for your funny looking mole, the dermatologist places a little sticker on the mark.

He sends it off in the mail and later that week you are told that it is just a mole....phew......

That is the promise of a new technique called EGIR or epidermal genetic information retrieval. A new company called DermTech has just developed the technique. So what is the technique and how does it work?

The tape collects RNA from the skin sample. The sample then was amplified as cDNA and a microarray checked for the 117 gene analysis. This technique was studied and a 5 gene profile was adopted and accurately differentiated melanoma from benign skin changes. This technique is being evaluated at University of California San Francisco.

The Sherpa Says: In general only 3-10% of suspicious lesions are actually melanomas. The traditional method to detect includes a scalpel excision.....Tape......Scalpel... You decide. However, this is only a small study that determined proof of concept. There is a replication study underway and despite being great for the patient, the dermatologist can't exactly bill for RNA extraction. They do get paid very nicely for skin biopsies though. Not quite for prime time, but it does demonstrate how ubiquitous genetic soon will be in the office.

Minor Retraction

I would like to post a minor retraction. After spending time reviewing a certain Direct to Consumer genetic testing website, I found mention of:

1. That not all hemochromatosis is caused by HFE. It was one sentence in relation to several paragraphs on the page.
2. That you could test for iron studies, "Doctors usually perform screening tests before moving on to genetic testing or liver biopsy. " No, ALL doctors test iron levels prior to genetic testing or liver biopsy. It is the standard of care. You would get sued if you did not test iron studies first.
3. On their HFE questionnaire there is no place to state "no/yes my iron has been tested"

So... sorry for failing to mention that this info can be found approximately 5 clicks away from the testing info.

By the way, Myriad just released their 10Q for December Gross profits have tripled since 2004. Perhaps it is due to the "lab reps" they send into swanky offices in Greenwich and Park Avenue? Or maybe it is their gene patents, stifling innovation and research. Shame on you Dr Henderson