The Wacky World of Genetic Testing

April 7th, 2006

When it comes to testing for known gene mutations that influence breast cancer, there's only one game in town…if you're in the U.S. That's Myriad Genetics Lab. They hold the patent not just on the BRCA-1 and BRCA-2 gene testing, but on the gene mutation sequences themselves! Did you know you could patent something that already existed? I didn't!

I say they're the only game in town in the US because in Europe, Myriad's patent (at least for one of the mutated gene sequences) was not held up in opposition. They won't acknowledge the patent, perhaps just because they have some sense, but also because they feel that allowing Myriad a monopoly on testing is a impediment to patient care.

So, the Europeans have developed their own testing for these mutations and it sounds like their methodology is actually better. You see, there are different kinds of errors that can occur in a gene sequence that results in a mutation. For example, part of the gene can be missing, it can be damaged, or everything can be present, only in the wrong order (a re-arrangement error). The Myriad test doesn't catch all re-arrangement errors, but it sounds like the European test does.

Does this matter? Well, a study came out just two weeks ago about for people from high-risk families are tested for BRCA1 and BRCA2 mutations, Myriad gives false negatives twelve percent of the time. That doesn't mean that 12% of the women who take the test and get a false negative are really positive. This just applies to women who come from families with a very strong history of breast cancer and who get a false negative.

But wait, Myriad can use this press release to their advantage! They just announced that, "Myriad is trying to improve its testing capabilities beyond the 5 most common sequences it presently looks for. Within the next 9 months the new test, BART PANEL, will be introduced to further screen those high risk mystery families. It will be a separate test and for those who have been tested prior, it will be an option, for a price which is unknown at this time."

Hmm, a price unknown. Okay, let me guess…that means…really, really expensive?

Sigh.

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