Gene Patents and Genetic Testing

NOTE: Getting Advice About Genetic Testing

This week, Angelina Jolie wrote an editorial for the New York Times describing how she underwent a double mastectomy after testing positive for a deleterious BRCA1 mutation.

This article stirred up a lot of discussion because she mentions how "[the] cost of testing for BRCA1 and BRCA2, at more than $3,000 in the United States, remains an obstacle for many women".

Although there have been responses pointing out that insurance can significantly decrease the out-of-pocket costs to the patient (under the right circumstances), the question remains "Why is the test so expensive?".  After all, the true cost to perform the test is much less than $3,000.

The genetic test in question is Myriad's BRACAnalysis test.  This company should sound familar because the Supreme Court recently heard a case from Myriad to decide if human genes can be patented (the BRCA1/2 gene patents are the reason why the Myriad test costs so much).

There are lots of resources to learn more about the court case and BRCA testing.  For example, Chris Mason recently wrote good summary on the topic.  However, I want to re-emphasize a couple important points here:

1) It is possible to provide a genetic test covering a panel of diseases at ~1/10th of the cost.  For example, 23andMe provides carrier status for a variety of diseases (including some BRCA1/2 mutations) for $99.  Likewise, Counsyl offers genetic testing that is less than $100 with insurance or less than $1000 without insurance.  There are also various options for discovering mutations in raw sequencing data, whose cost is continually decreasing.

2) The basis of Myriad's claims to retain its patents is the high development costs to develop the test.  Regardless of the ethical arguements against gene patients (and the high likelihood that genetic tests will be based upon findings from government-funded research), this is no longer a technical concern now that the human genome has been sequenced.  There a multitude of freely available tools to help clone any region of the human genome.  There are certainly still novel discoveries out there (like novel non-coding genes, fusion genes, etc.), but I would argue the tricky part is asking the right question - the production of the cDNA is then trivial.  I see no reason why individuals should have to pay for the costs of a patent for the interpretion of a medical discovery reported in the scientific literature.