05 April 2010

Genetic testing: Affordable vs future research

In the wake of a Federal court's ruling last week against a Utah company holding patents for BRCA1 and BRCA2, Tracing the Tribe has some questions.

On the plus side, Tracing the Tribe believes that companies now wishing to provide lower-cost, more affordable, genetic testing will be able to do so - eventually - although legal experts believe the case will land in the Supreme Court.

Note that Tracing the Tribe is not talking DNA genetic genealogy testing, but rather testing for specific genetic conditions/diseases. The questions are relevant because some patent holders charge high fees for those tests, restricting affordable access to those who may want or need those tests.

Please chime in here, dear readers:

(1) Should genetic testing for specific conditions/diseases be made more affordable and accessible, e.g. low-cost, to everyone?

(2) Should high fees be demanded of those wishing to test - to provide financing for research on those conditions.

(3) Who owns your DNA? (according to this case, it isn't the DNA patent-holder).

(4) Because this is a Jewish genealogy blog, Tracing the Tribe is well aware that when Tay-Sachs testing (a tragic, nearly fatal by age 3, neurological disease) went worldwide, the incidence of its occurrence dropped by some 98%. This was due to widespread, affordable, accessible testing across the Jewish world. There are many other genetic diseases impacting mostly those of Jewish heritage. Shouldn't those families have affordable access to lower-cost testing?

According to paper, the DNA industry is waiting to hear the reaction to the ruling .

Scientists and health advocates sued Utah-based Myriad Genetics, which held patents for two genes, BRCA-1 and BRCA-2, linked to breast and ovarian cancers. The groups alleged that the patents were improper because the DNA was a natural substance in the human body. The federal judge sided with the plaintiffs, invalidating parts of the patents.

Ken Alltucker's article says that researchers and companies are interested because the ruling could impact many other genes.

The ruling is critical because an estimated 20 percent of human genes have been patented. Companies launched based on those patents, with investors betting that companies could profitably develop drugs or devices targeting an individual's unique DNA.

But critics argue that such patents stymie research. Scientists often are required to get permission from the gene patent holders before using the information for research. Some companies even charge fees to use them.
The story quoted Arizona BioIndustry Association president Robert Green:

"The key in biotechnology is you have to raise a lot of money to get to the cure and get to the product. You can only raise that money if investors know you have some patent protection. If you don't have that, there is no incentive for people to invest in these risky technologies."
Some 20% of human genes have been patented, according to the story. Investors betted that companies could develop drugs or devices based on a unique DNA.


  1. Genetic testing should be affordable for those that have a need to know what potential threats their bodies have or may have in store for them. The thought that a company could “own” a portion of any person’s inner most component parts is patently (excuse the pun) absurd. The argument that a patent showing ownership of a gene is needed to raise capital for research seems to be a gimic to fund new ventures rather than have existing research facilities conduct the research. Much food for thought.

  2. This is one story but I'm sure there are other stories like it. A non-Ashkenazi acquaintance with a young daughter was diagnosed with an aggressive form of breast cancer. The woman was not advised about the possibility that she could be a BRCA1 0r BRCA2 carrier because she is not known to be Ashkenazi. But, although she is an Irish Catholic woman, she does not know who her mother is!!! Her parents divorced when she was an infant and she knows nothing about her biological mother or her family. Her doctor did not advise she get the genetic test for BRCA1 0r 2 and insurance will not pay for it; she cannot afford to pay for the test herself.

    We know that the BRCA1 and BRCA2 mutation occurs in Ashkenazi, Hispanic and French Canadian women, yet many women who might benefit from this genetic test do not have access to it because Myriad's patent and the high price they charge for it.

    I hope the Supreme Court rules against Myriad as the lower court has. This test could be produced and sold at a much less expensive price, making it available to pre-menopausal women with agressive breast cancers even if they have no known Ashkenazi ancestry. The mutations pre-date the Ashkenazi-Sephardi split, and the Inquisition spread crypto-Jews and conversos (and BRCA1&2) all over the world.

    Let's give all women a chance to be tested, particularly if there is any chance that they had Jewish ancestry, even 500+ years ago.

    Judy Simon