May 14, 2013

The Decision

Filed under: Uncategorized — heavytailed @ 6:48 pm

The big story of the day is Angelina Jolie’s public announcement of her recent double mastectomy. This is obviously a very serious procedure, and a difficult one to endure both physically and emotionally, and in both regards it never really “ends”. Her point in making her decision public is

 there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get gene tested, and that if they have a high risk they, too, will know that they have strong options. …

I want to encourage every woman, especially if you have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this aspect of your life, and to make your own informed choices.

This is important. Genetic screening is (and rightly should be) an increasing diagnostic tool to assess disease risk. The benefits vary by disease (for a great many, prediction based on the entirety of our knowledge of causal loci is inferior to that based on family history) but for mutations like BRCA1, RAD51, TP53 with large risk profiles should they be perturbed, diagnostic screening is a great source of (what Angelina Jolie would likely describe as) important information. But, at the same time as Angelina Jolie encourages women to seek out this information, nothing is said about its availability or cost.

Unmentioned in her statement (and really, it had no place there) is the fact that women are in danger of having this very information if not denied them, then rendered inaccessible via monopolized costs. If one looks on the BRCA1 wikipedia page there is a reference to the case Association of Molecular Pathology vs Myriad Genetics. See, Myriad Genetics patented the genes BRCA1 and BRCA2, and diagnostic methods relying on mutation screening for these genes. Should these patents be upheld, then cancer diagnostics like those performed for Angelina Jolie could not be priced by a competitive market, but instead have prices set by a single for-profit monopoly. This has some rather obvious implications for accessibility and cost, especially because government programs exist to defer the costs of breast and cervical cancer diagnostics. In other words, the price can be set rather high, because insurance companies and the government will pay for it – but if you don’t fit the definition of “underserved,” if your insurance company only partially covers the cost, or if nobody’s told you about these government programs, the cost can easily become prohibitive.

The ability for women to seek out this information is therefore tied to the decision of the Supreme Court in this matter. Where, exactly, do we stand? Well prior to the case’s appearing before the SCOTUS:

The Federal Circuit panel held that human chromosomes are not patent-eligible because they are products of nature, but a majority found that “isolated DNA” fragments of human chromosomes (such as pieces of the breast cancer genes) are patent-eligible. The Federal Circuit’s distinction rested on its assumption that (unlike whole chromosomes) isolated DNA fragments do not themselves occur in nature, but instead only exist by virtue of the hand of man. (source)

Forget, for the moment, that this implies the entire genome can be patented piecemeal (just patent each “fragment” of a few thousand nucleotides long), it’s also dead wrong (biologically, at least). DNA fragments are basically everywhere in your body, and one way for them to get there is cell death, or simply stress. In the oral arguments heard last month, the Justices seem to have been significantly influenced by a compilation of evidence that such DNA fragments routinely occur into a court brief, colloquially called the Lander brief(pdf) (after Eric Lander). The brief itself provided a small bit of novel analysis, taking publicly-available gene sequencing of blood-serum DNA (in fact, foetal DNA fragments present in maternal blood), aligned them to the human reference genome, and examined the BRCA1 and BRCA2 regions, finding that both had a significant number of sequenced fragments uniquely aligning there.

So what does this mean? Well if the court reaction during oral arguments is any evidence, it suggests that the particular decision of the Federal Circuit is likely to be overturned (though the outcome may be the same, but for a different reason). It’s certainly a step in the right direction for breast cancer diagnostics specifically, and genetic diagnostics in general.



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