Genomic sequencing: price drops and roadblocks

Of prices and roadblocks

It took 26 years, more or less, and billions of dollars to first sequence the human genome. The concept was proposed in 1977; the Human Genome Project reached its full goal in 2003. And without substantial funding support, that goal wouldn’t have been reached by then.¹

So what’s happened since 2003? The graphic here shows it: prices have been dropping like a rock. In 2010, it could have cost you roughly $50,000 to have your entire genome sequenced. In 2011, the price had dropped to $10,000. In 2012, a regular sequencing costs as little as $3,000,² and a super-fast one — results within two weeks — costs $9,500 per sample, with volume discounts to $7,600.³

We are certainly within shooting distance of having whole genomic sequencing available for $1,000 — a price point at which, folks think, it will become a standard part of medical testing and, coincidentally, the point at which it starts to become thinkable for use in genealogy.

So what’s the big deal about genomic sequencing? How is it different from the DNA tests we do now? Bottom line: we’ll get a ton more information from sequencing than we get from today’s autosomal DNA tests.

Here’s the fundamental difference: current tests sample DNA from specific locations in the genome where we know that inheritable differences from one person to another are likely to show up. Based on the samples, certain predictions are made mathematically about what the DNA looks like in between the sampled locations. But sequencing looks at all of the DNA, not just samples. It isn’t necessary to predict what the DNA shows — it’s actually being read in those locations, not estimated.

Anybody who’s done autosomal testing — Family Finder with Family Tree DNA or Relative Finder with 23andMe — knows the frustration of getting a match who’s estimated to be a third cousin who turns out to be a sixth or seventh cousin, or vice versa. The expectation is that the predicted relationship ranges should stand on much firmer ground in genomic sequencing as opposed to today’s genomic sampling. And that’d be a very good thing for genealogy.

So will it happen? That’s where the issue of roadblocks could come in. Last week, The Legal Genealogist‘s Sunday DNA musings took us into the realm of United States patent law and the issuance of a patent to 23andMe ,and the relationship I see between that and the patent issued some years ago to Myriad Genetics on the BRAC1 and BRAC2 cancer genes.⁴

What bothered me about 23andMe’s patent, U.S. Patent No. 8,187,811, “Polymorphisms associated with Parkinson’s disease,” was that the patent appears to lock up the right to test anybody’s human genome for the presence of one particular marker that’s linked to a predisposition to develop Parkinson’s Disease. The testing method doesn’t appear to be anything new — it’s the same testing we do for everyday genealogy; the genetic marker isn’t anything new — it exists in nature and natural things and natural laws aren’t supposed to be patentable; and reporting the existence of a link between the gene and the disease isn’t an invention as I understand the word.

And it’s exactly the kind of patent claim that could put a roadblock into the path of whole genomic sequencing, particularly for medicine and — I’d be willing bet — if the medical boys don’t get it, we genealogists won’t either.

Here’s what the Human Genome Research Institute has to say:

Patenting genetic discoveries has proven controversial over the past several years. There are now patents associated with around a quarter of the genes in the human genome. Patents are extremely valuable to those developing products based on genetic discoveries. They are issued to encourage innovation, and provide protection to allow those investing in genetic research the opportunity to maximize the profit from their investment.

However, when patents limit the use of basic genetic information, they threaten to inhibit or limit biomedical research. There are concerns that the large number of patents associated with the human genome will limit the integration of personalized medicine into health care either because of restrictive patents or prohibitive costs. So-called “patent thickets” therefore have the potential to inhibit the translation of genetic discoveries into health care benefits.⁵

A 2010 report by a medical advisory committee to the Secretary of Health and Human Services concluded that:

Patents on genetic discoveries do not appear to be necessary for either basic genetic research or the development of available genetic tests. … (P)atents have been used to narrow or clear the market of exising tests, thereby limiting, rather than promoting availability of testing. … The substantial number of existing patents on genes and methods of diagnosis also pose a threat to the development of multiplex testing, parallel sequencing, and whole-genome sequencing, the areas of genetic testing with the greatest potential future benefits.⁶

Patent claims specifically focused on the “if this gene is here, then that likelihood is present” type of analysis, such as appear to be made in the 23andMe patent, have already been struck down in the Myriad Genetics case, which was reargued this past week in front of the U.S. Court of Appeals for the Federal Circuit in Washington, D.C. Myriad’s original patent included the right to analyze and compare DNA for the presence of the cancer genes, and a district court threw that methodology claim out in 2010.⁷ The Court of Appeals’ original decision in 2011 upheld that part of the district court opinion — in other words, the method wasn’t patentable.⁸ That appears to be the law of the case today.

But until and unless the courts resolve the question for once and for all whether patents are available for this sort of thing, the future for genomic sequencing is cloudy.

Here’s one genealogist who’s hoping for the storm front to move through… and for the sun to shine.

 
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