Los Angeles Times Article “DNA Sequencer could give doctors wealth of genetic information”.


An article appeared in the Los Angeles Times last Saturday January 4, 2014 that is of interest to the genetic genealogy community:

DNA Sequencer could give doctors wealth of genetic information.
www.pressdisplay.com/pressdisplay/viewer.aspx

The article was prompted by the recent FDA approval of the Illumina MiSeqDX DNA sequencer that can sequence a human genome in a couple of hours for about $5,000. Also approved last fall were two Illumina assays that can sequence for 139 genetic variations associated with cystic fibrosis, one of the most common inherited diseases.

The rapid turn-around, low cost, and more accurate sequencing of genetic data prompts the question:  Now that we can sequence a genome faster, cheaper, and better, what do we do with all that data?  The 2008 Genetic Information Disclosure Act (GINA) made it illegal for insurance companies or potential employers to discriminate against anyone because of his DNA.  But this was just the first of many issues that must be dealt with as we have increasing ability to access our own genomes.

If an individual gets his entire genome sequenced, who knows what he will discover?  And even if he is only interested in sequencing those parts of his genome containing information  specific to a genetic disease such as cystic fibrosis, what other unexpected markers might be discovered?

As an aside, in 2007, Nobel Prize Laureate James Watson, recognized along with Francis Crick and Rosalind Franklin for the discovery of the DNA double helix structure, was the first person to receive his personal genome, in a ceremony at Baylor College of Medicine (see www.bcm.edu/news/publications/fromthelabs/vol06/is5/0607-1.html).  It cost $1M and took two months to sequence. 

Because Watson has a family history of cystic fibrosis, he requested that the segments of DNA containing the cystic fibrosis genes be omitted from his data. However, a few months later at a conference, someone commented that although segments specific to CF were omitted from the data presented to Watson,  because of the phenomenon of linkage disequilibrium, the data still contained information sufficient to tell him whether he carried the markers for the disease.  (Linkage disequilibrium describes the non-random inheritance of genetic markers, so that they appear together in the population more or less frequently than if they were inherited independently).  His data were immediately edited to delete the linked segments.

The article assumes that physicians are needed as intermediaries in genomic testing and evaluation – “[should] physicians ordering such tests – and the patients receiving their results….decide in advance how much of that incidental information they want to know”. However, the article also states that it might take a while for physicians to become proficient in conveying such information. Dr. Robert Green, a medical geneticist at Harvard University comments that,”We know that people get state-of-the-art genetic counseling and still walk out of that office confused”.

The direct-to-consumer (DTC) issue is addressed only as a muscle-flexing action on the part of the FDA, whose recent cease and desist order to 23andMe centered on the accuracy and reliability of the information provided by 23andMe’s personal genomic testing services. The a discussion on the nature of 23andMe’s claims about its product versus the FDA’s approval of its DTC testing is outside the scope of my comments.  But these claims aside, if physicians are not proficient in interpreting and conveying genomic information, why can’t I do that on my own?

What is not explicitly discussed in the article is the enormous market that is being created for genomic-information services. United Health Services Inc, the largest publicly-traded health insurer, estimates the market will increase to about $25 billion annually within a decade [1].

The public debate is about the accuracy and reliability of the genomic information conveyed to a patient.  But hidden below that is the real question of whether the medical industry can control that $25 billion annual market now that off-the-shelf technology enables genomic information to be made available direct-to-consumer.

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About identifinders

Rocket Scientist turned world class Forensic Genealogist.
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