Misdiagnosis, Meet DNA Sequencing

How many readers have experienced or know of someone who was seriously misdiagnosed for a serious ailment? All of us? I’ve seen it repeatedly even in my own immediate family. Misdiagnosis leads to failure to treat diseases and ailments that can progress to an incurable stage. Choosing the wrong path can mount serious wasted and expensive treatments, untold and unnecessary suffering, and not too infrequently, death or vegetative paralysis.

How many of us have experienced or know of someone who has been put through a sequential battery of tests without a conclusive analysis and treatment recommendation? All of us? If only there were a way to be sure, to apply an analytical process that would produce certainty and exhaust all the known possibilities. As we have finally mapped the human genomic structure, why can’t we apply similar diagnostic analysis to the world of pathogens? Why can’t we extract the DNA of “whatever ails us” and submit those nasties to precise identification analysis? Well, Megatroid, maybe we can… soon… and perhaps, to a certain extent, even now.

“For the last decade, researchers at the [University of California, San Francisco] have been working on methods for identifying pathogens based on their DNA. In 2003 Dr. Joseph DeRisi, a biochemist at the university, gained wide attention for using a gene chip called a microarray to identify the coronavirus causing SARS.

“The researchers’ latest method is called unbiased next-generation sequencing. To identify a pathogen, the researchers extract every scrap of DNA in a sample from a patient, which might be blood, cerebrospinal fluid or stool. Then they sift the genetic fragments for those belonging to pathogens.

“The technique already has proved valuable for investigating mysterious disease outbreaks, and a number of scientists have begun to hope it can be adapted to the diagnosis of individual patients’ infections. Rather than test for a suspected pathogen, a doctor could simply run a DNA test that could identify the culprit no matter what it is — virus, bacterium, fungus or parasite.

“‘It could be one test to rule them all,’ Dr. DeRisi said in an interview. But such a test would be useful only if it were fast, and sorting through millions of DNA fragments has been an intensive technological challenge. Playing this match game can take weeks.

“‘The problem is that your critically ill patient will be dead by the time you make a diagnosis,’ said Dr. Charles Chiu, a pathologist at the university who collaborates with Dr. DeRisi on diagnostic technologies… Dr. Chiu and his colleagues have developed software that rapidly compares DNA fragments with genetic sequences stored in online databases.” New York Times, June 4th.  Wow! As that database grows, and assuming ubiquitous access to that information, DNA tests could routinely analyze sample and produce thorough and accurate results. Hey, Bones, maybe that Star Trek inspired Tricorder could become a near-term reality.

The Human Genome Project involved a huge, open-source international collaboration in which pharmaceutical companies released claims to proprietary research in order to complete a map of human genes – about 20,500 of them. Completed in 2003, it was one of the most important steps to accelerate medical research in modern medical history. Once again, we have an opportunity to create another open-source resource project to map the genetic signatures of pathogens of every shape and form. With the Myriad case in tow (a 2013 Supreme Court ruling that human genetic research for what “is” does not generate patentable protection), we have another opportunity to save hundreds of billions of medical waste, the pain and suffering of misdiagnosis and medical solutions that can be ascertained and implemented, often at life-saving speed. If you care, write your Congress person now.

If you want to see an area that would benefit from federal research funds and prioritization, this has to be it. It may be an expensive process so far, but standardization and centralized open-source access, will drop those costs like a stone toss off Gibraltar.  We have supercomputers that make the actually processing time very short. So would you like to see some massive expenditures on new jet aircraft that may already be obsolete… or research that might just save your life or the life of someone you care about deeply?

I’m Peter Dekom, and in a society that caters to profit-making over life-saving government policies, it is time to re-prioritize what really should matter to us all.