Deadly disease was a software bug 23andMe

The German programmer Lukas F. Hartmann recently had a second birthday. He learned that the fatal disease diagnosed in him according to the results of a genetic test is just a program bug. In the sense, not of its genetic program, but of a computer program for statistical analysis of genetic information.

23andMe is a privately held biotech company from the United States that studies the genome for as little as $ 99. A person must send a droplet of saliva to the company, and in return will receive a login and password to access the analysis results (warning: sending genetic material from Russia is prohibited by the legislation of the Russian Federation, 23andMe does not send containers for samples to Russia).

23andMe uses Illumina DNA analysis chips for its work. These chips are designed to find specific SNP markers. Today, scientists know the purpose of about 50,000 SNP markers, they can be studied on the site SNPedia.com , it is a kind of Wikipedia for genetic information.

23andMe checks for several thousand SNPs. Moreover, they compare the individual picture of the SNP with all the remaining results, of which the company has already accumulated millions, to identify anomalies. The company reports from what probable cause a person will die, what is its origin (percentage of Neanderthal genes, Europoids, etc.). The result of the analysis is constantly updated as scientists find an explanation for the new SNP markers or their interrelationships - and throughout the entire life a person receives updates via email if new information has become known from his genome.
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Lucas Hartmann registered at 23andMe in November 2010. He sent a sample - and got the result. Everything was fine, but in June 2013, a terrible thing happened: he received a letter from 23andMe. In the letter it was said that the results of his analysis revealed two mutations related to limb-girdle muscular dystrophy. “A person with two such mutations is usually sick with limb-dystrophic muscular dystrophy,” the letter said. It should be added that this is a deadly genetic disease whose treatment methods are not known: people gradually lose their ability to walk and die.

In horror, Lukas Hartmann began to read the description of KPMD in various medical reference books, and he became increasingly convinced that this was certainly a mistake: he had no symptoms. Unfortunately, in the letter from 23andMe there was no additional technical information, so Lucas decided to investigate the situation on his own. He downloaded the genetic analysis data in “raw” form from the site, installed the Promethease genome analysis program, imported the 23andMe file, and found two markers in which a mutation was detected. These are the rs28933693 and rs28937900 markers .

As is known, in the human genome all information is duplicated for safety. Backup is used in case of damage (mutation) of the gene. So, KPMD disease occurs when both the main and backup copies of a gene mutate simultaneously in the same way. This is very rare, but it happens.

Lucas Hartmann studied his SNP markers and found that he actually has two mutations, but they affect not the same gene, but different genes, which, nevertheless, are statistically related to PMDD. Hence the roots of error 23andMe: the statistical analysis simply failed, and the experts misinterpreted it.

The programmer sent a letter explaining the situation to the company 23andMe. A few days later, the company recognized the bug and apologized.

Well, if all the deadly diseases in the world were treated so simply.

PS The FDA (Food and Drug Administration) Agency under the US Department of Health published a letter claiming 23and Me.