Brilliant UK student builds PCR machine by hand to test a mutation

The things that I learn from Twitter! This is rather interesting: a bright teenager from West Yorkshire, UK, got tired of hearing that his ginger haired brother wasn’t his biological sibling. So, he did what teen-aged school students would normally do – kidding! – he built a PCR machine, by hand, utilizing electronic components scavenged from an old VCR (who knew those were still around!). He used that home-spun PCR (Polymerase Chain Reaction) machine to amplify cheek cell DNA from his brother, and sent off the amplified specimen to a laboratory to be analyzed; the results, as he expected, showed his brother to indeed have a specific mutation in the gene for melanocortin 1 receptor (MC1R), which renders his hair color ginger.

As perhaps characteristic of ‘science by press release’, the Sun UK article which mentioned this was quite light in terms of scientific information. For example, I have no clue how he extracted the DNA from the cheek swab, what enzymes/primers he used for the amplification reaction, or whether the lab tested the DNA for only the mutation or if it was also a full sibling test. Nevertheless, the feat was quite impressive, and most certainly, massive plaudits to the youngster for his engineering skills and good understanding of biology.

However, there are three germane questions that concern me a bit. I want the best for this bright and industrious student, and therefore, these questions are best considered right at the outset, so that there is no adverse situation later, that hampers his education and training. The questions have to do with:

1. Privacy: The student used his brother’s DNA to extract a medical information (about the presence or absence of the mutation). I don’t know about the UK, but in the US such a use would generally be covered under HIPAA (Health Insurance Portability and Accountability Act of 1996), as well as possibly other Federal regulations. Of course, HIPAA doesn’t apply to individuals, but it would presumably apply to the laboratory which analyzed the DNA for the mutation. Now, under the provisions of HIPAA, the protected health information (PHI) may be disclosed to the individual to whom the information directly pertains (in this case, the brother); it also may be disclosed for the purpose of research (which this use seems to qualify as), but only in a manner approved by an institutional review board or privacy board. These rules may not apply to the young folks, but I wonder if the Sun UK, which publicly disclosed the presence of the MC1R mutation in the brother, has obtained the required permissions. (Once again, I confess to my ignorance of the privacy process in the UK.)
2. Ethics: I wonder if there exists a mechanism for handling genetic information of this kind, in this kind of a situation. What if one of the aspects of the test results indeed showed that the brothers were not biological siblings – in that event, who would handle the ethical quandaries arising out of such information? To me, a worse ethical dilemma would arise out of the fact that individuals carrying MR1C polymorphisms may be at a higher risk for melanomas; now that this information is public for the brother, what if he is refused healthcare coverage for being high-risk for certain cancers?
3. Intellectual Property: For better or for worse, the PCR was patented, and by March 2006, these foundational (a.k.a. early process) patents expired for both the US and Europe. However, patent battles associated with components of the in vitro PCR process (as well as modifications of the basic process, such as Real Time PCR) continue intermittently. Moreover, there appear to be some currently valid patents for various components of the PCR machine (US Patent Office links here and here). There are now guidances available on the internet for building Open Source PCR machines. In addition, a 2006 study on the impact of patent protections on PCR found that one of the reasons why PCR was such a celebrated and widely used tools despite heavy protections was a policy of “rational forbearance” from suing researchers for patent infringement by the companies which held those patents; there is no reason to consider/fear that the said magnanimity on part of these companies would wane. Nevertheless, it is always a good practice to familiarize oneself with these intellectual property matters.

In the final synthesis, my raising these questions is not intended to dampen the spirit of this remarkable youth, or diminish his significant achievement in any way. However, in an increasingly complex world, it is also important to be trained in recognizing the possible consequences of one’s actions, and acting accordingly. I wish this student all the very best; he is truly an inspiration to many of his age and beyond.