Bioinformatics Bazaar

I love Apple's app store (AS). You can use it to download applications to monitor the weather, trade stocks, summon taxis, file taxes, shop, code…... The Apple AS is like a shopping mall that leases space on its premises for companies to sell every conceivable product or service. AS was not the first online market though and was preceded by others like Amazon and eBay.

Steve Jobs in his figure, posed a formidable obstacle to the AS’s existence as he sought complete control over both iPhone’s hardware and software. This is why unlike other smart phones launched before the first iPhone, it cannot be disassembled by the lay man.

 But thanks to so some plucky and contrarian subordinates of Jobs, Apple eventually rendered its iOS compatible with third party applications.The AS has been expanding in a virtuous cycle since……where Developers build useful tools for iPhone users….. who evangelize the device to their friends…… who buy more iPhones…..which in turn attracts more developers.

Similar opportunities exist in Genomics industry where customers volunteer their Genetic Information to Platforms identical to the AS for teams of data scientists to mine for myriad insights covering Ancestry, Health, Fitness, Entertainment etc.

Helix, a spin out of the publicly listed illumina, is working to build such Platforms. Here is what I believe their raison d’être should be. To

·      Secure Genomic Data with the state of the art encryption technologies and protocols

·      Provide assay , Laboratories and Database Infrastructure for Bioinformatics entrepreneurs

·      Shoulder the regulatory burdens of storing and analyzing Genomic Data while minimizing it for their partners

The more diverse and voluminous the Genomic data on such Platforms the more appealing it will be to analysts.

When marketplaces built by entrepreneurs meet the aforementioned conditions , a vibrant Personal Genomics Bazaar will start to take shape. Where you can avail services from companies that a) compare your Single Nucleotide Polymorphisms, a type of innocuous mutation, with those of Lebron James,b) offer biological rationalization for your taste in wine or mercurial temper c) offer counselling after being identified as a carrier of the Early Onset Alzheimer’s Gene d) trace your lineage back hundreds of years…..ad infinitum.

The remains of Richard the third, a figure of great historical significance, were found in a crude grave in a friary church through a extraordinary initiative undertaken by the University of Leicester applying the disciplines of genealogy and genomics that took the academics involved across the Atlantic and back in their quest discovering his sixteen generation great niece in Canada in the process. Perhaps there will be a service on this Bazaar, this Platform, that will help you understand your aristocratic origins. But is such a Bazaar’s success a foregone conclusion

Well…. I think it will encounter numerous hurdles that could prevent it from reaching its full potential. I wrote this post to list and understand these hurdles

Regulation

First and foremost, the Genomics industry has to start coordinating with government bureaucracies to reduce the complexity of current patchwork of laws governing patient’s Electronic Medical Records (EMR): HIPAA, CLIA GCP, EU-US privacy blah blah blah…..as it acts as a barrier to entry for entrepreneurs otherwise raring to start bioinformatic businesses.

Secondly, due to the many thorny features of Genomics data, lawmakers will need to pass fresh legislation and healthcare agencies will need to draft new rules to protect it. It is the collective responsibility of our civil institutions that such protections do not curb the entrepreneurial will to use this data to improve the public wellbeing.

Customer Acquisition:

One recent NIH Genome Wide Association Study (GWAS) concluded that 90% of its participants were willing to volunteer information for secondary research while others observed that not only were participants willing to share information but were surprised this wasn’t being done already.

The literature overall seems to suggest that patients are keen to share personal data with the scientific community for helping unravel the mysteries of disease. Promising!

However, bear in mind, many issues affecting the public interest, especially in the US are uncontroversial until they are not. Climate Change and Vaccines are very cautionary examples of this phenomenon. Academics are in complete consensus over the safety GMO seeds that many believe could end famine in third world countries. Yet we have overzealous activists who have relentlessly agitated against their adoption by citing pernicious side effects.

The collection of genomic data could be similarly stymied by self appointed ombudsman and partisans. The benefits of deciphering this data are too profound and far reaching for it to fall prey to political controversies that have mired other issues affecting the public interest.

China:

Police in the United Kingdom started to build a national DNA database in 95 and US soon followed in 98. By 2006, with the culmination of the Human Genome project in 2003, the US had compiled records for about 500,000 of its citizens whereas the UK had compiled approximately 100,000 fewer entries. China did not have any records to analyze until 2004.

Fast forward to 2017 and China’s DNA database is 60 million records strong, the US has 15 million whereas the UK has approximately 8 million as can be seen in the WSJ chart below.

Experts believe that the national trendlines for Citizen Genomes would mirror those for DNA records as the Chinese public has been found to give a short shrift to privacy concerns and their government is willing to pass whatever measures necessary to fulfill its objectives: one of which is to incubate global Genetics companies,

Chinese Genomics companies therefore will be able to lay their hands on many more troves of data to train bioinformatics algorithms with, relative to their western counterparts who will be relegated to second place because they have to play by a much more stringent set of privacy rules.

Is the world comfortable with Chinese companies acquiring their pre-eminence by showing tone deafness to ethical concerns raised by bodies of western scholars and nation states? I do not have the answers to the question but leaders of industry, government and academia must work together to find them.

Technical Weaknesses:

These are the most superable hurdles to building fair, active and large Genomics Markets but just to list a few issues that currently plague the Platforms the kind Helix is building, I wanted to reference their

• Tools that sequence only 2% of the Genome. We must increase coverage to the extent possible as the unsequenced data might contain the rosetta stone, the ciphers to the most inscrutable terminal and chronic illnesses
• These same tools do not sequence the breadth and width of the Human Genome accurately. Proprietors of the Genomics Platforms must work with their partners to eliminate the inconsistency.

In conclusion, I would like to pose the following broad questions for you the reader:

• If public opinion turns against building Genomic Databases, should the shift in attitude guide public policy?
• Should the US, the UK simplify the web of regulations that Western Genomics companies must abide by to build their Platforms, to allow them to be globally competitive?
• Can companies guarantee impenetrable security of the Genomic Data shared with them by consumers? Can they claim when this data is shared after earning consumer consent….. with third parties…… after de-identification…… it can never be re-identified? Should they be expected to?
• Is absolute privacy an ideal we should aspire to when it comes to Healthcare Records even if it’s at the expense of medical progress?

To share your points of View please leave a comment below.