Genomics & the Cloud: What’s Next?

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Personalized Gene Editing

One of the biggest advancements in recent years is CRISPR, a method of editing genes that has made editing individual genes much easier and cheaper than in the past. It can be used to fight world hunger by making plants produce more fruit or become more resistant to anything from weather, insects, or blight, and even edit a person’s genes. It’s not quite at the stage where it’s ready for humans, but it’s close. 

Now, combine an easy way to edit genes with big data. First, the patient’s gene sequence is uploaded to the cloud. This lets a computer comb through and identify what could be changed with CRISPR, to either reduce the chance for disease or eliminate it entirely could be in our near future. It seems like something out of a sci-fi movie, but it could very soon be a reality. Using big data to essentially crowdsource the solution to medical problems is not new, however.

Cancer

Using gene sequencing combined with big data, researchers were able to identify genetic mutations that drive specific cancers. They also found biomarkers that predict risk for disease and how well a person will respond to a specific treatment. For example, researchers are already starting clinical trials to treat melanoma patients with a mutation in the BRAF gene, thanks to a big data discovery.

In another study reported by Medical News Today, researchers looked to suppressor genes in the cells of 2,218 tumors from 12 different types of cancer, including breast, lung, colorectal, ovarian, and brain cancers. 

"The model not only enabled the team to calculate the relative proportions of healthy and cancerous cells in each tumor, making it easier to determine the presence of tumor suppressor genes in the cells," they reported, "but it also revealed the distinct "DNA footprint" of tumor suppressor genes. This allowed them to distinguish these genes from non-harmful gene mutations." 

In total, 96 gene deletions were found. Of those, 43 were tumor suppressor genes, and 27 of those were previously unknown. 

This new information, combined with the unique genetic makeup of a new patient’s tumor, could lead to better personalized treatment, much like the CRISPR example above.

Privacy Concerns

However, for all the good genomics and big data can do, there’s a dark side: data privacy. There’s the obvious HIPAA concerns, and while there are companies doing that specialize in keeping bioinformatics safe in the cloud, a breach could be devastating.  

The problem, of course, is it does not take a breach for information to be shared. For example, 23andMe, a popular genetic sequencing service, is well known for selling data. The testing kits are not their true revenue stream; selling data to other testing companies is. And while the companies do not own your DNA, privacy policies for Ancestry.com in 2017 had a clause asserting they could use your DNA however they want. 

The data is supposed to be de-identified, but since it is your DNA, it could, in theory, still be used to re-identify you, Maryville University points out. Even if it’s not your DNA, but a relative’s DNA, you might be found. This was how the Golden State Killer case, also known as the East Area Rapist and Visalia Ransacker, was cracked earlier this year – a relative’s uploaded DNA was close enough to old samples to lead authorities right to the suspect’s door. 

Plus, your DNA could be used for identity theft, especially as technology marches on. As we look more towards biometrics to identify someone, your very genes could betray your bank account. Or, as in the 1997 movie Gattaca, certain diseases or conditions could be targeted by risk insurers or employers, preventing you from becoming an astronaut or whatever other dream job you might have. While poor eyesight already disqualifies you from being a fighter pilot, in the future, companies many only want the best of the best of the genetic pool working for them. Don’t expect Jude Law’s flawless DNA to help you out, either. 

Both 23andMe and Ancestry.com have since revised their privacy policies, but the damage could already be done for previous customers. Other companies have your data, and they might still obtain it – the companies just require your written consent now, and that’s half of their business model. However, there are still hackers to think of: In June, a security researcher accessed tens of millions of account details for 92 million MyHeritage customers. While this did not include DNA information, it’s not a far leap to say that data could potentially be found in a breach and subsequently leaked. 

Genomics, the cloud, and big data all make sense together and will probably lead to more breakthroughs in the months and years to come as data is carefully sifted through by ever-more-powerful computers. Personalized medicine and better diagnoses are the likely results. However, there are still major privacy concerns to address, and the danger of leaked DNA data could be worse than we can imagine.

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About the Author

Avery Phillips is a unicorn of a human being who loves all things relating to people and their entrepreneurial spirits. Comment down below or tweet her @a_taylorian.