Data in the DNA

Imagine a scientific company whose research yields 20 terabytes of raw data per week.

That’s 20 billion bytes, week in and week out, and this is just one company.

In a single year, the company generates more than a petabyte of raw digital data.

And data from every year must be archived, arranged, organized, backed up, and made accessible for queries. That amount of data requires enormous storage capacity.

Moreover, scientists who work at the company need fast access to all that digital information, so they can run data analytics, compare results, produce new experiments, and generate reports.

This is the daily business of genetic research and genomics, and it is paving the way for breakthroughs in disease detection, treatment, and eradication.

Making the data hum

So, about that scientific data: To accommodate the science of genomics, data storage systems have to be state of the art, fast, scalable computational systems running sophisticated software and securing and managing vast repositories of bits and bytes.

The company I work for builds these sophisticated systems, but it’s those scientists who make them hum.

Which leads to breakthroughs in understanding how genes—and their mutations—shape every aspect of what makes us human. Important stuff.

DNA research has been ongoing since the 1970s, triggering breakthroughs in recombinant DNA technology, human embryonic stem cell research, and cloning.

The first full sequencing of the human genome, an international collaborative project referred to as the Human Genome Project, took 13 years, finishing in 2003.

Personalized medicine

Today, with dramatically faster computer and storage systems, scientists can sequence an individual’s genome in about 26 hours. This has led to the promise of specialized treatments for insidious diseases, some that are extremely rare.

Our genetic composition—our genome—is what decides our hair and eye color, our height, skin tone, and other physical features.

Our genome can also determine whether we get sick, how we react to medications, and how well we can recover from disease.

Modern science is creating a new age of personalized medicine. By studying the genome of a patient, doctors can predict what diseases might develop in the future.

For patients who are already ill, genomics is enabling doctors to target specific treatments. We’re seeing this with diseases such as cancer, cystic fibrosis, sickle cell disease, STDs, and other genetic issues.

Gene editing

Now, scientists are pursuing a new avenue of genomics: gene editing. Through a technology called CRISPR/Cas9, patients might literally have the DNA of unhealthy cells restored to their normal state. This would, in theory, eradicate disease at a fundamental level—within our molecules.

So, how does CRISPR/Cas9 work? This is a gross over-simplification, but basically it breaks apart, at a certain location, the double helix of targeted DNA within a cell. It does this by inserting a specialized enzyme, called a Cas9, that binds to that DNA location in the cell.

Because of a difference in polarity between the binding enzyme and the DNA components (called nucleotides), the enzyme effectively pulls apart (cuts) the DNA strand at that location. At this point, the gene is disabled.

But wait, there’s more. The rest of the process involves inserting a healthy copy of the DNA sequence at the point where the cut occurred. The cell is able to repair itself because the healthy copy matches up perfectly.

Right now, the CRISPR/Cas9 technology is being tested in cultured cells in labs and in embryos harvested from, and implanted back into, lab mice.

Technology like CRISPR/Cas9 has a way of developing rapidly over time, and it’s not hard to imagine the many potential applications.

Deciding the limits

With such great power, a plethora of possible ethical issues arises. Just because we can do it, should we do it? Is changing the genetic makeup of a living organism, particularly a human being, effectively playing god?

Will the technology be used not only to eradicate disease, but also to create designer babies?

Which applications will be allowed by law, and which will be banned?

Will every human being have access to the technology, or will it be so expensive that it will only be available to the wealthy?

And if the wealthy can afford it, what’s to stop malevolent forces from applying the technology unethically, or even in harmful ways?

Most importantly, could the technology effectively change the course of human evolution? If all disease were eradicated, how would we control population and sustain our world?

Daunting stuff, indeed.

In response, the National Academy of Science is launching an initiative to tackle these questions. From the initiative, the organizations hopes to balance “potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies.”

As a species, we clearly must ensure that CRISPR/Cas9 technology is used appropriately and that all the ethical and moral implications are highlighted, debated, and, hopefully, settled on worldwide.

Science and technology can do a lot, but mankind has to decide what the limits should be.