Are we witnessing a new era of personalized medicine, and how far are we ready to go?

Anela Zorlak

The idea took root at the beginning of the 20th century with a debate during a science congress in Sicily on the possibility of combining two DNAs with the aim of  getting to a “recombinant DNA”. Even then it was clear what kind of danger/blessing we were talking about and what it could lead to. What about predicting the future from our genes – changing fate through genetic manipulation? Should we be worried about the future or the future of the future!?

Politicians pushed eugenic policy /Winston Churchill/, and giants in statistics and genetics /Francis Galton/ studied it. While the horrific Nazi crimes  destroyed the field’s reputation, eugenics adapted and survived, downplaying overt links to race and forced birth control, and emphasizing individual freedom and the importance of the welfare state in order to maximize human potential by means other than pure heredity.

Although the political decline of eugenics continued, modern science has shown us that the whole edifice is built on shaky foundations: most traits and diseases which we might want to know how to prevent are not that simple after all, but represent an interaction of dozens of genes that also correlate with external factors in giving the final product.

We are taught in school that eye color has a very simple pattern of inheritance; it is non-deterministically predicted with about 16 genes. Height is explained by about 10,000 gene variants.

Many trials, the pushing of boundaries in genetics, and everyday curiosity are all buzzing about CRISPR, a new technology that allows scientists to easily edit genetic data. This development will create a fundamental change of our relationship with genetically determined diseases. In the future, we may be able to do more than treat the symptoms of a genetic disease – instead, we may be able to strike directly at the DNA that causes diseases like muscular dystrophy and sickle cell disease, selection of the “best embryo” before implementation – WHICH WE ARE ALREADY DOING!

But the biggest impact CRISPR will have on most people’s lives won’t be treating genetic diseases. It’s much bigger: expanding our horizons of discovery, which could lead to advances we can’t even imagine.

Undirected scientific curiosity can lead to unexpected discoveries that improve our lives. CRISPR is able to dramatically accelerate biological discoveries by “democratizing” gene editing. The tool gives scientists the ability to gain new insights into how life works, for example, by testing how genes function in health and in disease. The application of similar fundamental biological discoveries has formed the cornerstone of almost every advance in human health, from new cancer drugs to cutting-edge cholesterol therapies.

Gene-editing technology has been around for a while, but earlier tools required relatively great effort, so few researchers engaged in these experiments. CRISPR-based editing is fast and simple, and is now being used in all kinds of contexts to ask countless questions in all spheres of biology.

Today, using CRISPR, we can make changes to genomic DNA and better understand what each element of the genome does. And what if some of that data leads to the next big unexpected breakthrough? If we move away from the seemingly scary CRISPR, we open the door to other techniques that are used every day in diagnostics with the aim of predicting disease. An increasing number of genetic tests are available to us, to the extent that sampling kits come to our home addresses, we take swabs ourselves and share our data “just like that”.

When you decide on this kind of test for the sake of “future risk”, you inevitably ask yourself this question: “What kind of future risk am I ready to bear?”.

Perhaps it is strange and unbelievable that the future is, in fact, today. But it is, if we are guided by genetics and a personalized approach.

I will be free to say that we have certainly entered the era of personalized approach where gene analysis will help us keep up, even before diagnosing a rare disease. For a long time now, many things in the world of genetics have not been a matter of technique, but of ETHICS.


Mr. Anela Zorlak, geneticist