From cure to prevention: How genetic research holds the key to one of medicine’s biggest breakthroughs

The biotechnology industry is ushering in a new era, one that is both very exciting and potentially great for human health. Researchers are creating a vast array of treatments based on tiny strands of molecules and genetic patterns. Yet even though these disruptive advances carry extraordinary promise, many people still don’t understand the cutting-edge science involved. And for some there still seems to be a fear that if you’re not at least dipping your toe in the genetic waters, you’re not really a real scientist. In order to help explain the spirit behind this pioneering progress, I turn to a friend who studied at Cornell University before embarking on an impressive career in the science and business world: Dr. Helen Stokes-Lampard, chief executive of the Royal College of General Practitioners in London.

What are the basics of genetic research?

Research has always been highly technical, but in recent years DNA sequencing has become cheaper and faster, making it much easier to pinpoint the location of genetic mutations. This development greatly expands our view of how genes operate and strengthens the link between genetic variations and the development of disease. Researchers are now able to go after the causes of disease in far more precise ways than they ever have before. As a result, some people now consider genetic research a part of clinical medicine, much the same way they now talk about cancer or cardiovascular disease as being caused by genes.

What’s the best evidence yet that the theory of genetic explanations for disease is right?

Even though the science is still in its infancy, there is huge enthusiasm for clinical genetic testing. Patients are increasingly being asked to take on responsibility for their own health by not only accepting a blood test, but also receiving a genetic test that will tell them whether their specific type of cancer is likely to come back. We are at the beginning of the genetic revolution. There are currently between 500,000 and 700,000 Americans with some form of cancer, many of whom have gone through much grief waiting for the diagnosis. Through the eyes of a patient and a doctor, there is nothing more exciting than the prospect of using a new treatment to fight a cancer — it has the potential to change so many lives. It can also save a huge amount of money by helping to avoid the further costly, time-consuming and annoying treatment of cancer.

But are we at the point yet where we can truly predict disease risk by knowing a person’s specific DNA profile?

A more nuanced understanding of the human genome is coming slowly, but right now a good clue to how a person will respond to a treatment comes from two different sources. First, we know the genetic structure of a person’s genome; second, we can guess at what each of these components is associated with, which is based on the way that genes interact with each other. It is very much a slow process, but work is advancing very rapidly. An existing trial is underway in the United States which tracks the effect of therapy in a single cancer patient over time. It is tracking the effect of chemotherapy and radiotherapy over time by measuring how the body’s immune system responds to the treatment — in other words, keeping track of the blood work that the patient gets after the treatment has stopped. Currently, we have no idea if the treatment actually worked or not, but by measuring this changing response, we can gain a clearer picture. The type of therapy may have changed, but the response of the body’s immune system remained the same, making it possible to explain how the patient’s cancer progressed.

So are people wondering whether they should do gene-testing themselves?

Most doctors and patients would agree that there are far too many preventable diseases in this world to be taking risks with their health. Some people are doing it out of curiosity or curiosity alone. But the risks are really small if the results are given to a doctor, and they are likely to be little to no difference to the way you currently live your life. So I wouldn’t advise a lot of people to have such an expensive and invasive procedure. It’s not worth it.

To read the full Q&A, see Related Articles.

Leave a Comment