Barney was right! Everyone IS special

Throughout history, humankind has had an inherent appreciation for genetics. People could see for themselves that if both parents were tall, the children also tended to be tall. And of course this applied to all types of physical features, mannerisms, habits and skill sets. You will still very often hear someone say that “well, of course he is so good at math. His father is a professor of mathematics at the University”.

Quantifying the way in which our genetic code works has been far more difficult. Ideally, we would be able to scan the genetic code of a person and know everything that is  encoded for that person. As it turns out, far more than we appreciate [and like] is present somewhere in our DNA. It is in the last few years that we finally have the tools to truly dissect human DNA on a person by person scale, and learn a tremendous amount about that person and health/disease in general.

There are famous examples of mutations [changes in our DNA] that have a clear benefit. Sickle cell anemia is a known “abnormality” that can cause a series of health problems. However, the same genetic trait that leads to a change in the shape of the red blood cells, also makes these same cells more resistant to malaria. Until the advent of modern medicine, sickle cell anemia could cause serious and even life-threatening complications. So, in the developed world where malaria is relatively rare, sickle cell anemia is effectively only a risk factor for health problems. However, for people still living in malaria endemic areas, this genetic trait has a clear benefit. So, it is not enough just to identify a genetic trait, but you must consider that trait within geographical realities in order to fully appreciate its purpose.

In the last few years it has become possible [both technically and financially] to scan the genetic code of thousands of people within a relatively short time. If multiple sites are all working together towards a common goal of building a universal and shared database of human genetic information, then we may succeed in building up a collection of the DNA codes of millions if not billions of people within the next few years. Remember, that every year brings with it technological advances that further speed the analysis of human DNA and reduce the cost of the procedure.

It won’t be long before DNA testing is available in every hospital as part of a standard set of tests for specific illnesses. Imagine in the near future, a patient presenting with chest pain and having his or her DNA sequenced in order to see if they have genetic markers for high risk versus low risk cardiac disease. A tremendous number of people may soon be spared invasive, painful and even risky procedures based on their genetic makeup. The potential of such DNA related technologies is astounding.

In the following article, the author discusses some amazing examples of genetic traits that cause no harm but are in fact highly protective against certain diseases. About a decade ago, it was discovered that a particular gene, called PCSK9, was not working in some otherwise perfectly healthy people. As it turns out, these same people had almost no “bad cholesterol” in their blood. This finding was immediately picked up by the various pharmaceutical companies and experiments began to create drugs that could block this gene.

Let me already say that this whole process really is not as simple as it sounds. It might be that these same people, with a dysfunctional PCSK9, do have a higher risk for other diseases. But you would need to track them over long periods of time to know this. It could also be that this mutation only reduces bad cholesterol, if it is in combination with other altered parts of the DNA. Then, you have to consider the fact that a medication that would shut this gene down, may have side effects for a whole variety of reasons unrelated to its activity on the gene. in decades from now, the technology will exist to create drugs at the push of a button based on the unique genetic makeup of a person. When this technology becomes commonplace, researchers and doctors will legitimately wonder how present day physicians ever managed to help anybody using the “primitive” technologies we have now.

The day will also come when the world’s day-to-day health and medical information is recorded in an EMR, that can share its information with common analysis systems. All of this data will be compared to the DNA structures of the billions of people on this planet. I personally would be surprised if this future scenario would take longer than 50 years to come to pass. Once this piece of science fiction becomes real science, we will likely be able to cure, or at least intelligently manage, almost every disease of humankind.

I will just mention one point, not to begin a discussion on it, but just to leave it as an afterthought. When we are able to scan our DNA for almost every disease known, there will be people who use this to, at least, try and create superhuman babies. More so, I would not be surprised if specialized sperm banks pop up, which contain samples from people whose DNA naturally is highly resistant to disease, as well as being associated with high intelligence and other features that are considered positive. It is inevitable, at least as history teaches us,  for a technology that can help humankind, to be used in a negative fashion. I would not dare get into an ethical debate related to this whole issue. At least, let’s wait until the first such sperm bank opens.

Some of the present projects being run, sound no less ambitious than the Manhattan project. An effort known as the Resilience Project, is looking for one million healthy people over the age of 40 years, who, based on their DNA, should have suffered from debilitating childhood diseases. Understanding why these million people are nevertheless healthy, will provide a tremendous amount of information about how diseases happen and hopefully about how to combat them even when they are genetically coded to occur. When I was a medical student, that despite all my gray hair was still only three decades ago, such technology was unimaginable. But soon, in the same way that we already take the amazing technologies of smart phones for granted, we will soon also take it for granted how we benefit from such medical research.

My son once said to me that the only difference between nature and a miracle is frequency. When something astonishing happens only once in history, especially if it helps humankind, we call it a miracle. But when something becomes commonplace, we become spoiled and treat it just as part of the natural world around us. I admit that it’s not good to spoil your children too much. But when it comes to their basic health, I am willing to go overboard.

Thanks for listening

About the Author
Dr. Nahum Kovalski received his bachelor's of science in computer science and his medical degree in Canada. He came to Israel in 1991 and married his wife of 22 years in 1992. He has 3 amazing children and has lived in Jerusalem since making Aliyah. Dr. Kovalski was with TEREM Emergency Medical Services for 21 years until June of 2014, and is now a private consultant on medicine and technology.
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