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The Patient Who Knew Too Much

1 million people have tested their DNA, but what should they do with the information?

On a recent tweet, that I’m subscribed to, it was noted that in 2013, the one millionth person tested their DNA. The whole issue of testing DNA is still very controversial simply because we are not sure what to do with a lot of the information. The simple fact that it is now reasonably priced to have your DNA sequenced, is a huge step forward from the first sequencing of the human genome approximately a decade ago. The key now is to fully understand what all the parts of the human genome are responsible for and thus better diagnose disease and treat it.

A full understanding of our genetic code in terms of function, is a project that is far greater than the “just” getter the order of the molecules that make up our DNA. The equivalent case would be writing down all of the words that exist in all of the books in a huge library, which is definitely a huge task. The process of understanding our genome is equivalent to looking at all of these words and working backwards to understand what these words meant in their original order and context. This is clearly a far greater job.

As difficult as the second task may be, technology will continue to advance at an exponential rate and make it possible to analyze unimaginable amounts of data in order to extract practical meaning from all of these genetic codes. It occurred to me today that in the process of extracting such meaning for improving our health, we may discover things that we truly would prefer not knowing.

There has already been great debate about the value of knowing our genetic propensity for certain diseases. Does a person want to know that they have an 80% likelihood of developing Alzheimer’s disease by the time they are 70? Does a person want to know this when they are 20? Does a person want to know this when they are 65? Each person has an individual preference and such preferences will need to be respected, as genetic information becomes so readily available that it will be hard to avoid learning of these forecasts.

But I was thinking of another possibility which is by no means trivial. In the course of analyzing a person’s DNA, it is very likely that this person will discover facts about their own lineage that are very problematic. For example, the most obvious potential problem is discovering that your parents are not your biological parents. This may be less of an issue or even no issue at all if the child is adopted and is aware of it. However, if as far as anyone knows, the person whose DNA has been tested is supposed to be the genetic child of their parents, what happens when the blood tests show otherwise?

It is possible already today to do paternity testing on any individual. But the vast majority of people never do such testing. When it becomes a standard of care that every person has a full genetic analysis, just as readily as they have their blood pressure checked, such discoveries will become commonplace. I imagine that there will be an option to formally exclude any testing that may speak to paternity and/or maternity. However, curiosity is what drives us to the stars and to the depths of the oceans. There is a very good chance that most people will be too intrigued by the potential surprise and will allow for this information to be generated.

If the estimates for marital infidelity are correct, there may be a tremendous number of people out there who will discover information that could tear their social fabric apart. Issues of inheritance may go from being straightforward to decades of courtroom battles. A husband and wife may discover a most frightening fact that they are, in actuality, closely related if not even brother and sister. And what happens if they discover this after having been married for 60 years, while celebrating with their children, grandchildren and great-grandchildren. Do you tell them all? What happens when there are religious overtones to such issues? Does an entire family tree become illegitimate in the eyes of one’s community?

Trying to mask this information will be difficult. Any gene may be a potential betrayer of the true genetic origin of the individual. If the physician or geneticist who works with the patient indicates that there is no way that the patient could have such a gene for bone structure if in fact his parents are his biological parents, then the cat’s out of the bag in any case.

One of the recurring themes in my blog posts is that technology presents us with new challenges at the same time that it allows us to solve existing problems. The other “problem” with technology is that it is honest. Painfully honest. It does not inherently have the ability to consider the sensitivities of the humans using it. It may well be that one of the key functions of humans even as technology becomes more and more powerful and far-reaching, will be to mete out the information that the new technology presents to us. In some ways, which are definitely very paternalistic, humans’ roles may be to keep us in the dark from those things that we do not want to know about in the first place.

Knowledge is power. But any power, unchecked, can destroy. We need to be careful enough, smart enough and sensitive enough to make sure that the power of technology continues to help rather than destroy.

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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