ASK DOCTOR K: Progress in genetics will lead to better diagnosis

Dr. Anthony Komaroff/Universal Uclick

In last week's column, a reader asked whether she should be tested for genes linked to Alzheimer's disease. Today, I thought I'd give you my view on the larger question: Will studies of our genes change the practice of medicine and improve our lives?

My answer: During my career, progress in human genetics has been greater than virtually anyone imagined. However, human genetics also has turned out to be much more complicated than people imagined. As a result, we have not moved as rapidly as we had hoped in changing medical practice.

I graduated from medical school in the late 1960s. We knew what human genes were made of -- DNA -- and we were beginning to understand how genes work. We had even identified a handful of genes that were linked to specific diseases. We assumed that disease resulted from an abnormality in the structure of a gene.

If I had asked any biologist on the day I graduated, Will we ever know how many genes we have, and the exact structure of each gene? I'll bet the answer would have been: Not in my lifetime, or my children's lifetime.

They would have been wrong. Today we do know those answers. Indeed, some diseases are caused by an abnormality in the structure of genes. In fact, sometimes it is very simple: one particular change at one particular spot in just one particular gene leads to a specific disease. Sickle cell anemia is an example.

Unfortunately, with most diseases it's far from that simple. The first complexity: Most diseases are influenced by the structure of multiple genes, not just one. Examples are diabetes and high blood pressure.

The second complexity: Many diseases are explained not by an abnormal gene structure, but by whether genes are properly turned on or off. Most cancers fall into this category.

What do I mean by that? Every cell in our body has the same set of genes. Yet, a cell in our eye that sees light is different from a cell in our stomach that makes acid. Why? Because different genes are turned on in each type of cell.

Similarly, if a gene with a normal structure is not properly turned on or off, a cell can malfunction -- it can become diseased. Whether a gene is turned on properly is proving to be a more important cause of disease than we once imagined.

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ASK DOCTOR K: Progress in genetics will lead to better diagnosis