Jennifer Kherani, MD, Summus Medical Director

Is DNA genetic testing worth it?

What can you learn from genetic testing?

By Jennifer Kherani, MD | April 25, 2017

In 2003, the Human Genome Project (HGP) completed sequencing the human genome. Since then, this fascinating and rapidly-evolving field has ignited imaginations with the possibility of unlocking our personal blueprints, complete with individualized disease predictability and curative remedy. There is a wealth of information to be unraveled from our chromosomes; yet, as Albert Einstein once wisely remarked, ‘information is not knowledge’.

Commercial genetic testing has quickly increased in popularity and availability. Many assume that sending away a saliva or blood sample will deliver everything from your ancestry to your comprehensive disease risk. And while I have no doubt that the promise of genetics is profound, we must remember that our knowledge remains vastly incomplete at this time.

Disease risk and development is affected by many factors, not just genetics. Some diseases, such as sickle cell anemia and cystic fibrosis, are the product of known and testable genetic mutations. Likewise, there are some inheritable forms of cancer that may be revealed by genetic testing. However, these are the exceptions. Many forms of cancer, cardiovascular disease, and diabetes (among other maladies) have multiple unknown genes and genetic interactions that influence their development. Disease formation is a result of a combination of factors, rooted in genetics and fine-tuned through the lens of environment, social circumstance, and lifestyle choices. This complicated interplay remains a large black box.

Genetic testing provides us with a great deal of information, the majority of which we don’t yet know what to do with. Genetic tests yield a plethora of information, which, (at this stage), may translate to doubt and anxiety rather than actionable knowledge. Information obtained through sequencing remains incomplete but often leads to individuals drawing (potentially) inappropriate conclusions. A genetic predisposition to disease is not a diagnosis. While the HGP completed sequencing, they did so within the confines of contemporary technology. Approximately 1% of the gene-containing portion of the human genome remains undetectable. It sounds like a small number. However, when you consider that any two humans are 99.9% genetically identical, you can begin to appreciate what profound effects small numbers can have. Technology will eventually deliver greater understanding, but we’re not there yet. 

Genetic data ownership remains unchartered territory. Private companies have filed thousands of patent applications on human genetic technology and information gathering. Where in this abyss does your most personal information lie? There are laws to protect us from prejudice by healthcare insurance companies for preexisting conditions based upon our genome, but what about things like disability or life insurance policies and our ability to purchase them? Our curiosity might just lead to information gathering that will ultimately hurt us if we don’t protect it. Currently, we don’t know what we don’t know, which should breed caution.

I believe genetics will eventually deliver what it promises. For now, though, collecting oral history on family health data and disease patterns should remain the focus of our information gathering. Blending this with an intelligent conversation with a physician or genetic counselor will lead to smart testing in the present and allow for richer context when deciphering genetic components in the future.

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