If you could take a genetic test as an infant and prevent diseases from occurring later in life, would you? If the costs of testing and follow-up treatment were low enough I think almost everyone I know would answer yes to this question. Indeed, if the tests and treatments were offered free of charge by government or a health care provider, you could argue that denying the test could be an unethical act of “willful blindness.” As genetic testing gets more and more accurate, these ethical questions become much more than classroom debate topics, they become real issues.
For me, the question of genetic testing has special significance because I live with chronic back pain caused from a disease that many experts in the field believe has a genetic component. While researchers have not isolated the gene that caused the development of my Scheuermann’s disease, multiple case studies of monozygotic twins with the disease suggest a genetic linkage.
If a Scheuermann disease-causing gene were to be isolated, then early genetic testing may offer huge rewards to those who find out they have the gene early in life. Special spinal braces are often indicated for Scheuermann’s sufferers because the disease causes a curving of the spine. One must use these braces early in life, usually as a teenager; because once the spine is fully developed they lose effectiveness. Early diagnosis is important for Scheuermann’s disease just like many other chronic diseases including heart disease, and type 1 diabetes to name a few. There are treatments for all of these diseases I just mentioned; the key is knowing early enough to implement them.
The knowledge that you are genetically predisposed to a chronic disease can be a lot to handle. It can have a number of far-reaching implications. Genetic testing offers the possibility of knowing whether or not you could pass your disease on to your children. This kind of knowledge can be hard to process but that does not, in my opinion, mean that we should ignore it. Knowledge of our diseases gives us power over them, keeping us from falling into the role of “victim”.
For me, the knowledge that I have Scheuermann’s disease means a number of things. It means I have to swim at least an hour a day to keep my pain in check. It means I have to do a series of stretches everyday to keep my core strong and to keep my tight hamstrings, an unusual symptom of the disease, loose. Swimming, stretching, and a top-quality mattress enable me to control my disease and live a happy, fulfilling, and hopefully long life.
Blog post by Jon deKay