Genetic testing leaves more patients living in limbo

The Wall Street Journal ran an article today called “GeneticTesting Leaves More Patients Living in Limbo.” This issue was nowhere to be found on the New York Times website or the Washington Post front page.

The issue revolves around the genetic testing doctors do to see if a patient has a higher chance of having a disease, like cystic fibrosis. The issue is that while doctors confirm that the patients are able to get it, it’s unknown whether they will or not. Patients sit around, fearing even the smallest cough is a symptom. Doctors are debating if they should begin treatments for diseases that patients haven’t shown symptoms for or not (in order to prevent the onset).

The article goes in depth, talking to one family with a little girl who has been going to the doctor for checkups every year for the CF potential they found in her genes as a baby. The mother is interviewed, and she brings up a good point: while they are glad to know of the potential of the disease so they can look for symptoms, what do they do in the meantime other than fear what hasn’t happened yet?

The article looks at published materials from France on a man who, for two decades, has been going to the doctor every year to find out if symptoms of Pompe disease has surfaced. He lives a normal life, and still has shown no signs.

The WSJ does a good job making the reader question if genetic testing should even be done, or maybe, should the parents/patients be told the results at such a young age? Being constantly on the lookout for a disease that may appear is not only stressful, but can harm the kids if their parents don’t allow them a normal life for fear of tempting the disease.

What this article failed to do is talk about cost: to have to endure test after test, year after year, what kind of cost does the family or patient have to worry about? Are there people who have chosen to skip the testing and wait for symptoms of a disease because they can’t afford to go to the  doctor so much? This is part of the bigger picture. What does it cost to prevent something that might not happen?

I also wish that the article interviewed people who chose not to go through with the constant testing. The journalist did mention that there hasn’t been enough data gathered to find out what happens to CRMS patients over time. This is what should have been looked into. Not only that, but for diseases that can’t be cured, like CF, why does the patient need to worry about ‘preventing’ the disease? 

There are more ways that the author of this piece can go into more detail, and I hope that they do. This is a matter that concerns anyone looking to have kids, or is afraid of hereditary disorders. As one of the latter, it would be good to know more about this situation.