Why Total Reporting of Genetic Results Is a Bad Idea

http://blogs.scientificamerican.com/observations/2013/03/21/why-total-reporting-of-genetic-results-is-a-bad-idea/

Laboratories that sequence an individual’s entire genome should limit the results they report to clinicians and their patients based on certain usability criteria, according to the first set of guidelines on the subject from the American College of Medical Genetics (ACMG). Geneticists simply don’t know what to make of most of the information that they find and it’s much too easy to misinterpret many of the results.

The ACMG’s advice is not as contradictory as it sounds—and could probably apply to a lot of other medical situations. Whenever a doctor asks me or a loved one to undergo any kind of diagnostic test, my first response is usually “What are we going to do with the results?” Mostly, I just want to get an idea of what kind of treatment the physician is likely to recommend based on the test findings. After all, if the recommended course of action is something that I don’t intend to follow, then what is the point of getting the test in the first place?

For example, if a pregnant woman has already decided she could never get an abortion, I don’t think it makes a lot of sense in most cases for her to agree to an amniocentesis, in which a needle is inserted into her womb to withdraw some amniotic fluid for genetic testing. The procedure itself has a small risk of triggering a miscarriage, so why take chances to get information about a possible abnormality? She’ll find out soon enough—after the baby is born—if the child is healthy or needs medical attention.

But there’s another reason to ask “What are we doing with the results?” whenever a clinician wants “just to run a few tests.” Sometimes, in the search for one thing, you may discover something else. Such so-called incidental findings can be quite momentous—such as when an x ray for a cracked rib reveals a shadow on the lung that’s suggestive of cancer. Or they can lead to a lot of anxiety for no good reason.