The last several years have seen increased concern about the phenomenon of sudden unexpected death in young people, particularly athletes. Nearly all such tragedies garner significant media attention, and lead to recurring understandable questions as to how such terrible events might be prevented. Presuming that such cases result from cardiac conditions that might be detectable through the use of non-invasive tests, it seems obvious to some that we should make a major effort to identify young athletes at risk through screening, allowing one to (presumably) prevent a subsequent catastrophe. The topic of cardiac screening is, in fact, quite controversial. Viewed from the point of view of the grieving parent, pre-participation screening seems to be an obviously beneficial measure. From a public health point of view, however, it is not as clear. Discussion tends to focus on issues of sensitivity, specificity, false positive rates and predictive values, as well as on the question of whether screening programs are likely to be cost effective. There has also been concern about the adequacy of the current medical infrastructure, as well as inevitable medico-legal implications.

One aspect that has perhaps not been discussed as extensively is the possible unintended consequences that might well result from the institution of screening programs. Well-intentioned people can do great harm: this is why I am not permitted to work in our department's payroll office. Cost-effectiveness calculations tend to focus on outcomes that can be measured and to which can assign a cost estimate. However, there are potential consequences that are harder to measure and to which it would be impossible to assign a monetary value, but which are predictable and important.

I was impressed by Frank Cecchin's recent blog entry, in which he describes the distraught family of the tearful teenager whose soccer career had been put on hold due to a borderline ECG, in the setting of a near-syncope episode and a class II long QT mutation. While it is likely that his patient came to attention due to her near-syncope episode, near-syncope and syncope are, of course, quite common in the teenaged population, and she could easily have come to attention due to ECG screening. I do not know how long Dr. Cecchin spent with this family, but based on his careful analysis of the different treatment options, I suspect he spent hours. It is not clear that he was able to give the family a firm diagnosis, and it is likely that he left them with a great deal of uncertainty. Perhaps at some point in the future the patient and the family can be given a clean bill of health, but not at this time. Even if allowed the return to physical exertion, the concept of “shared responsibility” means that they will understand that there is a lot of uncertainty concerning the future of this young lady, with which she and her family now have to live. So, unintended consequence #1: ECG screening of asymptomatic individuals will identify patient after patient in the same situation as Dr. Cecchin's patient. This will lead to a lot of work on the part of those of us in the field, of course, but more important is the anxiety and uncertainty that will be created on the part of the patient and family. It will also inevitably result in a certain number of patients incorrectly diagnosed with long QT syndrome or another condition, incorrectly labeled as having heart disease, and needlessly restricted from sports participation.

An interesting likely outcome of screening is the probable effect on athletic programs in the U.S. Currently most children in the country must have a “sports physical” before they are allowed to participate in organized sports. This does not currently include noninvasive cardiology testing. It is fairly certain that as soon as a national cardiology society releases guidelines recommending ECG screening prior to sports participation, this will be considered mandatory by schools and other organizations, and children will not be allowed to participate until they have undergone screening. Mostly this will be driven by medico-legal concerns. So, unintended consequence #2: In addition to those excluded from sports participation due to borderline findings on their cardiac evaluation, programs will likely also exclude those children whose families choose not to accept screening for whatever reason.

This brings us to the issue of informed consent. Increasingly, the laws in some states are now requiring informed consent by parents prior to newborns undergoing screening for various inborn conditions. This is because of the implications of discovering a genetically-based diagnosis. Certainly, as ethical clinicians, it is our responsibility to give our patients and their families a reasonably complete idea of the possible outcomes, positive and negative, of any diagnostic and therapeutic plan we propose. So, what will we tell the family of the asymptomatic teenager referred for cardiac screening prior to sports participation? It seems to me that the minimum elements of that consent dealing with potential outcomes of screening would include the following:

1) We may diagnose a clear life-threatening condition and then have the opportunity to intervene with restrictions, medications or other therapies to decrease the chance of sudden death. (Hooray!)
2) We may find that all screening tests are normal and clear the child to participate.
3) We may fail to diagnose a life-threatening condition that the patient in fact has, and they may die despite negative results of screening tests. (Screening will not have a sensitivity of 100%. Please don't sue me.)
4) We may find something that makes us suspicious of a life-threatening condition, and we may not be able to come to a clear decision on whether the child is “safe” or “at risk” despite out best efforts. The patient may or may not be “cleared” for sports participation. (The patient and family now get to live with that uncertainty.)

Finally, if when informed of these possible outcomes, a family chooses not to agree to cardiac screening, they will need to know that it is likely that many athletic programs will as a result not allow their child to participate.

It is important to note that I am not per se against the concept of screening, but any discussion of the “cost-effectiveness” of screening programs must, in my opinion, include these potentially difficult issues.