Ethical Obligations and Genetic Screening

ACOG’s recent practice advisory on the use of cell-free DNA screening raises a practical ethical question for busy Ob/Gyn practitioners: How do we adequately counsel our patients before and after these tests in the current practice environment that allocates so little time to a follow-up obstetrics visit?

These tests are difficult to explain to patients and even more difficult to interpret. Practices who employ a genetic counselor obviously have a simple solution to this dilemma, but genetic counselors are in short supply, and few physicians in private practice have one available for consultation.

While this might appear to be more a practice management and communication issue than an ethical one, when we fail to properly educate and counsel our patients, and they make decisions based upon inadequate or inaccurate information, we actually failed to respect their autonomy. Our duty to patient autonomy includes providing them with the information necessary to make good choices predicated in their values. This requires us, in turn, to both give adequate information and to describe all the appropriate choices in a non-directive manner. It is simply ludicrous to believe we can do this in a 10-minute visit sandwiched between the other responsibilities of the follow-up appointment.

Time constraints are only one of the ethical challenges posed by these new genetic technologies. Equally important-and concerning-is our own need to remain abreast of these tests and what they can and cannot do. While Sequenom boasts sensitivity and specificity over 99% for the detection of Down syndrome, it is important to remember that positive predictive value is actually much lower than this in a low-risk patient. Scientists and consumer groups have criticized the companies that perform these tests for failing to emphasize that despite higher sensitivity and specificity than previous screening tests, the cell-free DNA test still is not diagnostic.

Few of us remember statistics well enough to explain this clearly and accurately to a patient, and this explanation is crucial to ensuring that patients only terminate desired pregnancies when the fetus actually has the abnormality suggested by the screening test. One report cites a follow-up study to abnormal results that found 6% of patients were obtaining an abortion without confirming the results of the screening test. 

I admit when I first saw the impressive accuracy of cell-free DNA screening I thought the amniocentesis had found its replacement, but when you do the math, you see this is not the case. As that previous report describes, in a low-risk population, a positive test result is only correct 50% of the time. Couples are aborting desired pregnancies with normal fetuses because their physicians have not properly counseled them. This is truly tragic. If we do not have the time to educate ourselves about these advancing technologies, then we must find a consultant who can do this counseling for us. Obviously, if we do not understand the science and statistics behind these tests, we cannot possibly guide our patients appropriately.

When training ethics consultants at our institution, I often belabor the point that they must understand the medicine in order to understand the ethics of a particular medical question. The corollary to this, and it is relevant to genetic testing in our obstetrical patients, is that we must understand the medicine in order to appropriately counsel our patients. Failing to counsel our patients properly is a breach of our duty to the patient. We must know the science to be ethical physicians. We must also find the time, or find someone who has the time. These twin responsibilities are crucial and admittedly difficult, but we owe it to our patients to provide them with the information and time to make these vital, life-altering choices.