So the headline ran after ACOG changed its guidelines for prenatal genetic testing. Um, except that’s not what “Doctors say.” It’s just how everyone understands what ACOG meant when it changed the standard of care for when women are to be offered prenatal genetic testing.
Reaction to ACOG changing prenatal testing guidelines
The initial reporting on the change in standard of care drew the ire of the National Down Syndrome Congress (“NDSC”) and the National Down Syndrome Society (“NDSS”). With the publication of the new standard of care, the New York Times headline read: “Screen All Pregnancies for Down Syndrome, Doctors Say.” In separate press releases, the two organizations condemned the publicity of the new guidelines for saying that all women should be tested for Down syndrome.
Prenatal genetic testing has been criticized from its inception for stigmatizing the tested-for conditions. Medical tests typically do not look for desirable conditions, rather they test for conditions sought to be treated or avoided. By testing for Down syndrome, it stigmatizes the condition as something to be treated and avoided.
On the eve of its Annual Clinical Meeting in May of 2007, just months after releasing the new guidelines, ACOG issued a press release in response to the criticism. ACOG clarified that the new guidelines were not that all women should be tested for Down syndrome, but that all women should be offered testing for Down syndrome. Dr. Deborah Driscoll, the guidelines’ lead author, emphasized that the decision to accept or decline the offer of prenatal testing should be the result of an informed decision and that patients should receive accurate information about Down syndrome and the other tested-for conditions. Reporting on the press release, ABC News ran the headline:
Doctors Should Test for Down Syndrome
Regardless of the efforts by ACOG to respond to the criticism, to the layperson it was clear that ACOG’s guidelines meant that all women should be tested for Down syndrome.
Additional screening combinations
With the addition of the NT-combined screen, new combinations of screening protocols were developed.
With “sequential screening,” the expectant mother had the first trimester NT-combined screen. If it reported a higher probability for a tested-for condition, she would have the second trimester Quad screen. The two results would be analyzed to reassess her chance for having a tested-for condition.
Another version combining the multiple trimester screens is “integrated screening.” It’s termed “integrated” because the mother is not informed of the first trimester screen result; the result reported is only after the first and second trimester screens are integrated and analyzed. In ACOG PB 77, it advised practitioners that “[i]deally, patients seen early in pregnancy should be offered aneuploidy screening that combines first- and second-trimester testing (integrated or sequential).” This is because of all prenatal screening options at the time of that guideline, Sequential and Integrated screening offered the highest detection rate with the lowest false positives, with Integrated screening being more accurate than Sequential.
The bioethical justification for prenatal genetic testing
Integrated screening has been critiqued by two authors who regularly publish about prenatal genetic screening: Frank Chervenak of the University of Pennsylvania and Larry McCullough of Baylor University. I had the chance to hear Mr. McCullough present at the University of Louisville as part of my bioethics program. Mr. Chervenak was on a panel at the NDSC annual convention, along with representatives from genetic testing laboratories.
Chervenak and McCullough criticized integrated screening for violating the bioethical principle of autonomy and the medical rule of informed consent (both of which actually grew out of the Nuremberg Code in response to Nazi Holocaust patient experiments, but more on that in the next chapter).
Autonomy stands for the belief that patients should have control over what is done with their bodies and lives. Informed consent is the heightened form of agreeing to a medical procedure after being counseled about its relative risks, benefits, and the option of not having the procedure.
Chervenak and McCullough argue that integrated screening violates these principles. By withholding the patient’s first trimester screen results, the protocol deprives the patient the ability to choose first trimester diagnostic testing. Integrated screening, they argue, obviates informed consent because she cannot choose that earlier diagnostic testing and an earlier termination of the pregnancy.
Conversely, their critique seems to disrespect an expectant mother’s ability to exercise her autonomy and grant informed consent. If she is counseled beforehand that by choosing integrated screening, she will not receive her first trimester screen results, but it will be a more accurate screen result in the second trimester, her decision to accept integrated screening would be supported by the principle of autonomy and by informed consent.
These notions of autonomy and informed consent are the ethical bedrock upon which prenatal genetic testing has been based from the beginning. The theory goes that out of respect for a woman’s autonomy, her ability to control her life and her pregnancy according to her values, then, Chervenak and McCullough notably, have not only justified offering prenatal genetic testing, but hold that it is an ethical obligation that physicians have to offer prenatal genetic testing. To them, if a practitioner did not offer his or her patient prenatal genetic testing, they would be violating an ethical duty.
Similarly, Chervenak and McCullough, and many others, argue that the doctrine of informed consent compels offering prenatal genetic testing. Their argument is that a reasonable person would find the information of Down syndrome medically relevant in the management of their pregnancy. To put it bluntly: it is reasonable to expect that a pregnant woman may consider terminating her pregnancy if told the fetus had Down syndrome. In order for her to exercise informed consent over the management of her pregnancy, prenatal genetic testing provides relevant information for her to consider, if she chooses to have it.
Or, so goes the informed consent argument for compelling offering prenatal genetic testing.
Though this ethical justification for prenatal genetic testing equally has been criticized, it remains the construct by which all prenatal genetic testing is justified. It is why ACOG, NSGC, ACMG, and the ISPD continue to issue guidelines with each new development in prenatal testing recommending that it be offered to expectant mothers. But, there is a difference between theory and reality. And, in reality, the theory upon which prenatal genetic testing is based breaks down in actual clinical practice and patient experience.
Autonomy and informed consent in practice
In countries with a public health system, i.e. a single-payor system, there have been multiple studies conducted on whether the administration of prenatal genetic testing results in informed consent and respect for the expectant women’s autonomy.
A study out of England found that only 43.5 percent of women made an informed choice about screening for Down syndrome; in Greece, a study found that “56 percent of women made an uninformed choice;” and in The Netherlands, a study found that just 51 percent of mothers made an informed decision. A later study from the Netherlands found that the percentage had risen to 71 percent of native Dutch making an informed decision, but, when considering that only 5 percent of the immigrant population made an informed decision, the average fell to 36 percent. An Australia study found that “[t]he majority of clients demonstrated a poor understanding of the screening test they had been given and several demonstrated little or no recall of any relevant information having been previously given.” These figures led one researcher to conclude that “[i]t seems to be the international status quo that prenatal screening behavior in general cannot be considered to be based on informed choices.”
In 2009, seeking to determine whether the 2007 guidelines had resulted in a change in practice, some of the guidelines’s authors surveyed obstetricians. Demonstrating the effectiveness of ACOG’s guidelines, the survey found that 99% of responding obstetricians offered prenatal genetic testing to all of their patients.
That same year, a separate study was published in the journal Bioethics, one of the leading bioethical journals. Its author had surveyed the published studies on prenatal genetic testing and informed consent. She concluded “current screening practice does not protect or promote women’s autonomy in the vast majority of cases” due to studies that “overwhelmingly show that women do not understand the testing, including basic facts such as why the test is being done, what conditions are being looked for, what the results mean, and what will (or may) follow after testing.”
This was the practice of prenatal genetic testing for Down syndrome and other conditions. Health care providers are ethically, and essentially legally, obligated to offer prenatal genetic testing to all expectant mothers. They are to do so out of respect for their patients’ autonomy and fulfilling their obligations of informed consent. Yet, the actual administration of prenatal genetic testing results in the overwhelming conclusion that offering it did not result in informed choices and did not promote women’s autonomy.
Into this context would be introduced a new advance in prenatal testing offering greater accuracy, safety, and reassurance than ever before. Would this new development change the status quo? Would women’s autonomy be respected? And, would the new technology provide more accurate information? We will see in the final section of this chapter.
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