Chloe Kondrich, born with Down syndrome in 2003, is now the poster child for genetic counseling and Down’s syndrome.
Around this time last year, Pennsylvania passed what is known as the Down Syndrome Prenatal Education Act, more commonly known as Chloe’s Law. In what can be considered a rare occurrence in the current political climate, the law passed with no opposition in the Senate and an overwhelming majority (196-4) in the House.
Named after the 12-year old girl, the law mandates that health care providers give specific information to pregnant mothers who had received a positive diagnosis of Down syndrome, a genetic condition that leads to developmental delays as a result of the fetus inheriting three copies of chromosome 21 instead of the usual two.
The information, prepared with the help of medical experts and Down syndrome organizations, includes among other things “physical, developmental, educational and psychosocial outcomes as well as contacts for relevant resource centers, clearinghouses, support services and First Call programs.” <Chloe’s Law is very similar in language to legislation passed last year in several other states including Massachusetts, Delaware, Louisiana, Ohio and Maryland more recently in Texas that direct patient-provider communication in the event of a positive Down syndrome diagnosis.
These laws however are not without contention. Recently in a perspective published in the journal PLoS Biology, Arthur Caplan, a prominent bioethicist at New York University argued that Chloe’s law and others like it are setting a precedent in genetic counseling by legislating patient-provider communication. Caplan suggests that one reason why pro-life advocacy groups have pushed for such laws is the high rate of abortion following a diagnosis of Down syndrome, an issue that has been highly controversial.
Do these laws as Caplan suggests, bias what information parents might receive when undergoing genetic counseling? And do they present a worrying trend in the long term?
Down syndrome is the most commonly diagnosed genetic abnormality in the country primarily because testing methods have steadily improved in availability and accuracy over the past several decades. A common statistic quoted in many reports based on a study done in Europe (including the one by Caplan) is that 90-95 percent opt to terminate their pregnancy in the event of a positive diagnosis. A more recent study of termination rates in the Unites States however put the number somewhere around 70 percent. Even though it is quite difficult to determine the exact termination rates or Down syndrome, it is safe to assume that the numbers are quite high.
As the pro-life and pro-choice camps battled to influence what pregnant women should do when receiving a positive diagnosis, a new camp emerged that advocated for the most accurate and up-to-date information being provided to the parents or prospective parents so that they could make an informed choice. Kurt Kondrich, Chloe’s father and the leading advocate for Chloe’s law, pointed this out when the law was passed. “This isn’t a partisan law. It’s not a pro-choice or pro-life law. It’s a pro-information law,” he said.
The pro-information movement emerged out of difficulties experienced by parents when receiving the diagnosis from a provider and when attempting to get proper information about Down syndrome before making a decision. Many parents reported not receiving information regarding the positive aspects of raising a child with Down syndrome, saying instead that providers often focused only on the negative aspects. Reports also suggested that genetic counselors were often not equipped to provide proper counseling and parents more often than not had a negative experience.
Eventually along with the support of Down syndrome support organizations, this group began to push for legislation to remedy their situation which resulted in the first Down syndrome information act being passed in Massachusetts. Although pro-information was supposed to be neither pro-life nor pro-choice, Caplan argues that it should not be an unbiased movement.
…those promoting legislation believe, based on the abortion statistics, that parents of prospective children with Down syndrome do not receive sufficient and accurate information about the condition. They see the legislation as pro-information and, thus, pro–patient autonomy, although, if abortion rates did not change in states with such laws, it is fairly certain the legislation would be seen by many pro-life and disability proponents as a failure.
Cause for concern
According to Pennsylvania state representative Mark Painter (D-Montgomery), the issue was whether government should be legislating communications between doctors and patients.
Painter said that he remembers the exact moment when a doctor told him and his wife that his son, then three-and-a-half years old, had autism and was severely disabled. “[I remember] how shocked and distressed, and emotionally vulnerable I was at the time,” said Painter. Legislators should not substitute their judgment for a doctor’s judgment.
Other experts interviewed for this piece agreed that legislation was probably not the best way to go. “I don’t think handing standard packets addresses the problem. ” said Joann Bodurtha, a Professor of Pediatrics and Oncology at Johns Hopkins University and an expert with several decades of experience in counseling patients. “What is right for one family may not be right for another. People are coming from different points of view and we should never presume what they want to know. We don’t want to mandate material that doesn’t address what their concerns are,” she said.
Apart from the four lawmakers who dissented, several professional medical organizations such as the Pennsylvania chapter of the American College of Obstetricians and Gynecologists (PA ACOG) and the Pennsylvania Medical Society also opposed the legislation, citing interference with the physician-patient relationship as a significant concern.
“I think it is always concerning when these things [physician-patient communications] are mandated by the legislature because they are not necessarily as aware of some of the subtleties in the care of these patients,” said Devereux N. Saller, Jr. a Professor in the Department of Obstetrics, Gynecology & Reproductive Sciences and the Director of Clinical Genetic Services at the University of Pittsburgh Medical Center. “There are professional guidelines from associations that help to provde me and other physicians with recommendations about the kinds of information that may be appropriate to pass along,” he said.
Another concern with legislation is the content presented at the time of diagnosis. Saller for example thinks that the information in packets provided by the Pennsylvania Department of Health for Down syndrome is accurate. However, “some experts have suggested that it doesn’t portray the whole spectrum of Down syndrome,” he says. “I believe that experts and Down syndrome organizations were involved in putting together the booklet but exactly how it was done I don’t know. This was not like an National Institutes of Health paper where there was a period to seek input.”
There is no national standard for this information and states often end up giving out packets that differ in their content. Louisiana’s version in particular has stirred up the pro-life/pro-choice debate, lending some credibility to Caplan’s concerns about the pro-information movement being unbiased.
Louisiana added a limiting stipulation to the law—one that mandates that state-sponsored materials should not “explicitly or implicitly” present “pregnancy termination as a neutral or acceptable option,” even though professional standards dictate that doctors do so.
In a story published today on CNN, David Perry, the father of an 8-year boy with Down syndrome writes that the pro-information movement has been misused and politicized
This “pro-information” movement draws allies from all backgrounds. Or did, anyway, because now the anti-abortion lobby has been targeting these bills as well, skewing legislation to serve its ends, and hijacking the movement. When a “pro-information” law forces doctors to conceal information thanks to anti-abortion activists, the coalition is dead.
Debate about what information must be given to patients was active even before these laws were passed–and they centered around one thing, abortion.
Anticipating the debut of new noninvasive genetic tests, experts from major advocacy and medical organizations, including geneticist groups, developed an unprecedented guide called “Understanding the Down Syndrome Diagnosis,” available free online at lettercase.org. The booklet was supposed to become the resource to give parents.
But the next year, the two advocacy groups withdrew their backing rather than endorse two paragraphs on pregnancy termination. In 2012, they produced their own, briefer pamphlet, without mention of abortion.
“We have board members with Down syndrome,” said David Tolleson, director of the National Down Syndrome Congress. “In their minds, their advocacy organization should not be touting termination as coequal to other options. . . That’s like saying your life is not worth living.”
Is there a way to change the laws? In its opposition, PA ACOG suggested that an amendment that would make the communication non-mandatory would be more appropriate
PA ACOG supports an amendment that will remove the mandate language for physicians and replace it with a permissible action. An amendment such is this would achieve similar results by making additional informational materials available to aid physicians’ discussions with their patients and families while not creating undue interference in the physician-patient relationship.
It is important not to dismiss the concerns of parents and advocates who have pointed out the deficiencies in the health care system as it pertains to how provider-patient communication is handled in the case of Down syndrome. These are difficult conversations and there is definitely room for improvement in how providers work with patients. But legislation may not be the most appropriate solution in the long term. Genetic testing is rapidly evolving to detect more and more conditions early in pregnancy. Legal precedents will only serve to muddle and confuse the situation for both parents and providers during what is likely an already difficult situation.
Arvind Suresh is a science media liaison at the Genetic Expert News Service. He is also a science communicator and a former laboratory biologist. Follow him @suresh_arvind.