Are laws pertaining to Down syndrome genetic counseling cause for concern?

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?

Pro-information movement

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.

18 thoughts on “Are laws pertaining to Down syndrome genetic counseling cause for concern?”

  1. Despite having decades of opportunity to administer prenatal testing for Down syndrome as it is supposed to be according to professional guidelines, i.e. with not just the testing being offered but also accurate information and support resources, patients still have a negative experience with their practitioner 2.5 times for every positive experience (as cited in the article). Therefore legislation is needed to ensure it is administered according to the recommendations of professional guidelines. By doing so, by unlearning bad habits of not provided accurate information and learning good habits like providing contact information for local support organizations, physicians can then apply these same habits to delivering test results for other genetic conditions as prenatal testing expands.

    • Mark,

      Thank you for your comment.

      The paper cited is the only one I got to when looking for systematic research about patient experiences (please do point me to others if I may have missed any). Though it is a good starting point, it is very preliminary evidence and not sufficient to model legislation after. Here is why I think that –

      -The study has an inherent bias in that the survey was publicized through Down syndrome support organizations and therefore more likely than not to include patients who already had a child with Down syndrome or decided to continue their pregnancy after a positive test. Though I don’t have the data with me I would suspect that women who decided to terminate were poorly represented in the prenatal group.

      -A single study done in a group of ~160 parents (majority of whom received postnatal diagnoses) is too small to reach a conclusion, let alone base legislation on.

      There are other aspects to be considered such as the level of training in genetic counseling the medical professionals involved may have received etc. but these are the two major ones.

      None of this is to discount bad patient experiences that have been documented by several people and support groups. There is definitely room to improve as the experts I spoke to clearly told me. In fact, because of the explosion in genetic testing, the field has to do a lot of learning on the job and there will be problems along the way. But as pointed out in Sheets et al (J Genetic Counsel, 2007) “The amount of information provided at the initial consultation will depend on the parents’ informational and emotional needs.” A pre designed fact sheet is unlikely to help.

      Lastly, there is no evidence that I am aware of to suggest that legislating how medical professionals communicate with patients changes their behavior.

      • Arvind

        For time purposes, I’m going to use shorthand but if you can’t find the articles, you can search my blog (www.downsyndromeprenataltesting.com) with the lead author and that should take you to posts with links to the articles, or, just search PubMed. Here are articles on the administration of prenatal testing resulting in poor patient experiences and/or not in compliance with guidelines:

        Skotko, 2005, surveyed the experiences of expectant mothers with receiving a diagnosis and noted much room for improvement; he notes the same sample bias you note.

        Seavilleklein, 2009, survey of studies on informed consent and prenatal testing and found the “overwhelming conclusion” was that the way prenatal testing was administered it did not respect a woman’s autonomy due to a lack of understanding about even being tested, what was tested, and what test results mean.

        Driscoll, 2009, survey of 500 ACOG fellows that found while 99% were practicing in conformance with 2007 ACOG guidelines to offer prenatal testing for aneuploidy to all women, only 29% were providing educational materials to their patients.

        There are a host of international studies, largely out of Europe, that also report women not understanding the decisions they made or will be asked to make once they begin prenatal testing. Search “Gradual Trap” on my blog and that will take you to an article with a very good summary of this persistent systematic failing.

        Because cell-free DNA testing is so recent, few studies on informed decision making have been done in the scholarly articles. But, periodicals have covered anecdotal stories. Huffington Post did a column last year where a mom had the Harmony test and then was “given nothing” having to find out all on her own information about Down syndrome. Many comments on my blog posts report the same. A report by the New England Center for Investigative Reporting was carried by the Boston Globe finding that 6% of women with a screen-positive cell-free DNA result terminated without diagnostic confirmation and one case where the mom even had a diagnosis proving the cell-free DNA result was a false-positive and still terminated.

        So, prenatal testing has persistently been administered with an emphasis on just the testing and not on providing adequate counseling and information to patients to enable informed choice. If legislation doesn’t change physician behavior, then at worse we’re left with the status quo (and then why be critical of legislation if it doesn’t have an impact). And when the legislation is done as the model law out of Massachusetts (and adopted in Kentucky, my home state) does, then its not legislating how physicians communicate, but rather requires them to follow the guidelines of ACOG, NSGC, and ACMG by providing the recognized resources in those organizations’ statements on prenatal testing. So, it’s requiring what they’re already recommended to do by the entities that set the standard of care.

        Thank you for your interest in this and I hope my cites and comments are helpful.

        • Mark, thank you for the resources you pointed me to and for this discussion.

          I don’t think any legislation should be enacted with the view that if ineffective it doesn’t really matter. Laws are not harmless. A whole host of questions were seemingly never addressed by the law – How is it going to be enforced and by whom? Does handing the patient a sheet with information satisfy the law or is the provider required to actually discuss the aspects (as is the intention
          of the law)? What the penalties are if it is not followed? Will this lead to lawsuits when patients with a positive result aren’t happy with the counseling they received? Maybe KY and MA’s versions are better but as Louisiana has shown political interests can easily take over and lead to bills like the Ohio ban on abortions to be debated.

          Driscoll 2009 not only points to a need for better guidelines but also says that those who closely read guidelines changed their practice and felt more qualified to counsel showing that better training can work for providers who are not specialized in genetic counseling.

          The gradual trap article weighs pros and cons concludes that information about screening should be ‘offered’ preconception (with a chance to decline). Similarly the other papers you referred to point to larger issues surrounding choice in prenatal testing and problems with informed consent about testing, which the law does not address and is a different debate.

          • Arvind

            Thank you for reviewing the materials I sent. I have posts critical of Louisiana’s law and others like it. Since the model version of the law (e.g. MA & KY) track the practice guidelines, an argument could be made physicians could already be sued for violating the standard of care. The purpose of the law is to serve as a means of providing the recommended materials to physicians so that they are aware of them and so they provide them to their patients.

            Two other resources that I should have mentioned regarding patient experiences are Gifts by Kathryn Soper & Unexpected, edited by Jen Jacobs. Both are collections of personal stories by moms of children with Down syndrome. They further detail how too often women are not provided the recommended written resources or referred to support groups. This has been the standard of care for at least 8 years and was best practice for decades before then. The fact that practice still lags is the reason the laws are needed.

    • Mark,

      Thank you for your comment.

      The paper cited is the only one I got to when looking for systematic research about patient experiences (please do point me to others if I may have missed any). Though it is a good starting point, it is very preliminary evidence and not sufficient to model legislation after. Here is why I think that –

      -The study has an inherent bias in that the survey was publicized through Down syndrome support organizations and therefore more likely than not to include patients who already had a child with Down syndrome or decided to continue their pregnancy after a positive test. Though I don’t have the data with me I would suspect that women who decided to terminate were poorly represented in the prenatal group.

      -A single study done in a group of ~160 parents (majority of whom received postnatal diagnoses) is too small to reach a conclusion, let alone base legislation on.

      There are other aspects to be considered such as the level of training in genetic counseling the medical professionals involved may have received etc. but these are the two major ones.

      None of this is to discount bad patient experiences that have been documented by several people and support groups. There is definitely room to improve as the experts I spoke to clearly told me. In fact, because of the explosion in genetic testing, the field has to do a lot of learning on the job and there will be problems along the way. But as pointed out in Sheets et al (J Genetic Counsel, 2007) “The amount of information provided at the initial consultation will depend on the parents’ informational and emotional needs.” A pre designed fact sheet is unlikely to help.

      Lastly, there is no evidence that I am aware of to suggest that legislating how medical professionals communicate with patients changes their behavior.

  2. Despite having decades of opportunity to administer prenatal testing for Down syndrome as it is supposed to be according to professional guidelines, i.e. with not just the testing being offered but also accurate information and support resources, patients still have a negative experience with their practitioner 2.5 times for every positive experience (as cited in the article). Therefore legislation is needed to ensure it is administered according to the recommendations of professional guidelines. By doing so, by unlearning bad habits of not provided accurate information and learning good habits like providing contact information for local support organizations, physicians can then apply these same habits to delivering test results for other genetic conditions as prenatal testing expands.

  3. The very targeting of Down syndrome for prenatal selection is bias against those with the condition. No other minority is treated like that. Adding information to support prenatal selection adds to the cycle of prejudice. Legislation is needed to protect their freedom from prenatal discrimination and to work towards equality.

    • Hmmm…pre natal discrimination is a moral argument…anti-abortion stance. So you’d deny the right of a parent to abort a first trimester fetus with the argument that it has rights? That’s not the law in most states.

    • Hmmm…pre natal discrimination is a moral argument…anti-abortion stance. So you’d deny the right of a parent to abort a first trimester fetus with the argument that it has rights? That’s not the law in most states.

      • It’s an ethical disability rights stance Jon. Targeting one minority for their genetic variation is discrimination and a bias against that group, including those living with Down syndrome. The disability rights position requires equality, which doesn’t exist whilst targeted for abortion. Equality being the equal treatment and protection under the law without a distinction on the basis of a disability or genetic condition. So yes, as a genetically distinct group, they have the right to be born on an equal basis as those of gender, race etc. As you will see, that is the evolving legal and disability rights understanding.

      • It’s an ethical disability rights stance Jon. Targeting one minority for their genetic variation is discrimination and a bias against that group, including those living with Down syndrome. The disability rights position requires equality, which doesn’t exist whilst targeted for abortion. Equality being the equal treatment and protection under the law without a distinction on the basis of a disability or genetic condition. So yes, as a genetically distinct group, they have the right to be born on an equal basis as those of gender, race etc. As you will see, that is the evolving legal and disability rights understanding.

        • Guess we disagree. I don’t think early stage fetuses have any rights so on that basis alone a woman can make whatever decision she wants.. A woman makes decision many times on the assessment of the future viability of that fetus. There is no target on any one condition, medical, economic or social. I think that’s the correct moral and legal position.

        • Guess we disagree. I don’t think early stage fetuses have any rights so on that basis alone a woman can make whatever decision she wants.. A woman makes decision many times on the assessment of the future viability of that fetus. There is no target on any one condition, medical, economic or social. I think that’s the correct moral and legal position.

  4. The very targeting of Down syndrome for prenatal selection is bias against those with the condition. No other minority is treated like that. Adding information to support prenatal selection adds to the cycle of prejudice. Legislation is needed to protect their freedom from prenatal discrimination and to work towards equality.

  5. “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.”

    I have yet to see proof that doctors must include pregnancy termination in their state-sponsored materials. In fact, I think conscience protection laws do the opposite, allowing professionals to opt out of the promotion of termination.

  6. “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.”

    I have yet to see proof that doctors must include pregnancy termination in their state-sponsored materials. In fact, I think conscience protection laws do the opposite, allowing professionals to opt out of the promotion of termination.

  7. Mutants are a burden to society. Aborting Mutants should be encouraged just as Aborting fetuses from rape and incest are encouraged.

    The vast majority of abortions are elective and have nothing whatsoever with fetal abnormalities. There is nothing wrong with demanding a healthy baby.

    It’s not unreasonable for women not to want to grunt scream and exert the effort of childbirth for a mutant that will suffer and drop dead way before other humans. The time and trouble needed to raise one mutant can and should, IMHO, be spent having multiple healthy kids.

    Of course, many people feel that a female who gets an abortion owes society a healthy baby or two once they can carry a pregnancy and raise a kid properly.

    Libertarians don’t struggle with such issues because we support genuine freedom, not just a medical monopoly which has bribed Democrats. If you don’t want an abortion or an AK-47, don’t buy one. If you don’t like how I’m living, leave this here country boy alone!!

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