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Genetic Counseling Likely to Become More 'Complicated' in Wake of Roe Repeal 

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Pregnancy medical consultation

NEW YORK — The recent US Supreme Court ruling repealing Roe v. Wade may place genetic counselors in a difficult position as they discuss reproductive options with patients who may receive genetic testing results weeks into a pregnancy. 

In overturning Roe v. Wade, the Supreme Court repealed a 1972 decision that a right to an abortion was enshrined in the Constitution. But in its Dobbs v. Jackson Women's Health Organization decision, the justices overruled that in a 6-to-3 decision and said the authority to regulate abortion rests with people's elected representatives. 

Restrictions on abortion now vary from state to state, as some states like Texas, Mississippi, and Oklahoma have now banned abortion while others like Ohio, Tennessee, and South Carolina have banned it after six weeks, with few exceptions, according to the Guttmacher Institute, an abortion rights research organization. These new restrictions may affect how genetic counselors discuss reproductive options with patients who receive genetic testing results indicating, for example, a life-threatening or fatal condition affecting the fetus. 

Exactly how changes to state abortion laws will affect genetic counselors is not fully clear, but previously enacted and proposed restrictions give a glimpse into how genetic testing and the role of genetic counselors might be affected. 

"The practice of genetic counseling is likely to become more complicated and not less complicated in this environment in terms of how best to counsel patients about the options that are available to them and where they would need to go to access care," Cincinnati Children's Hospital Medical Center's Michelle McGowan said. "It's really dynamic." 

Following the decision, the American College of Medical Genetics and Genomics, the American Society of Human Genetics, and the National Society of Genetic Counselors issued a joint statement that they oppose laws that "prevent families from making informed reproductive choices, or that seek to prevent or criminalize healthcare professionals who inform patients of scientific knowledge or reproductive options." 

Some states, according to the Guttmacher Institute, have previously implemented policies that require healthcare providers to provide specific information, some of it disputed, to patients seeking terminations. 

In a position statement, NSGC further said that it opposes efforts that "disrupt the patient/provider relationship and efforts that impede the ability to provide or access comprehensive reproductive healthcare." 

One particular concern is whether states might restrict what information healthcare providers can share with patients, added Heather Zierhut, the president of NSGC. 

"I think that is in conflict with a code of ethics that enables genetic counselors and their clients to help them make the informed decisions," she said, adding that would affect genetic counselors' ability to perform their jobs as they have been. 

Laura Hercher, a genetic counselor and director of student research in Sarah Lawrence College's human genetic program, agreed, saying that would be "terrible." 

"Good practice is telling people honestly what their options are," she said. 

Even though the laws in US states are in flux, some previous studies hint at how those changes might affect genetic counselors, genetic testing, and genetic counselors' relationships with their patients. 

For instance, legislators in Ohio had passed or proposed dozens of changes to laws affecting abortion, abortion providers, and clinics between 2010 and 2020. One of those, Ohio's Down Syndrome Nondiscrimination Act, caught the attention of Cincinnati Children's McGowan. That act bars physicians from performing an abortion if it's due to a fetal diagnosis of Down syndrome, or trisomy 21, which was then fought in court. 

"We were particularly interested in what genetic counselors thought about a condition that they often describe to patients in their practice … being at the center of litigation," McGowan, a research associate professor at Cincinnati Children's Ethics Center, said. 

She and her colleagues surveyed reproductive genetic counselors in the state and, in a paper appearing in the Journal of Genetic Counseling last November, found that they viewed legislative restriction on abortion as affecting their practice and negatively affecting their relationships with patients. 

In particular, the researchers found that genetic counselors thought that a ban on abortion due to a finding of Down syndrome, also known as a "reason ban," would not only negatively affect their relationships with patients but also raise personal ethical concerns. One genetic counselor surveyed said that a patient had to be advised not to reveal the reason why a termination was being sought, and the counselor did not provide the patient's medical records to the clinic or adviser. Other participants said that this would make them feel "sneaky" or "deceptive." 

McGowan's study further found that gestation age limits conflict with a tenet of genetic counseling to be non-directive. But the genetic counselors surveyed said that gestation age limits place them in a position where patients might only have a few days to decide about continuing or terminating a pregnancy. Giving patients a timeline, one participant said, felt directive. 

"And that felt really in contrast to the ways that they were trained to approach giving patients the amount of information and time and support that they need in order to make a decision that's right for them," McGowan said. Further, she noted, "they felt that even though they were not the ones who are making the laws, they are the messengers of the laws and often felt that that created a really difficult dynamic with patients who would go from feeling upset and sad about the status of a pregnancy to then being angry about the ways the laws would constrain them in their decision making." 

Another study appearing in the Journal of Genetic Counseling in June 2021 similarly reported that regulations affecting the decision-making timeframe had a significant effect on prenatal genetic counseling and the access of care. 

There are also concerns that state laws restricting terminations to early pregnancies could affect both the timing and uptake of genetic testing, as healthcare providers try to give patients the information they need to make informed decisions. 

According to McGowan, some of the genetic counselors she surveyed in Ohio in 2019 and 2020 thought there might then be lower uptake of subsequent genetic testing and in turn genetic counseling if terminations are not allowed past a certain point. But others instead suspected that some aspects of genetic counseling are ingrained in obstetric care. For instance, skipping a 20-week anatomy scan, she said, would be unusual. 

But McGowan added that now there might be more questions raised about whether to pursue genetic testing following a scan. Or, as Hercher noted, when those scans are even performed. By shifting scans and tests earlier, clinicians may hope to provide patients more time and choices. 

"People are adjusting by moving dates of certain tests and screens earlier to permit the same options," Hercher added. "There's a reason why the screens were done at that point in time. So if you do the 20-week ultrasound at 17 weeks, there are things you are going to miss and whether you're going to end a pregnancy or not, that affects everybody." 

McGowan additionally sees a clash between new restrictions and noninvasive prenatal screening. Even though that tool was developed to detect chromosomal abnormalities and microdeletions, she said a number of patients turn to it to learn the sex of the fetus and may not be considering the full ramifications of what they may learn. "They don't think that much about what the information is that they might get until it's there," she added. "And so I think that there are likely to be some challenges where people are either familiar with changes in the law or don't necessarily understand how the genetic testing could cascade into decisions that conflict with the law." 

Uptake of carrier screening could additionally be affected. For instance, Hercher described a hypothetical situation in which parents learn they are both carriers for sickle cell, but cannot confirm whether a pregnancy is affected until chorionic villus sampling is performed weeks into the pregnancy. That would mean the utility of carrier testing has to be reconsidered and should be discussed as part of informed consent. 

"If you don't have the money to do IVF and you live in a state where abortion isn't available, what are you going to do with that information?" Hercher asked. 

This, she added, will increase health disparities because the utility of that test will not be the same for everyone. 

This contribution to healthcare disparities was underscored in the joint statement from ACMG, ASHG, and NSCG, as the organizations noted that individuals in underserved communities already have limited access to genetic services. People who are financially better off will have the means to take time off from work and travel out of state to seek a termination if they want, while that will be more difficult for others, Hercher said. 

"We [as genetic counselors] really understand that what this law does is not cease abortion" but "changes the landscape of who's allowed to get an abortion in this country and who isn't," she added. "And that that's tied to deep-seated inequities in healthcare and other parts of life. And that's a part of, I think, the anger on behalf of the patients. We see this affecting the most vulnerable individuals in this country and not touching the most privileged." 

The situation remains dynamic, with new restrictions on abortion coming into effect and others being stayed by courts, which leaves some room for confusion on what is and is not allowed. 

Once there is more stability, Hercher and her colleagues at GENUINE Collective, a group of genetic counselors that advocates for reproductive justice, will be putting together a resource for genetic counselors on what is legal in each state and where patients could be sent for more resources. Additionally, at NSGC, Zierhut said they are listening to members to see what types of tools or resources they need, though noted that they are still gathering information.