TRANSPERS Director Speaks out on Access Issues In Health Affairs Posting

At the prospect of delivering a child with a genetic disorder, poorer women may have less information and fewer choices

by Kathryn A. Phillips and ​Subhashini Chandrasekharan

New tests for detecting genetic conditions are rapidly entering clinical care, raising some concerns that these tests won’t benefit everyone equally. One test in particular, noninvasive prenatal screening (NIPS), which screens a fetus for genetic conditions such as Down syndrome, has been rapidly adopted, but access is not uniform across all women. Although NIPS is a screening, rather than diagnostic, test and Down syndrome is only one of several genetic disorders that can be screened prenatally, we use it to provide a case study of the broader issues of access to care and unintended societal consequences. Our overarching conclusion is that poor women may have fewer choices during pregnancy if they live in states with both less coverage for prenatal screening and less access to abortion services if they decide to terminate their pregnancy.

NIPS can be performed as early as nine weeks to detect common chromosomal defects and has fewer false positives than serum screening. Although results must be confirmed with a diagnostic test such as amniocentesis, NIPS can provide earlier indication of a potential problem and does not carry a risk of miscarriage. Increasingly, private insurers are covering NIPS for high-risk women. To be sure, many parents-to-be who learn that their child will be born with Down syndrome, which affects one in every 700 babies born, or other genetic disorders continue with their pregnancies, and children with chromosomal disorders can live happy, productive lives. However, children with chromosomal disorders do have significant disabilities, which can also impact their families—more than 40 percent of families of children with Down syndrome had a family member who stopped working because of the child’s condition, and about 40 percent reported the child’s condition caused financial problems.

By allowing earlier screening of genetic conditions than other tests, NIPS could allow expectant parents more time for confirmatory testing and reproductive decision making. But this new test may not be available to all women at high risk who might want it. Consider the case of “Sally.” While Sally does not represent one single patient, her story draws on the reported experiences of a group of practitioners and researchers that are studying the ethical, legal, social, and policy aspects of clinical translation of NIPS and other genomic technologies in the United States. Consider that Sally is pregnant with her second child. She would like to have her fetus screened early for fetal genetic defects because she is potentially at a higher risk because she had a prior miscarriage.

But Sally receives Medicaid and lives in a state that does not cover NIPS for women such as herself who are at high risk for having babies with genetic disorders. In general, states vary greatly in their Medicaid policies—and proposed revisions to the program, such as the use of block grants to states, may increase this variability. An analysis of Medicaid policies for pregnant women found that 15 states do not cover NIPS for any women, including those with high-risk pregnancies, according to Marily H. Rhudy, secretary and director of the Coalition for Access to Prenatal Screening.

Let’s say Sally also lives in a state that has limited access to abortion. As is the case with Medicaid policies, states vary greatly in their laws regarding access to abortions. States have imposed a range of restrictions including mandatory waiting periods, mandatory counseling, mandatory parental involvement for minors, a requirement to have an ultrasound, restrictions on coverage by private or public insurers, restrictions on where abortions can be performed and by whom, and gestational age limits for abortions. A recent report noted that while some states have no or few laws restricting access to abortions, several states have as many as 14 such laws limiting access. In new analyses, we found that many states that do not cover NIPS also have more abortion restrictions. Of the 15 states that do not cover NIPS, two-thirds also had nine or more laws restricting abortions. In October 2017, the US House of Representatives passed legislation that would bar abortion after 20 weeks and would not exclude pregnancies with newly discovered fetal anomalies. If this became law, it could take precedent over state abortion policies.

Sally cannot afford to pay for NIPS out of pocket (it could cost her about $1,000), so she waits until she can have amniocentesis, which is covered in her state. However, patients such as Sally often face difficulty obtaining and traveling to appointments. Because of delays until she can be seen at the clinic, Sally does not learn that her fetus is affected with Down syndrome until she is too far into her pregnancy to seek abortion in her state because of mandatory waiting periods and cannot afford to travel elsewhere to have the abortion. After the baby is born, Sally decides she must stay home to take care of the child and gives up her plans to obtain more job training that would enable her to get off of Medicaid.

Sally’s situation reflects the reality of many pregnant women covered by Medicaid across the country. Regardless of how one feels about reproductive decisions, there is a bigger question here for society. A recent article noted that we are in danger of the “ghettoization of genetic disease,” referring to the risk that genetic conditions such as Down syndrome cease to be disorders that could affect anyone and become something that affects only certain people, particularly those with less access to health care. “Genetic disease has always been a shared vulnerability. When one part of society can opt out of risk, will they continue to feel the same obligation to provide support and resources to those who remain vulnerable?”

When it comes to pregnancy, every woman has to decide what is best for her and her family. Many women choose not to have prenatal screening or choose not to abort an affected fetus. States, meanwhile, have limited resources and must make decisions about what services their Medicaid programs will cover. There are other options for prenatal screening beyond NIPS that enable all women to detect potential genetic disorders during a pregnancy. But as we have found, in practice, state policies and issues with access to care can limit some women’s options. All women deserve the opportunity to make an informed choice about all options for prenatal screening and should have the opportunity to access a safe abortion if they decide to terminate a pregnancy. Also needed is more transparency on Medicaid policies and how evidence on clinical validity and utility of new genomic tests such as NIPS is used to inform policy decision making.

Phillips KA and Chandrasekharan S. At The Prospect Of Delivering A Child With A Genetic Disorder, Poorer Women May Have Less Information and Fewer Choices. Health Affairs Blog, December 19, 2017.

© 2017 Health Affairs by Project HOPE - The People-to-People Health Foundation, Inc.

Authors’ disclosure

Dr. Kathryn A. Phillips consults for Illumina, which markets one of several prenatal tests on the market. Her consulting is on methods for evaluating precision medicine and is not focused on any specific test.