Perinatal Genetic Testing: Understanding the Risks and Benefits in a Rapidly Changing Field

 

Utilization Management Insights

By Kathryn Kolonic, DO, MPH, CPHQ,

AllMed Vice President & Medical Director

 

Few human experiences are as exciting and anxiety-provoking as pregnancy. The health of a baby is often a prospective parent’s greatest concern. While most babies are born healthy, the possibility or reality of a genetic disorder can be a source of severe strain for patients and families. As these conditions typically result in more frequent and longer hospitalizations, they also have a significant financial impact on the United States healthcare system. A 2020 study of a pediatric accountable care organization (ACO) found that the 22.7 percent of children in the study population whose disorders had a strong genetic basis accounted for nearly half—42.5 percent—of claims paid by the ACO.¹ Prenatal genetic screening and testing can give parents-to-be information about whether their fetus is likely to have or actually has a genetic disorder, so that they and their providers can plan and make important decisions.

Technology Advances and Lower Sequencing Costs Drive Wider Availability

Given the high personal and financial stakes, recent advances in prenatal genetic testing have been welcome developments in patient care, enabling new and prospective parents as well as physicians to better prepare for what may lie ahead. Perhaps most influential among these are developments in non-invasive prenatal testing (NIPT), also called cell-free fetal DNA testing, which allows genetic screening or testing of a developing pregnancy by doing a blood test for the mother.² This removes the risk of miscarriage associated with conventional prenatal tests such as chorionic villus sampling or amniocentesis.³

New options such as NIPT, decreasing costs, and wider availability are three primary factors prompting the American College of Obstetricians and Gynecologists (ACOG) to now support offering expanded screening and testing to all women, not just those considered at elevated risk. The potentially devastating effect of rare recessive genetic disorders on patients and their families and the lack of bright-line divisions in the ethnic and gene carrier makeup of the United States population also figure into the new recommendations.⁴ Though professional society guidelines support offering expanded screening to all women, not all payers currently cover these tests for low-risk women. For this reason, it’s important for providers to encourage patients to check with their insurance plans before proceeding.

Counseling for a Clear Understanding and Informed Decision-Making

Genetic counseling can help a patient understand both her risk of having a child with a genetic disorder and the implications of test results. Such counseling may be provided by a geneticist, a doctor with specialized training, or a genetic counselor and initially focuses on family history and personal health. Depending on the patient’s personal beliefs and circumstances, she may then decide to proceed with prenatal genetic screening and/or diagnostic tests. The different types of genetic screening tests include⁵:

– Carrier screening, which can be done on parents before or during pregnancy, using a blood sample or tissue sample swabbed from inside the cheek. These tests are used to learn whether a person carries a gene for certain inherited disorders. Once identified, carriers of these disorders can become educated about their risks and consider a range of reproductive options.

-Tests of the pregnant woman’s blood and an ultrasound exam, done together between 10 and 13 weeks of pregnancy and/or between 18 and 22 weeks. These tests can identify increased risk that the fetus has Down syndrome or another type of aneuploidy.

A positive screening tells prospective parents that they are at a higher risk of having a baby with one of these genetic disorders, but it is not definitive. For those wanting a more certain result, the next step would be a diagnostic test such as amniocentesis or chorionic villus sampling.

Prenatal screening and diagnostic testing can provide a high level of certainty about whether a wide range of genetic disorders may be present, giving patients and providers enough information to make fully informed decisions about pregnancy management. However, the process has limitations as well, and it’s important that patients understand both the benefits and risks.

One risk is the possibility of an uncertain result. Genetic testing has advanced to the point where it is able to detect a broad range of genetic variants, yet it’s not always known whether a specific variant will affect a person negatively. This possibility should be discussed in genetic counseling, so that patients can think about how they would handle unquantifiable risk.

Another risk is the potential for secondary findings (unrelated to the original reason for the test). Discovering that an individual harbors a disease-causing variant associated with adult-onset conditions offers an example. The American College of Medical Genetics (ACMG) recommends giving people the option not to know if a test reveals that they harbor this type of variant, and there are good reasons to do so.⁶ For example, the Genetic Information Nondiscrimination Act protects individuals against discrimination based on their genetic information for health coverage and in employment, but the protections do not extend to life or long-term care insurance. For reasons such as these, making certain that patients fully understand the implications of their decision is vital.

Leveraging Specialized Expertise to Deliver Optimal Member Care

In the rapidly evolving field of prenatal genetic testing, providing optimal care to members calls for up-to-date, specialized expertise. Board-certified obstetrician/gynecologists and clinical geneticists from AllMed can provide the knowledge and sensitivity health plans need. Our specialists help your team guide members through the process and deliver high-quality care that aligns with plan policy.

 

1. Miller, K., Hoyt, R., et al. The Financial Impact of Genetic Diseases in a Pediatric Accountable Care Organization. Frontiers in Public Health. Feb. 26, 2020. https://www.frontiersin.org/articles/10.3389/fpubh.2020.00058/full. Accessed June 28, 2022.
2. Daley R., Hill M. and Chitty L.S. (2014) Non-invasive prenatal diagnosis: progress and potential. Arch. Dis. Child. Fetal Neonatal Ed. 99, F426–F430 10.1136/archdischild-2013-304828 [PubMed] [CrossRef] [Google Scholar]Horton. Accessed June 28, 2022.
3. , Lucassen, A. Recent developments in genetic/genomic medicine. National Library of Medicine. Mar. 5, 2019. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399103/. Accessed June 28, 2022
4. The American College of Obstetricians and Gynecologists. Non-Invasive Prenatal Testing Advocacy Toolkit. https://www.acog.org/advocacy/policy-priorities/non-invasive-prenatal-testing. Accessed June 28, 2022.
5. The American College of Obstetricians and Gynecologists. Prenatal Genetic Screening Tests FAQs. https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests. Accessed June 28, 2022.
6. Discovery’s Edge. Secondary Genetic Findings: Do You Want to Know? Mayo Clinic. Jul. 20, 2015. https://discoverysedge.mayo.edu/2015/07/20/news-item-1/. Accessed June 20, 2022.

 

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