What To Know about the New York Times Story about Prenatal Screening
The New York Times’ story “When These Prenatal Tests Warn of Rare Disorders, They Are Usually Wrong” and the accompanying podcast “An Investigation of Flawed Prenatal Tests” explores the important topic about pregnant people’s experiences with prenatal genetic screening. The story investigates the likelihood a baby actually has a problem when a prenatal screening test shows a higher chance for a specific rare disorder called a microdeletion syndrome. Below is an expert evaluation of five key points made in the story.
1. True: Our healthcare system doesn’t adequately support people going through prenatal genetic screening.
Overwhelmed prenatal care providers are expected to provide lengthy and complicated counseling about the benefits and limitations of prenatal screening. Describing the complexity of genetic testing is challenging in any medical situation, and the health of an unborn child is an especially sensitive topic.
The New York Times story and podcast mention the helpful role of genetic counseling for discussing positive screening results. However, many people may not know that they could ask to meet with a genetic counselor before they have testing. People can even consider the benefits and limitations of genetic screening before they are pregnant. (However, the testing described in the story can only be offered during pregnancy.) Telehealth appointments with genetic counselors are readily available and often covered by health plans.
Of course, it is important to acknowledge the inequities in our health system. Many people will not have access to education and resources. Enhanced tools and support for busy prenatal care providers and diverse patient populations are critical to develop and distribute. It is reasonable to question the appropriateness of screening programs provided without adequate support.
2. False: Non-invasive prenatal testing or screening (NIPT or NIPS) described in the story are “usually wrong”.
The New York Times story’s framing of the results is misleading. The particular type of prenatal genetic testing the story describes is a screening test. When most people hear that a test is “wrong”, they think that a mistake occurred. However, in the scenario described in the New York Times story, no mistake has been made.
“Screening tests sort out apparently well persons who probably have a disease from those who probably do not. A screening test is not intended to be diagnostic. Persons with positive or suspicious findings must be referred to their physicians for diagnosis and necessary treatment.” - JMG Wilson and J Jungner, World Health Organization, 1968.
A screening test is like a large net being cast to find a smaller number of people in the population who have a higher chance for the condition. Most of the people caught in this net don’t actually have the condition, but their risk may be high enough to consider further testing. In the case of prenatal screening, the definitive tests for genetic conditions are amniocentesis or chorionic villus sampling (CVS). Both CVS and amniocentesis have a small risk of miscarriage.
When creating a medical screening program, there is a delicate balance of how sensitive the test needs to be (think how broadly to cast the net) in order to find most cases of the disorder while simultaneously minimizing alarm from people found to be high-risk through screening. The more rare the disorder, the more challenging that balance is to make. (Think: if there aren’t many of a particular type of fish in the sea, your net has to be much larger to find them - but you will capture other fish in the net, too.)
The New York Times story mentioned interviews with 14 women who received screen positive results for whom follow-up amniocentesis or CVS did not identify a definite genetic condition with the fetus. Their feelings are understandable. Reader comments online include some other viewpoints that were not covered in the story itself. For example, many people experience peace of mind from negative screening result. In others, amniocentesis or CVS may diagnose the condition, giving the expectant parents options and valuable time in the pregnancy for planning.
Ultimately, if people planning for pregnancy want to avoid this situation, it is smart to learn about prenatal genetic screening as early as possible.
Prenatal genetic screening is optional, so people need to consider the information they could learn against the anxiety they may experience. Mainstream Genomics' free information guide entitled Genetic Screening During Pregnancy gives a basic introduction. The guide Saying No to Prenatal Testing may be especially helpful for people who may prefer to skip prenatal screening.
3. True: Prenatal genetic screening is not regulated by the FDA.
Most people and some health professionals don’t realize that laboratory testing is not subject to the same FDA regulation as pharmaceuticals and medical devices. There was an effort beginning around 2010 to explore such regulation, including genetic testing. It was dropped in late 2016.
Medical laboratories are regulated through the Clinical Laboratory Improvement Amendments or CLIA at the Centers for Medicare and Medicaid Services, or CMS. CLIA oversees the operations of the laboratory. However, it doesn’t perform in-depth evaluation of tests for clinical validity like the FDA does for efficacy of drugs and medical devices.
4. False: NIPT laboratories are similar to Theranos.
Theranos’ founder Elizabeth Holmes was convicted on multiple charges of fraud committed against investors. NIPT laboratories providing testing today are not accused of fraud. These laboratories and academic researchers have published a large volume of peer-reviewed scientific research to support their tests.
However, increased regulation of genetic testing could help ensure marketing communications are appropriately balanced, and we can provide tools to busy healthcare providers to help them educate their patients about the goals, risks, and limitations of prenatal genetic testing. And the earlier patients are provided this information – even before pregnancy – the more options they will have and the more confident they can be in their screening decision.
5. True: Valuing diversity in our society must include the perspectives of people with disabilities.
This point is not explored very much by the New York Times story. A key tenet of screening programs is that early treatment could prevent or lower the burden of disease. Although treatments are available for a few rare genetic diseases, most prenatal screening programs aim to provide either the option of pregnancy termination or the ability to prepare for a child with special needs. This may change as more and more treatments are developed for rare genetic conditions.
The lives of people with developmental disabilities have value in our society and in their families. That value should be considered along with the challenges of raising a child with differences. It is also critical to realize that not all prospective parents want to learn about the health of their unborn child. That decision is personal and should arise out of a careful discussion to obtain informed consent. As stated above, healthcare providers need tools to help serve the interests of diverse patient populations. Our free information guides, written by genetic counselors, provide some basic introductory information about prenatal genetic testing.
Prenatal Genetic Screening in the Future
It’s likely that these types of genetic screening tests for rare disorders will continue to be offered and in fact, expand. Although rare inherited diseases are individually rare, they are collectively common; in fact, 1 in 16 Americans has a rare disorder. Genetic testing is advancing rapidly and is likely to allow increased detection of these disorders. Some prospective parents will want screening for more and more conditions while others will not.
Most important: People who are planning for pregnancy or fertility care can plan ahead for prenatal screening.
As stated above, Mainstream Genomics provides free information guides as an introduction to the benefits and limitations of prenatal and preconception screening. These guides are not comprehensive and should not be used in place of talking with a genetic counselor, but they may help prospective parents get started.
Finally, Mainstream Genomics is dedicated to developing unbiased software tools that better support busy prenatal care providers to serve the diverse and increasing needs of their patients with regards to genetic testing.
Sources and Resources:
American College of Obstetricians and Gynecologists (ACOG) Frequently Asked Questions: Prenatal Genetic Diagnostic Tests. https://www.acog.org/womens-health/faqs/prenatal-genetic-diagnostic-tests, accessed January 5, 2022.
Centers for Medicare and Medicaid Services. Clinical Laboratory Improvement Amendments. https://www.cms.gov/Regulations-and-Guidance/Legislation/CLIA, accessed January 6, 2022.
Ferriera, CR. The Burden of Rare Disease. AJMG 2018Chiu et al., 2018; Walker et al., 1.5–6.2% 2016.
Kliff S and A Bhatia. When These Prenatal Tests Warn of Rare Disorders, They Are Usually Wrong, The New York Times, January 1, 2022. https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html#commentsContainer, accessed January 2, 2022.
Kliff S and A Herndon. An Investigation into Flawed Prenatal Tests, The Daily Podcast, The New York Times, January 4, 2022. https://www.nytimes.com/2022/01/04/podcasts/the-daily/prenatal-tests-pregnancy-birth.html#commentsContainer, accessed 1/4/2022.
Lee H et al, Cancer Screening and Diagnostic Tests in Global Context: Case Study and Concept Analysis Asia Pac J Oncol Nurs. 2019 Jan-Mar; 6(1): 86–93.
National Cancer Institute, Cancer Screening. https://www.cancer.gov/about-cancer/screening, accessed January 5, 2022.
National Society of Genetic Counselors Find a Genetic Counselor Tool. https://findageneticcounselor.nsgc.org/?reload=timezone, accessed January 5, 2022.
Society for Maternal-Fetal Medicine Prenatal Screening Using Cell-free DNA. https://www.highriskpregnancyinfo.org/cfdna, accessed January 5, 2022
Wilson J, Junger G. Principles and practice of screening for disease. Geneva: World Health Organization; 1968 https://apps.who.int/iris/bitstream/handle/10665/37650/ WHO_PHP_34.pdf?sequence=17, accessed January 6, 2022.
World Health Organization. Screening programmes: a short guide. 2020. https://apps.who.int/iris/bitstream/handle/10665/330829/9789289054782-eng.pdf, accessed January 6, 2022.