Just because something new can be done, doesn’t mean it should be done. This phrase came to my mind when I was reading a recent study on newborn genetic sequencing in JAMA Pediatrics. This randomized trial examined the impact of newborn genetic screening of healthy babies on families’ psychosocial impact — measures of mother-child bonding, post-natal depression, and parents’ marital satisfaction. They found that compared to families that received standard newborn screening, families that received a genetic sequencing report did not experience negative psychosocial impacts after ten months.
The study’s findings were reassuring to those who advocate for expanding newborn genetic sequencing. However, just because sequencing has not been shown to cause psychosocial harms doesn’t mean it is worth pursuing. The potential harms and benefits of sequencing the genome of every infant has to be examined much more closely, to find out whether this medical service should be expanded.
The promise of genetic sequencing
The history of genetic sequencing has been one of promises and disappointment. At the turn of the 21st century, former director of the genome agency at the National Institutes of Health Francis Collins predicted a “complete transformation in therapeutic medicine” in the next decades, led by genetic sequencing of diseases and treatments. Twenty years later, this “genetic revolution” has not come to pass, and in fact, life expectancy has been on the decline.
Why has it been harder than expected to harness the power of genetic sequencing? In perspective piece in the Journal of Clinical Investigation, Dr. Michael Joyner at the Mayo Clinic and Dr. Nigel Paneth at Michigan State University explained some of the obstacles.
“Extensive analyses of thousands of potential gene-health outcomes often fail to match, let alone exceed, the predictive power of a few simply acquired and readily measured characteristics such as family history, neighborhood, socioeconomic circumstances, or even measurements made with nothing more than a tape measure and a bathroom scale.”
This is because few health conditions are connected to just one gene variant, making them difficult to assess disease risk using genetic information alone. Common health conditions such as high blood pressure, diabetes, cardiovascular disease, and many cancers, are each “linked to many hundreds of gene variants that individually and even collectively explain only a small fraction of the variance in disease frequency,” they write.
Josephine Johnston, director of research at the Hastings Center, and colleagues provided similar caveats in their 2018 report on newborn genetic sequencing. They have concerns that sequencing will lead to children being labeled as “patients in waiting,” exposing children to unnecessary interventions, monitoring, and stigma. Other experts have pointed out that genetic testing results could make parents overcautious, preventing children from pursuing certain activities. An exaggerated perception of a child’s health risks, known as “vulnerable child syndrome” can lead to “overuse of medical services, possible unnecessary interventions, and poor parenting practices, parent-child attachment, and child development.”
Assessing risk is more difficult than it seems. Even clinicians consistently overestimate the prevalence of medical conditions. How can parents interpret what an elevated risk of certain medical conditions means for their child, or what they are supposed to do about it? What if parents want to make changes for the sake of their child’s health, but they are unable to because of environmental or economic constraints? So much of our health is determined by the social and environmental conditions in the communities in which we grow up, and knowing the results of a genetic test can’t change these conditions.
Where do we put our resources?
Even if newborn genetic sequencing does not lead to psychosocial costs, there is still a significant opportunity cost to making this service widespread. Should we even be investing in genetic sequencing for newborns when are crises in infant and maternal health that need our attention?
Around the same time the JAMA Pediatrics article, I also saw an article in Pediatrics on newborn complications at New York hospitals. Researchers looked at 40 hospitals in the New York City area, and compared the rates of unexpected complications for low-risk births, controlling for patient risk. The rates of complications ranged from 3% in some hospitals to more than 16% in others. Black and Hispanic/Latina women were much more likely to give birth in a hospital with high complication rates, compared to white or Asian American women.
Such a large gap in quality of care for newborns is unacceptable. We need much more resources invested in hospitals that lack the infrastructure or processes to reach the level of quality similar to other hospitals. During the Covid-19 pandemic, the danger of maternal death for Black women has become even more stark. Expanding Medicaid coverage, increasing awareness and programming to reduce bias against Black mothers, reducing unnecessary procedures, and many other policies included in the Black Maternal Health Momnibus Act are necessary to reduce these disparities.
We have to direct our resources to addressing the twin crises of maternal mortality and newborn complications that are so prevalent for women of color, before we turn to genetic sequencing of healthy babies.