What Is Whole Genome Sequencing for Newborns?

pregnant DNA

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New parents have a deep desire to be as well informed as possible about the health of their newborn. They get one or more sonograms while their baby is in utero. After birth, their baby is carefully examined and receives a blood test (the newborn screening test) to detect certain disorders and health problems. In their first few months of life, newborns visit the pediatrician monthly, or even more, to make sure they are growing and developing properly.

It might seem like a lot, but parents usually welcome any and all information about the health and well-being of their newborn. But what if it were possible to take things a step further? What if substantial amounts of a newborn’s DNA could be studied and analyzed soon after birth, giving parents even more information about potential health concerns for their babies?

Enter whole genome sequencing, a controversial form of genetic testing that may be on the horizon soon for parents and healthcare providers everywhere. The question is whether its benefits outweigh the ethical controversies surrounding it, and whether it should become a universal or limited practice.

What Is Whole Genome Sequencing?

Whole genome sequencing, or newborn genomic sequencing, is something that has been in the works for the past decade, as DNA testing in general has become more detailed and technologically advanced. It builds on the genetic testing that is already in use for older children and adults.

Whole genome sequencing for newborns is essentially the practice of collecting and analyzing large portions of a newborn’s DNA, revealing certain genetic disorders that the newborn might be at risk of developing in infancy, childhood, or later in life. Testing usually involves a blood test or a cheek swab. As the testing procedures have become more fine-tuned and more cost-effective, researchers have proposed that all newborns' DNA be sequenced.

Whole Genome Sequencing vs. Newborn Screening

Whole genome sequencing is often confused with the newborn screening test, a blood test used routinely in hospitals after babies are born. Although testing protocols vary from state to state, there are up to 34 different genetic, metabolic, endocrine conditions— including phenylketonuria (PKU), congenital hypothyroidism, and sickle cell disease—that newborn screening tests can currently detect. The test is usually given within the first week of life, and up to 98% of newborns receive it.

It should be noted that whole genome sequencing isn’t meant to replace newborn screening blood tests, but rather greatly expand the number of health conditions tested, allowing more newborns to be treated for potential health conditions.

What Are the Ethical Concerns?

Imagine you were told that your otherwise healthy newborn had an increased chance of developing a serious disease or health condition later in life, but your doctor wasn't sure when—or even if— that would happen. Would you want to know about it? And how do you know that your child would want to live with that information throughout their life? How might it affect their health insurance, their privacy, or their emotional well-being?

These are some of the ethical questions raised by genomic testing and sequencing.

Because much of the data gleaned from whole genome testing isn’t necessarily about disorders that will impact newborns now, but later in life—and because the tests may not definitively tell you whether your child will develop the disorder, only that they are at an increased risk—many experts warn that genome sequencing may create more problems than it solves.

Some of the ethical concerns raised by experts and researchers include:

  • Since newborns cannot give informed consent for medical procedures, are we violating their rights by testing them for diseases and health conditions that might not affect them till adulthood or even old age?
  • What are the privacy considerations for whole genome sequencing?
  • Might the information about a newborn’s health status affect their ability to receive health insurance in the future—for example, if the statute making it illegal to deny health insurance due to “pre-existing conditions” were overturned?
  • What about life insurance, long-term care insurance, or future employment prospects?
  • If it turns out that some of the genetic tests are poor predictors of future diseases, have we inundated parents and their children with unnecessary fear and stress?

When Might Whole Genome Sequencing Be Beneficial?

Although there is controversy regarding the prospect of whole genome sequencing for newborns becoming a universal practice, most experts agree that in certain limited situations, these tests can be very beneficial—even life-saving.

For example, in their special report, “The Ethics of Sequencing Newborns: Recommendations and Reflections,” researchers from The Hastings Center say that newborns already showing signs of a genetic disorder would benefit greatly from whole genome sequence testing. However, they don't recommend that it become a standard practice in the same way that newborn screening blood tests are.

"Genomics is a powerful tool, but the results it returns are still not fully understood and have not been proven to advance health outside of very specific clinical situations," said Josephine Johnston, research director at The Hastings Center, in a press release. "The recommendations embrace the use of genomics to aid in the diagnosis of sick newborns, but they draw a sharp distinction between that kind of focused clinical use and population screening."

Johnson and her colleagues have a list of recommendations for the future of whole genome sequencing:

  • Targeted genomic sequencing should be used by healthcare providers when a newborn has symptoms of a suspected genetic disorder. In these cases, whole genome sequencing will help healthcare providers diagnose disorders and decide upon proper medical management.
  • They are against universal whole genetic sequence testing for newborns, citing ethical and financial concerns, as well as unnecessary stress for parents.
  • They don’t recommend parents seek “direct-to-consumer” genome testing, where parents hire third-party companies to have their newborn’s genome sequenced. They believe this practice can be confusing for parents, because these companies may not provide adequate medical follow-up or clear interpretation of results. They urge healthcare providers to recommend against this practice as well.

Is Whole Genome Sequencing Right for You?

At this point, whole genome sequencing is not something that is offered routinely in hospitals after birth. However, if your newborn is exhibiting signs of a possible health condition that could be detected by newborn genomic sequencing, their healthcare provider may order testing to be done. In addition, some parents have chosen to use third-party entities (i.e., “direct-to-consumer” companies) to have their newborns' genomes sequenced.

Whole genome sequencing might be right for you if:

  • Your baby is showing signs of a health condition or disease. Certain genetic disorders are not always detectable on the routine newborn screenings offered in hospitals, so having your baby’s genome sequenced might help detect rare genetic disorders.
  • Genetic diseases run in your family. In this case it might make sense to have your baby’s genome tested so that you can be informed and make arrangements to protect your newborn’s future health.
  • You are someone who believes having as much medical information about your child as possible is best, and you have carefully weighed the ethical considerations.

Are Most Parents Interested in Whole Genome Sequencing?

Whole genome sequencing is still a fairly new technology. Not many parents know it even exists. Still, according to the limited research available, many parents would be interested in having their newborns tested, or would at least like that option.

In a study released in The Journal of Pediatrics, researchers found that the majority of parents who are offered the choice to receive whole genome sequencing for their newborn are interested. Dr. Cynthia Powell, the study leader, told NPR that parents should at least be given the choice so that they can make an informed decision.

Powell and her team of researchers specify that it makes sense to offer genetic testing for disorders that will affect their baby now or in the near future—not for disorders that are difficult to plan for in childhood, such as Alzheimer's disease.

"We found that most people who were allowed that choice, about 70% of individuals, wanted information in all of the categories that we offered," Powell told NPR.

A Word From Verywell

As with any medical test or procedure, you should not make the decision to pursue genomic sequencing alone. If you believe your newborn should receive testing, discuss this with your baby’s pediatrician. If you are still unsure, it can’t hurt to get a second opinion, especially if your baby is showing possible signs of a genetic disorder or if serious genetic disorders run in your family.

Often, decisions like whether to pursue certain medical tests can be fraught with uncertainty. You may feel unsure about whether to go down the rabbit hole of “what ifs” and possibly endure unnecessary stress. On the other hand, learning important medical information about your child might mean that you can get the right kind of care for them. It could mean being able to save their life now, or down the road.

In most cases, your best bet is to educate yourself, discuss your options with trusted medical professionals…and then, if you are still confused, check in with your “parental gut.” You know your child best, and you can let your instincts guide you as to whether whole genome sequencing might be right for you.

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  • Harris R. The Promises And Pitfalls Of Gene Sequencing For Newborns. NPR. July 8, 2019.

  • Milko LV, et. al. An age-based framework for evaluating genome-scale sequencing results in newborn screening. The Journal of Pediatrics. 2019; 209:68-76. doi: 10.1016/j.jpeds.2018.12.027

  • Should All Babies Have Their Genomes Sequenced? The Hastings Center. Updated August 2018.

  • The Hastings Center. The Ethics of Sequencing Newborns: Recommendations and Reflections. Published July/August 2018.

  • What is newborn genomic sequencing? U.S. National Library Of Medicine. Updated January 2018.

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