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?
What Is Whole Genome Sequencing?
Whole genome sequencing builds on the genetic testing that is already in use for older children and adults. The genome is made up of DNA, which is made up of bases. When you know the sequence of the bases, you’ve found the unique DNA fingerprint. Finding the order of bases is called sequencing. Whole genome sequencing is lab procedure that determines the order of bases in a genome. 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 are considering whether all newborns’ DNA should 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, all states test for at least 26 different genetic disorders, with the most thorough ones checking for 40 conditions. Newborn screening is a combination of several tests—a blood test, a hearing test, and a critical congenital heart disease (CCHD) screening. Of the four million infants born in the U.S. every year, 99.9% or more of them receive a newborn screening.
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. Therein lies the dilemma that medical ethicists are examining as they consider widespread genomic testing and sequencing. Medical ethicists are concerned that routine whole genome sequencing could:
Cause parental distress that might interfere with bonding Cause unnecessary interventions and long-term monitoring Foster essentialist ideas about people and genes Reduce social identities to biological terms Result in confusion over results that are complex, uncertain, and difficult to discern Result in employment and insurance discrimination Result in the medicalization of a person’s life Trigger mental health conditions and suicidality Undermine privacy
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. Researchers at The Hastings Center have a list of recommendations for the future of whole genome sequencing:
Avoid third-party companies: Advise against “direct-to-consumer” genome testing, where parents hire third-party companies to have their newborn’s genome sequenced because it can be confusing for parents, and companies may not provide adequate medical follow-up or clear interpretation of results. They urge healthcare providers to recommend against this practice as well.Avoid universal screening: Targeted universal whole genetic sequence testing for newborns should not used due to ethical and financial concerns, as well as unnecessary stress for parents.Use selectively: 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.
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. 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:
Genetic diseases run in your family: In this case, you should talk to your doctor to determine if it might make sense to have your baby’s genome tested. It will ease your anxiety: If 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. You need a diagnosis: 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.
Who Uses 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 on parents’ interest in whole genome sequencing for newborns, 74% of parents were definitely or somewhat interested in having the test done as part of a state’s newborn screening program. Parents in the study identified test accuracy and the ability to prevent a child from a acquiring a disease as reasons for their interest in having their newborns’ genomes sequenced.
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. 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.
