Adjusted from The Factor Motorcar: How Genetic Technologies Are Changing the Style We Have Kids—And the Kids We Take, by Bonnie Rochman, by arrangement with Scientific American/Farrar, Straus and Giroux (Usa), China Renmin Academy Press (Prc). Copyright © 2017 past Bonnie Rochman. All rights reserved.

In 2010 in Texas, Jennifer Garcia had a baby, a niggling brother for her 4-year-old son. She named him Cameron. Garcia had opted to exercise prenatal testing for conditions that included Down's syndrome and cystic fibrosis with both boys. The tests came back fine. Once her sons were built-in, she did non recollect twice most having their heels pricked in the hospital and the resulting droplets of blood scanned for about 30 diseases that make up the standard newborn-screening test administered to babies born in hospitals throughout the Lone Star State.

Months passed, and Cameron grew, lifted his head, smiled at his parents. He looked healthy and strong, hovering in the 90th percentile for pinnacle and weight for babies his age. He laughed at the family domestic dog. He learned to logroll beyond a room to reach a toy. And then, at seven months old, he got pneumonia. In the hospital, he suffered seizures and had to be intubated. CT scans and MRIs followed, then EEGs, spinal taps and blood transfusions.

No one knew what was wrong. First, doctors idea Cameron had meningitis, and so pertussis, then tuberculosis, and then they plied him, just in case, with antiseizure medications, antibacterials, antivirals and antifungals. Specialists came and went, teams from disquisitional care, pediatrics, neurology, epileptology, toxicology, immunology, communicable diseases, respiratory therapy. X days subsequently he was admitted to a major medical center in Houston, an answer to what was ailing Cameron finally emerged: an immunologist suspected he had severe combined immunodeficiency, a genetic disorder otherwise known as bubble boy illness. Children with severe combined immunodeficiency, or SCID, do not have a operation immune arrangement, which was why Cameron was not getting improve.

The diagnosis perplexed Garcia and her husband, John. They had no family history of SCID. In fact, they had never even heard of it. In whatsoever instance, wasn't Cameron'due south newborn-screening examination supposed to selection it upwards? Garcia started researching, and what she found left her in disbelief. Severe combined immunodeficiency is detectable via newborn screening, using the aforementioned dried blood spots that the Texas Section of Land Health Services analyzes for the other diseases for which information technology scans. Simply Texas, forth with most states at the time, did not screen for SCID. When SCID is identified early, earlier a baby falls seriously ill, a os marrow transplant usually tin cure the otherwise fatal condition, considering it serves to supercede the compromised immune system with a healthy version. More 90 percent of babies who receive transplants in the showtime iii and a one-half months of life recover. Cameron was already viii months one-time at his diagnosis, badly ill and fighting for his life.

Understandably, Cameron'southward mother emphasizes the downsides of non screening for a affliction if information technology is technically feasible. Cameron was born just one month after SCID had been added to the national list of recommended core newborn-screening weather. Still more two years would pass before Texas would begin screening every baby for SCID. That was far too belatedly for Cameron, who died on March 30, 2011. He was nine months old.

Since the nighttime she left the hospital without Cameron in her arms, Garcia has get an activist who was ultimately instrumental in persuading Texas to include SCID among the diseases for which information technology screens. Knowing that all babies built-in in Texas hospitals are now tested for SCID makes Garcia's loss marginally bearable. "I wanted his little life to have meant something non merely to our family.... I wanted people to know this lilliputian baby changed things and opened eyes for a lot of people...," Garcia said in a video almost the importance of screening for SCID. "If we would accept known Cameron had SCID, if nosotros could have found that out before, earlier any infections, admittedly, 100 per centum, Cameron would be here today."

But what if we did non accept to become through the fourth dimension-consuming procedure of adding new diseases, one by 1, to the list of disorders that newborn screening tin can notice? What if one examination could look for many of the diseases that newborn screening identifies, plus lots more?

The question is not hypothetical. In highly anticipated research that stands to overhaul what we know about health from the first moments of life, the National Institutes of Health has charged four university medical centers with studying the medical, behavioral, economic and upstanding implications of using genome sequencing to map out the entirety of babies' genetic code. Would it be wise to sequence every babe'south genome?

A Thorny Issue

There are obvious benefits. Far more children who are at risk could be identified, allowing earlier treatment for someone whose life, similar Cameron Garcia's, hinged on early on detection. But inevitably, some parents will have to cope with finding out about health problems that cannot be mitigated and about the genetic missteps called variants of uncertain significance whose touch on is unclear: they could signal a problem, or they could simply exist a string of Dna gobbledygook.

Depending on what results are returned to parents, many moms and dads will current of air up finding out that the bulk of their child's genome is still incomprehensible. Michelle Huckaby Lewis, a trained pediatrician and lawyer who researches genetics policies at the Johns Hopkins Berman Institute of Bioethics, worries that could cause problems. "The genetics and subspecialty workforces will not be staffed fairly to see the growing demand," she wrote in a commentary in JAMA Pediatrics. "Moreover, coveted appointments with subspecialists may be filled past children whose weather condition may not manifest until later on in life making access more hard for those whose needs are more than urgent."

NEWBORNS are already tested for a range of genetic conditions with a heel stick. The stick could likewise provide enough claret to screen for many more such disorders. Credit: Dan McCoyGetty Images

Regardless, information technology seems to be the direction in which health care is headed. "Nosotros are moving to a world where the technology will go then good and the cost will get then depression that it will be very highly-seasoned to use sequencing to not but ill people but well people," says geneticist Robert C. Green. Greenish co-leads the BabySeq Project, a newborn-screening study taking place in part at Harvard University–affiliated Brigham and Women's Hospital and Boston Children'southward Hospital, one of the four federally funded study sites.

BabySeq is examining how parents and doctors can apply genomic data to improve children's wellness care. Dark-green and his co-leader, Alan Beggs, are studying 240 sick and 240 good for you newborns. They are randomly sequencing one-half of each group to appraise whether parents of sick kids answer differently to sequencing results than do parents of healthy babies. Do parents of sick babies find the additional information helpful while parents of babies deemed healthy find information technology overwhelming? Does either group adopt the more limited picture provided by conventional newborn screening? What is the all-time way for doctors to incorporate this wealth of data into caring for the youngest and most vulnerable patients? The intent, Green says, is to answer some questions: "Is this scary or not? Is this useful? Is this likely to misfile the hell out of people or non?"

In a lead-upwardly to the study, Green and his colleagues surveyed parents soon afterward their child's birth to ask if they would desire to sequence their baby's DNA. They found a groundswell of interest in newborn sequencing. Three months later they went into greater item, explaining to parents exactly what kinds of data that genome sequencing could generate about their children—cancer risk, for instance, or predisposition for Parkinson'south disease.

The percent of parents who remained interested hardly budged. "This suggests in that location is a gigantic appetite out at that place for this, even in healthy babies," Green says. "It is going to be difficult to resist."

Still, sequencing a infant and "vomiting the results out to the family unit," equally Light-green characterizes information technology, "feels like it'southward very unsafe." The combination of broken-hearted parents and doctors trying to translate uncertain results seems specially volatile. "People are a scrap more sanguine well-nigh finding out stuff about themselves than they are about their kids," Greenish notes. "The salient question is harm. Depending on whom you talk to, there are all these theories about damage—most anxiety, distress, misconstruing information. All these questions are heightened when talking virtually babies considering they aren't able to have a choice. This is a outset opportunity to await for impairment."

Modeling the Future

When I visited Boston in the spring of 2015, the project was on the cusp of recruiting its first babe. I thought I would encounter with one researcher, maybe two, but was greeted by half a dozen people—neonatologists, geneticists, genetic counselors—in a hospital briefing room. Information technology takes a village to raise a child—and to hash out the details of sequencing that kid. They explained that BabySeq (which, by late 2016, had enrolled well-nigh 100 families) would limit the results it returns to parents to only those cistron changes that are linked to diseases that take root in childhood. The infants' parents and their pediatricians would also exist enrolled in the study, with the goal of assessing medical outcomes and impact on parent-child bonding, likewise as whether the data are useful and how they are incorporated into a child'due south wellness care. In other words, does the massive influx of data from genome sequencing translate into better health care for a child? Does the benefit justify the costs, financially and emotionally?

"If yous imagine a world where every baby could be sequenced apace, how would that data be used past their doctors to facilitate their care, to make a diagnosis, to prescribe medication?" Light-green asks. "We're trying to model that situation at a time when it's not really easy or cheap to sequence and doctors aren't used to dealing with it. We're trying to model the future."

But not a speculative, far-off future, if Dark-green's predictions are correct. "In 5 years, I am suggesting that sequencing will be given away as a freebie," he asserts.