The medicine of the future will be genomic. That means each patient’s genes can predict what asthma medication or cancer treatment will be most effective. Your genes can partly predict what diseases you get when you’re 50.
Genomic medicine is inextricably linked to information, and health-care policy now and forever is inextricable from information-sharing. “Privacy” was the enemy of unborn life in Roe v. Wade, but the goal of public policy now ought to be to make privacy the friend of life in genomic medicine.
Technically, it now is easy to sequence a genome. In fact, genome sequencing is common among the approximately 14 percent of the four million newborns in the United States each year who are admitted to neonatal intensive care units (NICUs).
The Benefits of Genome Sequencing at Birth
It’s still expensive—about $5,000 per person to sequence his or her whole genome. However, most diseases come only in the protein-coding DNA known as the exome. This can be decoded for a mere $1,000 and identify hundreds of diseases to which an individual is susceptible. Testing for just a single genetic disorder costs hundreds of dollars, by comparison.
From the cost-benefit perspective, therefore, it makes sense to sequence the entire genome. “We are at a point now where powerful new genome sequencing technologies are making it faster and more affordable than ever to access genomic information about patients,” says Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the National Institute of Health (NIH).
For generations, it has been standard practice to prick every newborn’s heel and test his or her resulting drop of blood to screen for five metabolic disorders, such as PKU. Most parents are probably only vaguely aware of this test, since doctors share the results only when they show the child needs immediate intervention.
But there are other diseases where early intervention can be beneficial, and they are not routinely tested for. Some diseases may not show up for several years and may be hard to diagnose. Some dispositions to diseases may not show up for decades, but they can all be discovered with genome sequencing.
Pilot Projects to Genome Sequence All Newborns
Genomic sequencing might be the heel prick of the future. A federal pilot project may turn out to be the charting of the course to do just that.
Two years ago, the National Institute of Child Health and Human Development (NICHD) and NHGRI jointly launched a $25 million research project at four major hospitals to sequence the genomes of newborn babies. Because these are just pilot programs, and they’re studying only newborns, the results of the sequencing will not be sent to a shared research database, which NIH requires for adult disease studies.
Parents whose infants are found to have diseases that need childhood intervention will be given the test results. None of the parents will be told of adult-onset diseases.
The study at Children’s Mercy Hospital in Kansas City aims to get the time for genetic sequencing down to 50 hours for infants in the NICU. At Brigham and Women’s Hospital and Boston Children’s Hospital, the team will randomly assign 480 healthy and sick newborns to two groups: one to receive conventional newborn screening, and the other to have their genomes sequenced. In future years, researchers will share results with parents and pediatricians, and watch to see how this information affects the child’s medical care.
Lawmakers Must Plan for Tomorrow Today
Two aspects of this are particularly interesting. First: who will have the information after the sequencing? Genetic information is private. How private information is obtained and used are matters of great moral and legal import.
These pilots are small studies, and the information discovered is planned to be closely controlled, and probably will be. Also, some information is being shared with parents. Good on both points. But go beyond the present, maybe a few decades into the future. Suppose genomic sequencing of newborns becomes commonplace. Who, then, will have the rights to know the test’s results? This question needs the attention of policymakers now.
Set aside the ever-present question of “who has the right to information” and “who has information.” Of course, there will always be leaks, hacks, security breaches, and politics. The point is, however, that citizens need laws that govern who has access—in other words, privacy protection. Now is the time to make policy about who will have access to the genetic information gleaned in infant genome sequencing.
Some possibilities are obvious. What about insurance companies? They will have paid for the test, after all. If medical records become digitized and follow us for life, as they are supposed to, obviously every future doctor who ever sees the person will demand access. Should the results of genome sequencing be attached to permanent digital records?
What about future employers? Some ask for health records as part of a screening process. The Army is forbidden to save DNA samples of all soldiers once they muster out (thanks to a lawsuit years ago). But I can foresee a lawsuit arguing that certain employers need to know the mental health pre-dispositions of possible employees, some of which can be genetically-linked.
Might schools demand access to medical records so they can verify vaccinations? Current debates over vaccination make that scenario less than fantastic. More dystopic is this: some genetic conditions pre-dispose a child to learning disabilities—whether they ever manifest as such or not. The school environment already is highly susceptible to self-fulfilling prophecies. How would teachers treat students differently if they had students’ genetic information?
Will genetic information be shared with future spouses? Decades ago, premarital blood tests were required to discover diseases that could harm future unborn children. The rise of politically-correct diseases speeded the disappearance of those laws, but the impulse to produce a perfect race is never far from progressivism’s aspirations.
Genome Sequencing and Licensing Parents
In 1980 Princeton University Press published a book arguing that government should license people to become parents, “Licensing Parents,” by Hugh LaFollette. Academic journals and law reviews today routinely address the same question. Current Internet surveys and popular debates find 75 percent of respondents saying “yes” to the question: should people be required to obtain a parenting license to have a child? That’s not a valid survey, of course—but the drift is clear.
Genetic information certainly would be an indispensable part of any government pre-pregnancy permission-granting process. The potential implications are spine-chilling.
Another thing that concerns me is an aspect of the studies buried in the NIH press release. In the Brigham study, “Parents will … be asked about the impact of receiving genomic sequencing results and if the information was useful to them.” The Mercy Children’s study “will try to determine if parents’ perception of the benefits and risks associated with the results of sequencing change over time.” With the UC-San Francisco study, “the researchers will explore parents’ interest in receiving information beyond that typically available from newborn screening tests.” The University of North Carolina study will “help identify the best ways to return results to doctors and parents. The investigators will … develop best practices for returning results to parents after testing. … This study will place a special emphasis on including multicultural families.”
In marketing terms, these studies are asking, “How will consumers will react to the product?” That is a valid question for a new product launch. Newborn genomic sequencing certainly is a new product. But is this really a new product? If it’s a new product, will it be in the private sector, and will consumers be free to buy it or not? In which case, in this study is the government doing what amounts to market research for some future manufacturer?
Or is genome sequencing of newborns being explored as a future component of mandatory public-health policy—the heel prick of the future? It certainly seems that one purpose of the ongoing research projects may be to lay a groundwork for further research on how medical personnel can “manage” parents.
And that is something to think about.
