by Craig Klugman, Ph.D.
The National Institutes of Health wants to know the DNA of our babies. The government is not looking to diagnose babies and help them live better lives. The NIH wants to know if it’s economically feasible to scan the DNA of every newborn and what social/ethical implications of that would be. Toward that end, the NIH is funding $25 million dollars over the next five years with four, $5million grants already awarded. These grants will examine the economics, health, privacy, and interpersonal issues in newborn genomic screening.
Today, all newborns are screened for at least 26 different conditions and diseases that can be treated or prevented if interventions occur early. For examplea simple blood test can detect phenylketonuria (PKU). With PKU, the child lacks an enzyme to digest phenylalanine, which can build up and cause brain damage. By knowing of this condition early, the child can be given a low-phenylalanine diet that reduces the risk of brain damage. Other states mandate additional tests, which can make the total screenings near the number 50. The cost for screening is around $100 in general.
The new proposal would move from blood screening for problems that can be prevented or fixed with early intervention to a genomic analysis. The new genomic screening currently costs about $5000 per child and takes 50 hours to get a result. The genome test purports to show what conditions a child may be vulnerable to at some point in life. For example, if a child has a predisposition to developing heart disease, then that child can be kept on an aggressive heart healthy diet from an early age and prevented from playing contact sports. If a DNA profile demonstrates what drugs the child will react better to, than health issues may be treated faster. Another reason for this trial is that currently anyone can choose to get his/her DNA profiled through a small army of private companies. The trials assume that the genie is out of the bottle and examines whether genetic screening makes sense, is helpful, and is cost affordable.
The testing will occur in four cities throughout the country: Boston, Kansas City, San Francisco, and Chapel Hill. Each site will conduct their research differently. The University of California San Francisco will examine retrospective newborn screening samples from 1,400 children. This means that these parents and children are unlikely to even know that their samples and DNA are part of the study. Boston Children’s Hospital will have 480 newborns in their study with one-half getting standard screening and one-half receiving that plus genomic testing. At UNC, the genomes of 400 infants will be sequenced to “determine what useful clinical data can be acquired through the tests.” They will compare the results from health children with those who may have genetic disorders.
These studies are focused on feasibility and economics. The privacy and ethical issues weigh large, however. Although parents will consent for the Boston Children’s study (but not for the primary UCSF retrospective study—though a second arm to the study will request parental consent for genetic testing at the immune system disorders clinic) can anyone at this point know the implications of having a genome read for the future of these children? Will the results haunt these children through their lives? Maybe school insurance won’t cover them to play in sports if they are shown to have certain predispositions in their DNA? This study reminds me of the film, GATTACA, a dystopia where a DNA test at birth determines a child’s entire life. If you want a job, your accomplishments matters not at all; what counts is your genetic profile. The tests in the NIH project could create limits on these children and the choices they may might to make. You have a high chance of joint damage—not sports for you! On another hand, parents may enroll their children in classes and programs based on the DNA rather than a child’s growing interests and desires to explore the world. Your child has genes that suggest an aptitude for music, and it’s straight off to intensive music camp and a crib experience courtesy of Baby Einstein.
The fact that a trial is being done regarding the economic, social and ethical issues in this new technology is encouraging—that as a society we are looking at the implications of a technology before it is deployed. The risk is that the technology that is ready to be released in five years will be well beyond what is actually being studied now. In addition, the economic deployment of testing seems to be getting more press if not more emphasis than looking at the ethical and social implications. One regulatory ethics question comes to mind, should there be a higher level of understanding necessary for parents to consent to a procedure that may haunt their children later in life?
If this whole program seems farfetched, consider that for $99 some private companies will sequence certain parts of your DNA and send you a report with the results and what they may mean. And in another report this summer, a child was born as a result of in vitro fertilization to a couple aged 36 and 41 after several rounds of in vitro fertilization (IVF). That in itself is not remarkable. What is unusual is that this fetus was chosen after a laboratory read the DNA of 13 embryos created when a couple went through IVF. The DNA tests showed that several of them lacked a normal number of chromosomes. The question is why the NIH is spending so much time and effort exploring the feasibility of newborn genetic screening when it becomes more likely that such testing will occur before a pregnancy even begins. While this time the technique was used to choose the healthiest embryo, the technique could also help choose for embryos that lack certain diseases and predispositions. As our ability to read DNA improves, even such factors as height, intelligence, athletic ability, hair color, and more may come into the selection choice. In other words, the film GATTACA may be much closer than anyone feared or hoped.