A national organization says data from newborn blood spot screenings are stored by the government and used for research without parental permission.
The government has your baby’s DNA — should you be worried?
Some people think so.
The ubiquitous practice of newborn blood spot screening may seem harmless enough.
Babies born in the United States have a small amount of blood taken from their heels within the first 48 hours after they are born.
That sample is then used to screen for a panel of inheritable disorders and congenital defects, including sickle cell anemia, cystic fibrosis, and many others.
Blood samples are taken from more than 4 million infants each year, according to the National Institutes of Health (NIH).
But, it’s what happens after those initial tests that some parents are unhappy about.
Depending on what state you live in, those blood spots could be stored by the government for six months, 20 years, or even indefinitely.
The newborn screening program has existed in the United States since the 1960s.
It began in Massachusetts in 1962, but other states quickly adopted variations.
According to a 2014 report in Newsweek: “Ten years ago, 46 states were screening for just six conditions; now all 50 states and the District of Columbia routinely screen newborns for at least 30 genetic conditions.”
Stored samples are often used for quality assurance purposes by newborn screening programs to “maintain a state’s ability to provide high-quality newborn screening services.”
However, according to the Citizens’ Council for Health Freedom (CCHF), a Minnesota-based advocacy group, these stored samples are also used for state or federal research purposes.
The organization adds the samples are sometimes sold to third parties without the knowledge or consent of parents.
“It’s one thing for newborn blood samples to be tested for a specific set of newborn genetic conditions,” Twila Brase, co-founder and president of the CCHF, told Healthline. “It’s entirely another for the government to grant itself the right to store that data and those DNA samples indefinitely, to use them for genetic research without parental knowledge or consent.”
The organization isn’t the only one concerned.
An Indiana man and his wife headed across the border to Canada for the birth of their second child because they were so dismayed at the discovery that blood samples were being kept by the government.
Families in Texas and Minnesota have won lawsuits against the government to have stored blood spots destroyed over privacy violations.
A lawsuit against Texas Health and Human Services (HHS) in 2009 resulted in the destruction of more than 5 million infant blood spots. The state’s HHS was found to have given de-identified blood samples to different research organizations, including the Armed Forces DNA Identification Laboratory (AFDIL).
In Minnesota, 21 families won a lawsuit in 2011 when the state’s Supreme Court found that storage and use of blood spots beyond newborn screening panels was in violation of the state’s genetic privacy laws. One million blood spot samples were destroyed following the ruling. There was also a $975,000 payout from the state for the families’ legal fees.
However, that decision was later reversed, and in 2014 Minnesota once again began storing newborn blood spots. Under the new law, parents were given an opt out option if they did not want to have their child’s DNA stored and/or used for research purposes.
Today, the discussion around newborn blood spots is largely framed as one of privacy and individual rights vs. public health benefits.
“There has not been a good national discussion about the use of these samples,” Jeffrey Botkin, a bioethicist at the University of Utah, told the Washington Post. “Genetics is an area that touches a nerve. The public is concerned about massive databases.”
Organizations such as the CCHF represent one side of that discussion, while medical researchers and state health departments represent the other.
“Newborn screening has been hailed as one of the most successful public health programs of the 21st century,” wrote members of the Berman Institute of Bioethics at Johns Hopkins University in 2012. “The research community must advocate for policies and infrastructure that promote retention of residual dried blood samples and their use in biomedical research.”
Amy Gaviglio, a genetic counselor with the Minnesota Department of Health who has been on the front line of the ongoing debate, told Healthline that newborn blood spots not only allow for more and better screening protocols for infants, they are also used to develop new tests.
She notes that in Minnesota the consented use of blood spots has, for example, been used in recent research into mercury levels in the Lake Superior basin and its correlation with birth defects.
These samples have also been used to study childhood leukemia, environmental toxins, and HIV, among other things. They can also be utilized in the case of infant or childhood death for further investigation into potential congenital conditions.
“They have been used, at the request of parents, so, again, consented, for closure and for more information that is really health-related,” said Gaviglio.
Newborn blood spots used in research have been de-identified, meaning that the samples do not contain demographic information that would allow them to be traced back to the person they came from.
Organizations like the CCHF say that this simply isn’t enough to protect individuals.
Some researchers seem to agree.
Yaniv Erlich, a computational biologist, told Newsweek that, “Right now we don’t know a way to guarantee anonymity from the technical aspect.”
Erlich published a paper in 2013 where he and his co-authors demonstrated how it was possible to identify individuals from supposedly “anonymous” DNA samples using freely available, public information.
Brase argues that there is the potential for discrimination against individuals based on genetic factors if the information is somehow disclosed to the public, or a potential employer.
“Your entire genetic code could be known by the government, for whatever their purposes are,” said Brase, “including, perhaps, discouraging certain people from marrying as they do in some other countries.”
Gaviglio sees the issue another way.
“As long as we are transparent in the fact that this happens and we give parents options to say ‘No, I’m not comfortable with that,’ or ‘Don’t use it for research,’ the potential … so far outweighs the risk,” she said.
What appears to be most important for all parties involved is that there is more and better information available to parents on their rights when it comes to newborn bloodspot screening.
“There has been good that has come out of this. There’s certainly, on a national level, a much heightened focus on the need and importance of education, not just of parents, but of the public, of providers,” said Gaviglio.
One study on public opinion of newborn blood spots found that the majority of respondents were “very supportive” of newborn screening and research. However, respondents also heavily favored an “opt in” approach for storage and research uses of the samples.
The study concluded, “Greater transparency and increased education by public health programs about these policies and practices are likely to be important in maintaining public trust and acceptance for these valuable programs and research activities.”
As the conversation around newborn blood spot screening continues, there is one thing that is certain: The issue isn’t going away anytime soon.
“I see it only getting bigger,” said Brase.
“We’re going to have to refocus a significant amount of effort in that up-front communication transparency and provide the flexibility for patients, parents, and families to choose a path that they are most comfortable with,” said Gaviglio.