In the U.S., virtually all newborn babies have their heels pricked when they’re between 24 and 48 hours old, typically before they leave the hospital. The purpose is to collect drops of blood to test for certain genetic, metabolic and congenital disorders, including phenylketonuria (PKU), cystic fibrosis, sickle cell disease and others.
This newborn genetic screening started in the 1960s with screening for PKU and is now required in all 50 states, although each state runs its own program. Today, all states test for at least 29 disorders, with some testing for more than 60, but some health care providers may still refer to it as the “PKU test.” The conditions included are those that can be effectively treated when caught early, preventing death or disability.
Not only is this the only test babies receive that’s performed by the state department of health, but it’s also mandatory, except in some cases of religious exemption. Every year, nearly 4 million U.S. babies receive newborn screening, and more than 5,000 are identified as having one of the screenable conditions.
Parents, in the hazy first hours after having a child, may or may not remember their baby receiving the heel prick — and won’t hear much else about it, unless their baby is diagnosed with one of the conditions. Yet, in some states, the blood drops taken from the child are not simply disposed of after the test.
Instead, they’re sent to storage facilities that, in some cases, keep them indefinitely, raising serious concerns about privacy, patients’ rights and the right of informed consent.
California Runs a Biobank Housing Every Newborn’s Blood
California is among a handful of states that store newborn blood spots indefinitely. When CBS station KPIX asked six new moms about the test, and subsequent storage of the leftover blood spots, they were shocked.
State law requires that parents be informed of their right to have the samples destroyed, but the information is hidden on Page 13 of a 14-page genetic screening pamphlet given to women along with a stack of other papers in the hours after giving birth — hardly a time when most parents will commit to sorting through folders of paperwork.
The pamphlet is supposed to be given to women once before their due date and again in the hospital before the heel prick, but there is no one tracking whether this actually occurs, and many parents say they received the information only after the test was performed, if at all.
In a larger poll of California parents, three-quarters similarly were unaware that the state stored leftover blood spots indefinitely, and two-thirds weren’t even sure if they received the newborn screening information. California has been storing blood spots since 1983 and has collected more than 9.5 million samples since 2000, according to CBS.
According to state law, parents don’t need to opt-in to having their baby’s blood spot stored because blood specimens collected in a hospital or medical facility are not your property but become that of the state.3 According to the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS):
“After the newborn screening tests are done, a small amount of dried blood remains on the filter paper card. Many labs keep and store these ‘residual samples’ because of their continued value to the family, laboratories’ quality control and assurance monitoring, and public health.
Each state’s policies around residual blood spot storage and use are different — some store the blood samples only for a few weeks and then destroy them, while others store the spots indefinitely.”
What Are the Blood Samples Used For?
The simplest explanation is that dried blood spots can be used if retesting is required or if the parents need further testing of the baby, but there are far more uses than this. California’s newborn screening program uses residual blood spots for quality control, such as ensuring tests are accurate, as well as to develop new tests to add to the panel. They’re also used for additional research:5
“California law requires the NBS [Newborn Screening Branch] program to use or provide newborn screening specimens for department-approved studies of diseases in women and children, such as research related to identifying and preventing disease. This could be to study birth defects, chronic disease, exposure to toxins or infections.”
However, it’s not only government researchers who have access to the samples. According to CBS, California’s biobank has sold 16,000 blood spots since 2013, totaling about $700,000. Private researchers can obtain the blood spots for $20 to $40 each, and though they must meet certain criteria for their request to be granted, it’s possible that the samples could fall into the wrong hands.
When asked whether it was possible for blood spots to be requested for a certain purpose but used for another, Fred Lorey, the former director of the California Genetic Disease Screening Program, told CBS, “I want to say no … But I’m not ready to say no because I know how humans can be sometimes.”6
Law Enforcement May Also Access the Blood Samples
Aside from researchers, blood spots have been used by coroners to identify bodies as well as by parents looking for paternity testing. Law enforcement can also gain access to blood spots if they have a court order, and in this case the blood spots are identified.
“[Consumer Watchdog’s Jamie] Court points to the recent case of the Golden State Killer. Investigators used public ancestry sites to identify a murder suspect using decades-old unidentified DNA from a crime scene,” CBS reported.
While California states that their screening program does not store information about babies’ DNA or store a “DNA profile” or DNA database, there’s debate over whether blood spots can truly stay anonymous. In California, the blood spots are given only a number and are stored in a separate building from the identifying information, which is removed from the server and microfiched after a few years.
Yet, according to Court, “There is no such thing as de-identified DNA … The very nature of DNA is that it identifies you and your genetic code specifically.” The Citizens’ Council for Health Freedom (CCHF) even went so far as to question whether newborn genetic screening could be the new eugenics, noting, “the eugenic programs of the 20th century may now have transformed themselves into 21st century State and Federal ‘public health genetics’ programs.”
They suggest that informed written parent consent is needed to protect citizens, including newborns, and recommend the following protective strategies:
Allow parents to choose the conditions for which their child is tested
•Destruct current state newborn DNA repositories
•Require informed written consent before newborn blood is taken for:
◦Newborn genetic screening
◦Government storage of test results and newborn DNA
◦Research using newborn DNA and newborn genetic test results
“Finally,” CCHF states, “State legislatures should privatize newborn genetic screening programs to protect citizens from State genetic registries, State ownership of citizen DNA, government research projects, and intrusive government interference in private family and medical decisions.”
Families Sue Government for Using Stored Blood Spots Without Permission
If you’re thinking that storing babies’ blood spots without parents’ consent sounds like an overreach of government or legal authority, you’re not the only one. In 2008, five families sued the Texas Department of State Health Services (DSHS) and Texas A&M University for just that. The state had changed its policy regarding newborn screening samples in 2002 from destroying them to giving them to researchers.
The suit alleged that this violated the parents’ rights under the Fourth Amendment, which prohibits unreasonable searches and seizures. The case was settled and DSHS was required to publically list where the blood spots had been used for research.
In addition to giving them to pharmaceutical companies, the samples were provided to the U.S. Armed Forces Institute of Pathology, prompting another lawsuit that DSHS acted with deception in distributing the samples.
Although the case was ultimately dismissed, Texas destroyed millions of stored blood spots and now requires parents to opt-in to the storage program while disclosing whether they’re planning to distribute the sample and to whom. Newsweek reported that while most people are supportive of allowing states to keep blood spots and store them, provided they give permission and receive explanations, it deserves a second thought:
“Currently, there are private commercial data banks, including those run by health care companies; biobanks under the auspices of the NIH, academic and private research institutions; and the FBI’s Combined DNA Index System, routinely used for law enforcement purposes.
[Jeremy Gruber, president of the Council for Responsible Genetics] says as genetic biobanks ‘become more widespread and the uses for DNA become more common … we’re going to start to see more and more bleed-over of these databases.'”
CCHF also highlighted a case in Michigan in which parents sued the state for storing and using their child’s blood without their consent. A judge dismissed the case, claiming the actions did not cause “harm,” but CCHF disagreed, pointing out the following instances of harm that result from the storage of newborn DNA:
“The government essentially owns the DNA of every newborn through the newborn screening program. With this court case, the government has now claimed ownership and the judge has agreed.
Legislators can come up with new things to do with Baby DNA, such as genetic sequencing and law enforcement.
Not only has privacy been dismissed, but the ability to tell the government it cannot take DNA, blood or genetic property has also been dismissed.
Patients don’t realize the harm if they are unaware DNA has been stored and could be used against them or for activities to which they are opposed.
Through DNA storage and research, another party can gain knowledge of the elements and biomarkers in the child’s DNA and, therefore, have information on the subject, which the subject does not know.
Once the storage is discovered, parents may experience fear of what the government and researchers have already done, and what they might do in the future. This too is harm.”
Can You Protect Your Baby’s Privacy?
If you like the idea of having your newborn screened for genetic diseases but don’t want your child’s blood spot stored, you may be able to opt out. First, contact your state health department and find out what the storage policies are for blood spots taken for newborn screening.
CCHF maintains data on how long state governments keep the samples as well as opt-out forms for Michigan, Minnesota, Missouri, New York, South Carolina, Texas and Washington.14 California also allows parents to request that their baby’s blood spots be destroyed, via this form.
While it’s clear that large databases of newborn blood samples provide unprecedented research opportunities, there’s also the potential for such samples to be used in unforeseen ways that threaten privacy. At the very least, parents have the right to informed consent not only about genetic testing for their child but also how their related blood samples are used in the future.