SACRAMENTO (CBS13) — It’s a little known fact: California stores newborn blood spot (NBS) samples from every child born in the state. Parents don’t have to consent, so many don’t even know.
DNA from the samples may be used for potentially life-saving research, but in light of the Golden State Killer case and evolving DNA technology, there are new questions about what else the DNA is being used for and why the state does not ask for consent before indefinitely storing a child’s DNA.
CBS13 has learned:
Newborn blood spot DNA is being used by law enforcement in addition to researchers.
The Newborn Screening informational pamphlets no longer disclose that the state will store the leftover blood spots indefinitely, nor does it provide opt-out information.
The California Department of Public Health (CDPH) says it “does not have (and has never had) an opt-in policy for storage of NBS specimens.”
While parents must pay the state for their child’s genetic test, the law does not require the state to get consent before storing remaining blood spots or allowing private researchers to purchase them.
A 2014 federal law that temporarily classified bloodspots as human subjects was amended last year to remove the protection. While the law did not apply to private or state-funded research, it had temporarily required that federally-funded researchers get informed consent before using the bloodspots.
It was the middle of the night when the nurse came in to give Casey’s newborn a heel prick.
“I was wondering why they needed the blood sample and they weren’t exactly telling me,” the new dad explained. “I wanted to know, ‘Why are you taking my child’s blood and what are you doing with this? And especially at three o’clock in the morning?’ ”
Like every baby born in the U.S., his newborn’s blood was used to fill six spots on a special card. The blood spots are used to test babies for dozens of genetic disorders that, if treated early enough, could prevent severe disabilities. The test itself is crucial and potentially lifesaving, but it’s what happens after the test that has some concerned.
“Then I started reading and googling it and I came across your article,” Casey explained.
What Most Parents Don’t Know
He was shocked to learn from our previous reports that his daughter’s leftover blood spots would become “property of the state” and would be stored indefinitely in a state-run biobank to be used for research without his knowledge or consent.
California has been storing blood spots since 1983, collecting more than 9.5 million since 2000 alone. The state can now test newborns for more than 80 genetic disorders thanks to research using the stored blood spots.
To be clear, there is no genome database. The state does not extract or sequence the DNA, though a researcher or investigator may.
Since 2014, all research requests must first be approved by the state’s Committee for the Protection of Human Subjects (CPHS). However, bloodspots are not considered human subjects in California and therefore do not require a parent’s consent before researchers are allowed to purchase them from the state.
The state has long insisted that the blood spots are de-identified before they are given to researchers, meaning they only receive the blood and a number without any identifying information.
But Casey still has privacy concerns, noting that the state knows who each blood spot belongs to. “We just don’t know what laws are going to be passed in the future,” he said.
Casey also pointed to the Golden State Killer case, which recently proved that DNA is inherently identifiable. Investigators used public ancestry sites to identify a murder suspect using decades-old unidentified DNA from a crime scene. Since then, the same technique has been used to “re-identify” DNA in more than 150 cold cases.
Casey emailed CBS13 from the hospital asking for an update in light of the significant advances in DNA technology since that landmark case.
Newborn Blood Spots Used By Law Enforcement
“DNA absolutely can be identified,” said Cece Moore, a prominent genetic detective who uses genealogy DNA to help solve crimes. “I think the public has become more aware of that.”
Thanks to the investigative genetic genealogy techniques that were first used to find the Golden State Killer, Moore says a large percentage of the U.S. population can now be identified using unidentified DNA and public ancestry databases.
They no longer need a close relative to identify un-identified DNA. “We just need to get a handful of second, third, fourth cousins in order to be able to reverse engineer the family tree,” which Moore explained can generally be found by running the un-identified DNA through a public genetic genealogy site.
“A blood spot is actually a perfect sample to be able to use for this process” she added.
Records obtained by CBS13 reveal that blood spots are being used by law enforcement. We found at least five search warrants and four court orders for identified blood spots before the Golden State Killer case.
Since then, investigators have confirmed to CBS13 that at least one cold case was recently solved with the help of newborn blood spots.
“It’s definitely for the greater good,” Moore pointed out.
Ethical Concerns: Parents Don’t Get to Consent
While Moore relies on access to DNA, she also believes in informed consent before DNA is used for research or by law enforcement.
Moore, who has long been an expert in genetic genealogy, says she turned down requests to help law enforcement until the public genetic genealogy site they use, GEDmatch, began notifying users that law enforcement had access to their DNA.
“The vast majority of people weren’t even aware that we could use genetic genealogy for law enforcement purposes until the Golden State killer suspect was arrested,” she explained.
In the wake of the Golden State Killer announcement, and the widespread media coverage that followed, the genetic geology site GEDmatch added a disclaimer to the website notifying users that their DNA might be used by law enforcement.
Only then, did Moore feel it was ethical to use the DNA for purposes other than genealogy.
“People have the right to choose how their DNA is used and how their children’s DNA is used,” Moore said.
However, in California, they don’t.
Most Parents Don’t Know The State is Storing Blood Spots
Moore is one of many who are concerned about the way California obtains newborn DNA samples without consent. She notes that GEDmatch users choose to upload their DNA while most parents don’t even know their child’s DNA is being stored.
In fact, Moore said she initially had no idea the state had stored her own son’s DNA.
Until CBS13 Investigative Reporter Julie Watts explained that the state does not even request a signature, Moore assumed she’d forgotten signing something in the hospital that gave them permission to store the blood spots.
“I was shocked,” Moore said.
While parents must pay the state for their child’s genetic test, the law does not require the state to get consent before storing or selling remaining blood spots to researchers.
According to the state, “[The California Department of Public Health] has never had a policy for opting out of storage before blood is collected.”
“It is forever available for re-identification,” Moore stressed, “and so I think that parents have the right to weigh in on that decision.”
Parents can request that the state destroy the blood spots after they’ve been stored, but the state says it “may not be able to comply” and most parents have no idea how.
California law allows for the storage and use of “Newborn blood collected by the Genetic Disease Screening Program” for research purposes. CDPH told CBS13 that because there are no “timeframes or prohibitions for retention” they believe they have the right to store the blood spots indefinitely.
The “material” used to come in the form of a multi-page booklet. The information about opting out of blood spot storage was buried in a Q&A on pages 13-14.
“Are the stored blood spots used for anything else? Yes. California law requires the NBS 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…”
Can I request that my baby’s blood spots be destroyed? You may request your baby’s blood spots be destroyed after newborn screening has been completed. Keep in mind that if your baby’s blood spots are destroyed, they will not be available if you need them in the future. To get a form to request that your child’s blood spots be destroyed, go to: http://www.cdph.ca.gov/programs/GDSP/Pages/ParentForms.aspx “
However, half a dozen new parents previously interviewed by CBS13 unanimously felt the language was misleading. They felt the state was trying to hide the fact that the blood spots would be stored indefinitely, that they would be available to law enforcement and that they could be purchased by private researchers.
Several years later, the booklet has now been replaced by a one-page pamphlet which makes no reference at all to storage, research, law enforcement, or opting out. There is one line at the bottom of the page stating “for information about what happens to leftover bloodspots” parents can go to the state’s website.
The webpage provided contains more than 20 individual links to additional information regarding various aspects of the program. However, nowhere on the page does it indicate the child’s bloodspots will be stored and may be used for research or by law enforcement without consent.
That one-page pamphlet is just one in a stack of documents that parents like Casey get at the hospital.
“I can’t even remember if they had me sign anything,” Casey said.
Like most new parents who are overwhelmed with a new child, he hasn’t had the time to read through all the pamphlets.
How To Find The Storage/Opt-Out Information
The California Department of Public Health (CDPH) tells CBS13 that the old booklet is still available online and CDPH has produced a new informational video for parents, though it’s not clear how most parents are expected to find the links.
CDPH also states “The NBS Test Request Form (TRF) has information about storage and use of residual blood spots, and parents are provided with (that) part of the form.”
However, the request form is generally filled out by the nurse and the parents aren’t asked to sign it. A copy of the form is supposed to be included among the stack of other pamphlets and forms that parents leave the hospital with.
The Consent Debate
In 2014, a federal law temporarily classified bloodspots as human subjects, meaning some researchers would need to get informed consent to use them. However, the law only applied to federally funded research – not private research – and the protection was removed last year.
Studies find “states that retain (blood spots) may be acting outside the scope of their legal authority,” and several states have been successfully sued by parents. The state’s untimely had to destroy all samples taken without consent.
“The ACLU believes that parents have the right to know before the state stores their child’s blood and allows it to be used by researchers and others.” However, many in the research community do not.
Those opposed to informed consent say it may increase the number of people who opt out of storage and thereby reduce the number of specimens available for life- saving research.
Others oppose consent arguing that parents might be more likely to opt-out of the life-saving genetic test if given the opportunity to opt-out of storage after the test.
However, privacy advocates like Moore believe the appearance of secrecy may have that effect on its own as the public becomes more aware of the many uses for de-identified DNA.
“If we lose the trust, if we use their DNA in ways they haven’t consented to, I’m concerned that people will stop testing completely,” Moore said.
Many parents like Casey say the lack of information makes them more suspicious of the state and more likely to have their child’s blood spots destroyed – which is why some believe it’s time the state start getting consent before storing every child’s DNA.