By Samuel W. Anderson

If you were born in the United States in the past 40 years or so, getting your heel pricked by a nurse was likely one of your earliest experiences. The nurse collected several drops of your blood, probably on a paper card, and sent it to be screened for diseases. Nearly every baby born in the U.S. (and many other countries) gets the same pinprick. Newborn screening tests are mandated in most of the country-and the benefits are undeniable. The Centers for Disease Control estimate that each year screening programs catch around 3,000 severe disorders in infants, with many of these diagnoses allowing the disorder to be controlled through early treatment.

If you were born more recently, depending on the state (around 1991 in Massachusetts), there is also a significant possibility that some of your DNA, in the form of dried blood on that same paper card, is sitting in a storage facility to this day. Perhaps some of it has been used in research, or to validate the state laboratory's screening accuracy.

Yet even under the best of intentions, the notion of a government entity collecting and storing children's blood samples is sensitive enough to stir controversy- particularly if parents don't find out about their state's newborn blood spot storage program until after their own child's sample has been added to it. In the past few years, parents in both Texas and Minnesota took their state health department to court on the grounds that the agency violated their child's privacy by failing to acquire consent from the parents before storing samples and making them available to researchers. The Minnesota lawsuit (Bearder v. Minnesota) was dismissed, but in the Texas case (Beleno v. Tex. Dept. of State Health Servs.) the health department agreed to new rules for consent and transparency.

The screening itself is less contentious, though not without some controversy. The idea of the procedure being required by law may not sit well with some, but the practice has been in place for decades. Even when given the opportunity, very few parents turn down the screening. There's good reason for that, says Robert Green, Associate Director of the Harvard-Partners Center for Personalized Genetic Medicine and a geneticist at Brigham and Women's Hospital.

"Newborn screening has undoubtedly saved thousands, if not tens of thousands of lives by identifying treatable metabolic disorders early," Green says. "PKU-the disease that started newborn screening-is the most dramatic example. If you don't start treatment right away with special diet, the child suffers irreversible neurological damage; if you do treat from the beginning with a special diet, the child grows up without these problems." The complications begin to arise after the child's panel of tests has been completed. Only a portion of the dried blood on the newborn blood spot card is used up in the standard screening. Generally, the rest of the sample will be stored for a while and used only to confirm a diagnosis or for quality assurance testing. If a lab is transitioning to a new machine, for example, it can compare the new machine's reading of the stored samples to their known results.

In some states-and in many parents' minds-the labs are presumed (or required) to destroy the samples once they are done with them. This is not always the case, however. Newborn blood spot samples are coveted by scientists studying the causes of childhood disorders and a range of other epidemiological and population genetics questions. In some cases, such as studies on diseases that are fatal for infants, these blood spots may be essentially the only source of samples available to researchers looking for a cure. So, rather than throwing away a perfectly good sample, states are often permitted to catalogue the blood spots, assign a code in place of the child's identity, and send the cards to a storage facility. The samples can pile up quickly; Texas' biobank grew to over 5 million newborn blood spot samples by 2010.

These biobanks are created with infants' health in mind, but many also allow researchers to request samples, and some can even sell samples to private companies. For example, a medical researcher or a pharmaceutical company might ask for samples marked as female, Asian, and positive for PKU. The biobank would send blood cards to the researcher or company, including general medical and demographic information, but no personal identifiers- save for the code assigned to the sample. Labs use de-identification to prevent recipients of samples from accessing personal information about the original donor while retaining that possibility for the state, which keeps the list linking infants' names with their sample's code number. In other types of research biobanks, samples might be further de-identified, with the lab attempting to completely divorce the information. However, proponents point out, preserving that link makes it possible to use the sample in a missing person case or, perhaps, to retroactively solve the mystery of a child's death through a "metabolic autopsy."

The privacy concerns may not be strictly theoretical. Some high-profile DNA databanks have run into problems recently. A laptop was stolen containing personal information of participants in the world's largest stem cell bank, the Cord Blood Registry; New Zealand's national DNA database investigated a staff member's inappropriate disclosure of information from the database; and a thief made off with an NIH laptop holding the personal and medical information of 2,500 research participants. NIH also decided in 2009 to stop making subjects' genomic data publicly available online, after researchers at Arizona's Translational Genomics Research Institute demonstrated how to identify individual donors within large collections of DNA profiles. A few years earlier, NIH Alzheimer's researcher Trey Sunderland was revealed to have secretly supplied the spinal fluid samples and clinical data of over 500 research participants to Pfizer in return for hundreds of thousands of dollars. (See case-in-point in this issue)

Many parents-perhaps most- would gladly agree to have their child's de-identified sample included in research that could save lives. Not all states are required to inform parents that their child's sample may be kept and used for research, and parents are often asked to sign the consent form amid the flurry of activity shortly after the child is born. As a result, Green says, "People don't really realize that their kids' blood spots are being stored and are potentially searchable."

Just how long are these samples stored? In the absence of a federal standard, each state handles newborn blood spot storage differently. Permitted retention time ranges from less than a month to "indefinitely." In 2009, New Hampshire shortened the retention time from "indefinitely" to six months, while Maine removed its five year limit in favor of allowing indefinite storage of newborn blood spots. Since 2008, five states have changed their rules to decrease retention time and another seven have increased it.

States differ just as widely in actual storage practices. Iowa stores samples for one year at -80 degrees Celsius, then four years at room temperature; Utah keeps the samples at room temperature for a week before cooling them to -20 degrees Celsius. Mississippi keeps the blood spots in Ziploc bags in a freezer. Louisiana's samples spend 30 days refrigerated in "gas permeable bags." Six states do not report having any written policy for specimen storage and disposal.

At least 20 states have made significant changes to their newborn blood spot storage policies within the past three years, but even if you live in one of these states, chances are you haven't heard anything about it. For that matter, chances are you haven't heard about your state's blood spot storage program at all.

This may often be by design on the part of state labs. Researchers and administrators working with these samples know very well how alarming newborn blood spot biobanking can sound to the layperson, particularly when inserted into the 24-hour media cycle-as by a February 2010 CNN story on the Minnesota case, titled "The Government Has Your Baby's DNA."

One could see, then, why clinicians, researchers and state labs would prefer these projects to keep a low profile. "Those involved with newborn screening are concerned that additional publicity may cause parents to refuse to participate in newborn screening, which would then put children at risk. So there may have been a tendency to moderate publicity on this matter," Green says. "But at this point, it's probably too late for that."

The Texas Department of State Health Services tried that approach, and it came back to haunt them. Internal memos indicate that when the agency was preparing to start making their store of newborn blood spots available to researchers in 2003, officials acknowledged that parents "never consented for blood spots to be used for research," but decided to sidestep the issue. When the agency contracted with Texas A&M to warehouse the rapidly growing collection, DSHS specifically asked the university not to publicize the partnership. "This makes me nervous," one official wrote. "A press release would most likely only generate negative publicity." Word got out eventually, though, and the investigative pieces published in the Texas Tribune certainly did generate negative publicity. With the help of the Texas Civil Rights Project, a group of parents took the state to court. DSHS settled quickly, agreeing to destroy over 5 million newborn blood spot samples it had stored and made available to outside parties without parental consent.

That outcome didn't sit well with many researchers, Green among them. "That, to me, was a tragedy. There is tremendous value for the laboratory and society from having a population-based record of all these samples. At the very least, laboratories need to be able to quality control the tests they're doing."

Green has plenty of reservations about the way some research biobanks handle their business; but when it comes to newborn bloodspot screening and storage, he sees many of the privacy concerns as missing the point, focusing on theoretical problems without giving enough weight to the concrete benefits. If you're caught up on the privacy concerns, "Come to metabolic clinic and see these badly damaged children and what the families have to deal with" he says. "The newborn screening programs in this country are one of the great successes of modern public health."

Can we assume newborn blood spot banks are insulated from privacy issues? Many parents-perhaps most parents- know little about where their child's sample will end up; what happens when they learn of it by way of a scandal? Ask the health department in Texas. In the words of Sharon Terry, President of Genetic Alliance, if newborn blood spot collection and research is "done well and done right, there will be an enormous benefit overall to the system." In Texas, there's a good chance they'll tell you that doing it well-and doing it right-starts with informed parental consent.

Samuel W. Anderson is Editor of GeneWatch.

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