Tag Archives: newborn screening

Bill to Protect the Genetic Profiles of Californians Clears Assembly Floor – AB 170

A closely watched bill by Assemblyman Mike Gatto (D-Glendale) to strengthen notice requirements for the storage of newborn blood samples passed the California State Assembly by a vote of 55-9. The legislation, AB 170, will ensure parents are fully informed of their rights when it comes to the retention, storage and eventual medical research conducted on their children’s dried blood spot samples. It would further require the destruction of stored samples upon request of a child reaching adulthood.

Each year, thousands of newborns are screened at birth for genetic and metabolic disorders, saving countless lives as a result. AB 170 will do nothing to affect this important public health policy. Rather, the measure addresses the storage of samples after these lifesaving tests take place. It will require parents to be notified that their child’s blood and DNA will be kept for purposes of experimentation and require the state to obtain a signature from parents acknowledging that they have received information about the storage of their child’s blood sample and subsequent use in research.

“Newborn blood screening is an incredible tool that saves untold numbers of lives every year. Last year I co-authored AB 1559, a measure that expanded such screening for diseases that affect the brain and nervous system,” said Gatto. “But during an era of omnipresent intrusion in our lives by the government, policymakers must take steps to safeguard our personal information, especially medical records, which are particularly personal.”

California is just one of four states where newborn blood samples become the property of the state and also by far has the largest Biobank in the country with over 16 million samples being stored at its facility. The Department of Public Health then loans these samples to researchers for a fee. Such practices have raised concerns that highly personal genetic information contained in a genetic sample, such as predispositions for conditions like cancer or alcoholism, could become public and used for nefarious purposes. AB 170 will allow parents to make informed decisions about allowing their newborn’s blood sample to be retained and leased to researchers.

“Whenever any data is stored and shared, it can very easily fall into the wrong hands. Recent high-profile data breaches involving credit and medical records have heightened concerns about what personal information has fallen into the hands of criminals.” said Gatto. “Now imagine a similar data beach resulting in your most personal data of all—your genetic make-up—falling into the wrong hands. AB 170 is a proactive step against such a breach.”

The San Diego Union-Tribune and Orange County Register have editorialized in favor of AB 170 stating it strikes the right balance between a person’s health and privacy rights.

The measure will next be considered by the California State Senate.

Christopher Simmons, Pr Newswire

Newborn screening collides with privacy fears

The wrinkled heel of nearly every baby in the United States is pricked at birth, and a few drops of blood are dabbed on filter paper and shipped off for analysis. Started in the 1960s, this newborn screening program tests for more than 30 rare and serious diseases that are treatable if caught early in life. Now, many public health experts who help run or advise the program are worried what the future holds. A new law shaped by a coalition of privacy advocates and conservative politicians requires consent for federally funded research on newborn blood spots, which include DNA but no names. Seeking consent sounds innocuous, even welcome. But experts are concerned that the law, which took effect in March, could hamstring not just fundamental research but also the kind of studies that routinely improve screening. Efforts to improve newborn testing often require studies on hundreds of thousands of stored blood samples; seeking consent for each one would be prohibitive and impractical. When California researchers sought informed consent to test a cuttingedge screening technology on blood spots from 400,000 newborns, for example, overworked hospital staff did not contact nearly half of eligible families, hampering the study. “Do you want genetic privacy at the expense of everything else?” asks David Orren, chief legal counsel of the Minnesota Department of Health in St. Paul.

When it began lumbering through Congress, the Newborn Screening Saves Lives Reauthorization Act of 2014 was unremarkable; it simply updated an expiring 2007 law that provided federal support for state-run newborn screening programs. In early 2014, the bill passed in the Senate—unanimously, and “in about 30 seconds,” says Cynthia Pellegrini of the March of Dimes in Washington, D.C., who advocated for the bill. The controversy began a few days before the House of Representatives voted on the bill last June, when a nurse named Twila Brase, who runs the Citizens’ Council for Health Freedom, a nonprofit in St. Paul that presses for medical privacy, reached out to the office of Michele Bachmann, a tea party icon whose district included the northern suburbs of Minneapolis-St. Paul until she retired from Congress earlier this year. Brase, who also opposes the federal mandate for electronic health records and the Affordable Care Act, had been fighting storage and research on newborn blood spots for years. Brase’s contact had its desired effect: When the bill reached the House floor, Bachmann delivered an emotional speech. “This legislation presumes that every parent of every newborn in the United States of America pre-agrees that the government can have their baby’s blood sample, which contains their DNA code,” she said. “Americans should not see the death of privacy, especially of the most sensitive private information that every American can have.”

Bachmann’s speech came too late to affect the House vote. The bill passed. But because legislators had added some minor tweaks to the language before voting, the bill had to return to the Senate, so that the two chambers were passing identical text. That gave time for Bachmann’s qualms to catch the attention of members of the conservative Senate Steering Committee, including Rand Paul (R–KY) and Patrick Toomey (R–PA). They sought input from her, as well as from officials from the March of Dimes, the National Institutes of Health (NIH), and other research and advocacy groups. After much discussion, the senators settled on the clause mandating informed consent when newborn blood spots were used in federally funded research. It passed both chambers and was signed into law by President Barack Obama a week before Christmas. At the crux of scientists’ and public health advocates’ concerns is what fits under the umbrella of “research,” which federal regulations define as investigations that “develop or contribute to generalizable knowledge.” Does testing a new screening technology qualify as research? What about studies of a test for a disease not currently on a screening panel, to determine whether it should be added? “There are public health functions that are mixed up with” what might be considered “pure” research, says Logan Spector, an epidemiologist at the University of Minnesota, Twin Cities. And some research that seems unrelated to newborn screening might not be: Probing leukemia’s origins, as researchers studying blood spots have done, could also represent nascent steps toward a test for leukemia risk.

Jeffrey Botkin, a pediatrician and bioethicist at the University of Utah in Salt Lake City, who is part of a federal advisory panel on newborn screening, worries about the impact of mandating informed consent. But he’s sympathetic to its appeal. “It’s good to be the subject of much more public dialogue and scrutiny,” Botkin says. Many acknowledge that screening programs could do a far better job of educating parents and doctors, ideally before a baby’s birth rather than in the distracted hours afterward. The Office for Human Research Protections is drafting guidelines on the law and plans to define what qualifies as research. In the meantime, scientists and state health departments are trying to anticipate the law’s effects. “We’ve essentially frozen” our repository, says Michael Watson, the executive director of the American College of Medical Genetics and Genomics in Bethesda, Maryland, which runs a virtual bank of dried blood spots. None of the four participating states plans to provide information from blood spots collected after March, when the law took effect. A pilot study to develop a test for detecting Duchenne muscular dystrophy “has been slowed down tremendously,” Watson says. There’s also a big question about whether the law is an early jolt of a larger seismic shift in how deidentified samples are handled. Until now, studying such samples, which carry no names or addresses and are not linked to an individual’s health records, hasn’t required informed consent. But in January, NIH began expecting grantees on genomic research to seek consent before using deidentified samples. The newborn screening law is turning that recommendation into a national requirement, at least for blood spots. (A handful of states already mandate consent.) Other samples, like tumor tissue or deidentified blood samples from adults, could be next. The Department of Health and Human Services is rewriting its “Common Rule” governing human subject research. An upcoming draft will reveal whether it wants consent for all deidentified samples. Once those regulations are finalized, perhaps within a couple of years, the newborn screening requirement for consent will be subsumed by the Common Rule. The Common Rule is Brase’s next frontier. She plans to comment on the proposed draft rules when they’re released, to urge that all deidentified samples be subject to informed consent before scientists can access them. “When researchers decide we’re theirs, that sets people up to oppose what’s happening in research,” she says.

Jennifer Couzin-Frankel, Science Magazine

Protecting our children’s DNA

Before they are more than a couple of days old, 98 percent of the roughly 4 million babies born in the U.S. each year have a small sample of blood taken and screened for a variety of inherited conditions. Caught early, many of these conditions can be successfully treated, preventing death and disability.

Newborn screening is one of the great public health success stories in this country, but what happens to the samples after the screening process is completed raises serious and troubling questions of consent and privacy.

Newborn screening is the only widespread health testing in the U.S. conducted not by an individual’s doctor, hospital, or health care provider but by individual state departments of public health. It’s these state agencies that often continue to store these biological samples long after the screening process is over. Indeed, 19 states store the biological samples of newborns for more than two years.

In the case of California and a handful of other states, these samples are indefinitely stored in state repositories and made available to researchers — for a fee. If there is one commonality among state newborn screening practices, it’s the complete lack of transparency of the entire process.

Most parents are poorly informed about screening programs; having just had a baby and still in the hospital they often don’t see any written materials and such programs are rarely explained in person.

Nevertheless, parents in California and most states are assumed to have consented to long-term storage and third-party use of their child’s biological sample unless they explicitly refuse in writing. Parents, understandably, want to be actively involved in decision-making regarding their children’s personal health information. That choice is currently being denied.

The concern of parents that states retain their children’s biological information is heightened because storage procedures and security at these state facilities are arcane and we still have few laws that truly protect the privacy of genetic information. We are at a critical time in the development of medicine: the mapping of the human genome has provided powerful new tools to understand the genetic basis of disease and genetic tests can help diagnose genetic conditions, guide treatment decisions, help predict risk of future disease, inform reproductive decision-making and assist medication selection.

Californians are enthusiastic about the promise of genetic medicine; but are understandably fearful about how this powerful information can be abused. The sheer amount of genetic data being generated today, and its commercialization, raises serious medical privacy concerns. Many individuals are legitimately concerned that their genetic information will be used against them and are unwilling to participate in medical research or be tested clinically, even when they are at risk for serious disease.

The government has not classified the collection and use of newborn screening data as research and its unclear whether the Common Rule, which requires informed consent for human subject research, would apply. This lack of clarity leaves newborn data ripe for misuse.

Consent not only allows parents to make choices about their child’s genetic privacy but is crucial to promoting greater governmental transparency. Such transparency is especially important because newborn screening and storage is often exempted from state genetic privacy laws. Researchers and administrators working with these samples know very well how alarming newborn blood spot biobanking can sound to most people, which explains why many of these clinicians, researchers and state labs would prefer newborn screening practices keep a low profile. That desire shouldn’t trump the public’s interest. Moreover, there’s just no evidence to indicate that better consent and privacy policies would affect any actual benefits from these biobanks.

Newborn screening is one of the few forms of genetic testing to which almost everyone is exposed. Yet parental and just general public knowledge of newborn screening and storage practices is extremely limited.

Assemblyman Mike Gatto, D-Glendale, has recently introduced a bill (AB 170) to address some of these concerns. It requires the state Department of Health to do a better job of informing Californians about the state’s newborn sample storage policies.

The bill also offers parents, and children when they reach adulthood, more control over the decision-making process regarding the retention and use of these samples.

California must revise its approach to long-term storage and use of newborn DNA samples, and include parents in the decision-making process. With no overall governing privacy framework to ensure individual privacy and control over one’s own information, a public debate around newborn screening protections can’t happen soon enough.

Jeremy Gruber is president and executive director of the Council for Responsible Genetics, a public policy organization, U-T San Diego

Protect Californian’ DNA privacy

The recent hackings of millions of consumers’ personal information from health insurer Anthem and hospital group Community Health Systems highlight the need to maintain the privacy of individuals’ health records. So it is welcome news that Assemblyman Mike Gatto, D-Glendale, has introduced a bill to protect the privacy of Californians’ blood and DNA samples taken at birth.

All states collect blood samples from newborns to test for a number of health disorders. But California is one of seven states that retain samples – without parental consent – for later research and one of four that charge fees to loan the samples to researchers. Parents may opt out of having their child’s dried blood-spot sample stored, but they must do so in writing, and many are unaware of the option – or even that the state keeps their children’s DNA in the first place.

Assembly Bill 170 would strengthen these notice requirements and require the state to honor the request of a parent or guardian to destroy their child’s blood sample. Adults aged 18 or older could also demand that their own sample be destroyed.

“Whenever data is stored, data can fall into the wrong hands. Imagine the discrimination a person might face if their HIV status or genetic predisposition to a mental disorder were revealed to the public,” Mr. Gatto said in a statement. “Parents should have the right to protect their children and people should have the right to control how their personal medical records are used once they reach adulthood.”

Screening for diseases at birth should not give the state free rein to claim that someone’s DNA is property of the government indefinitely, much less profit from it. People are free to volunteer use of their genetic material, whether to the government or private companies, but AB170 is a commonsense step toward protecting the privacy of those with concerns who feel otherwise.

Orange County Register Editorial

CRG in the News-Millions of DNA samples stored in warehouse worry privacy advocates

Privacy advocates are calling for more safeguards related to a state collection of DNA samples from 16 million Californians in a nondescript government warehouse in the Bay Area.

The biobank holds blood taken with the prick of a heel from almost every baby born in California for the last three decades. It is used to screen for 80 health disorders, such as cystic fibrosis and sickle cell anemia.

Unlike most states, California keeps the frozen samples indefinitely and shares them with genetic researchers, for a fee.

State officials say the samples are secure and are used to save lives. But the privacy advocates and an influential state lawmaker, concerned about the potential misuse of DNA information, say parents and donors should have a clear choice about whether the state can keep theirs.

“Throughout the process, from the point of screening to the point of storage to the point of third-party use, public understanding, knowledge and consent is almost completely” absent, said Jeremy Gruber, president of the nonprofit Council for Responsible Genetics.

The blood samples are stored on special paper cards without names — just numbers that can be used to find identifying information stored separately, according to officials. Names are not provided to researchers.

But Assemblyman Mike Gatto (D-Glendale), chairman of a new committee created to address privacy issues in a world where technology is seen as outpacing the law, says that “whenever data is stored, data can fall into the wrong hands.”

“Imagine the discrimination a person might face if their HIV status or genetic predisposition to a mental disorder were revealed to the public,” he said.

The lawmaker wants the state to get written consent from parents before storing children’s blood samples indefinitely and allowing their use in research after the initial screening. Parents can already opt out if they do so in writing, but Gatto said many don’t realize it.

He wants to require that the state get them to opt in, to make sure parents consider the issue. Gatto said he plans to amend such a proposal into a bill he has introduced, AB 170, that would allow the blood donors, when they turn 18, to have their samples destroyed.

He said he may also include stiff financial penalties against researchers if DNA information in their possession is breached or leaked.

One researcher who has used the blood samples to make a breakthrough in public health said requiring parental consent would be “very damaging” to work like hers.

“The parents who don’t suspect anything is wrong with their kids are going to say no, because they are not going to understand” how research might help their children or others later, said Jennifer M. Puck, a professor of immunology in the Department of Pediatrics at UC San Francisco.

Puck developed a test for severe combined immunodeficiency, or “bubble boy” disease, using blood samples from 20 newborns who later developed the malady. That test has been used since 2010 to identify dozens of infants who could ultimately lose their immune systems without treatment, Puck said.

California’s biobank “has been exceedingly useful in my clinical work and my research.”

All 50 states collect and test blood samples from newborns. California is one of 20 that keep blood samples after screening. It has samples dating to 1982 and adds to the collection with every birth.

California is one of seven states that release samples for research without parental consent and one of four that charge a fee for their release, according to a survey published recently in the medical journal Pediatrics.

The state Department of Public Health collected $71,000 in processing fees and approved six research requests in the current fiscal year, according to Scott Sandow, a spokesman for the agency.

A 16-page brochure given to all expectant parents when they arrive at the hospital says they may decline to have their child’s samples stored after the initial screening by sending a written request to the state, Sandow said.

Gatto, who with his wife has been through the childbirth experience twice in the last four years, says he does not remember anything said about blood samples kept indefinitely and used in research.

“Obviously, when that blood is taken, it’s a very emotional time, and it’s a very fast-moving time,” Gatto said. At the births of both of his daughters, he and his wife were absorbed in “arguing about what we were going to name them.”

Gatto said he has spoken to hundreds of parents who were not aware that their children’s DNA was kept by the state.

“You assume they will test your child for the disease and then burn the [sample] as medical waste,” Gatto said.

Gatto envisions a notice that parents would receive well before entering the hospital to give birth, with a box they could check to allow storage of and research with their child’s blood after screening.

Robert Nussbaum, chief of the Division of Medical Genetics at UCSF, said that there is no such thing as a guarantee of absolute security but that new restrictions are unnecessary. The state program is doing a good job of keeping the information stored in the samples confidential, he said.

The program’s benefits to healthcare, he said, “outweigh the risks” of any data compromise.

DNA privacy bill strikes right balance

In 1997’s futuristic “Gattaca,” one’s DNA determined one’s destiny. Released a dozen years after the beginning of real-life genetic testing, the movie tracked a man “conceived by love rather than in a lab,” as Variety put it. Because his lousy genes limited his career, he went to “a DNA broker who sells false identities to the genetically inferior.”

As with all dystopian stories, “Gattaca” uses the future to explore trends in the present. Since the movie’s release, the genetic-data conundrum has become more pronounced. Testing offers great opportunities to cure disease and exonerate the innocent accused of crimes, but it also offers potential for government and private firms to invade privacy and misuse data.

A new bill, proposed by Assemblyman Mike Gatto, D-Glendale, attempts to create a balance by making it clear who owns the DNA samples already collected in California hospitals. “A government repository of the DNA of all children born? It sounds like something out of 20th century dystopian fiction,” Gatto’s office wrote, in a statement last week announcing the proposal.

As it further explains, newborns are tested — via a blood sample taken from the heel of about a half-million babies born here each year — and the information is sent to laboratories to screen for diseases and genetic disorders. Most parents don’t even know about the test. All states do this, but California is one of a handful where the state owns and retains the information, and even sells it to private research companies.

That’s the problem, according to Gatto. In an interview last week, Gatto described potentially troubling scenarios. When hackers stole people’s credit-card data from a chain store, that created problems for consumers — but imagine what can happen if hackers get into a database of genetic information? Right now, there are no real protections.

And then there’s the potential for official misuses of the data. Technology is developing rapidly. It’s not hard to envision a “Gattaca”-like scenario in which, as Gatto explains, eventually it’s possible to learn whether a person has a “violent gene” or is predisposed toward alcoholism. “It gets kind of disturbing,” he said. “I don’t mean to sound alarms, but it gets alarming.”

Supporters of the current system say the information used for research is not attached to any person’s name. But that may be a weak protection. “The state screening programs … de-identify newborn baby blood spots before loaning them out to research, but so far truly ‘anonymizing’ DNA has proved impossible,” according to a July Newsweek report that inspired the Gatto bill. Massachusetts researchers found the identities of anonymous DNA donors “by cross-referencing their data with publicly available information.”

AB 170 is a work in progress, but the parameters are simple: “The bill would authorize a parent or guardian of a minor child and the newborn child, once he or she is legally an adult, to request that the department destroy, not use for research purposes, or both, the blood sample, and the department would be required to do so.” It, in essence, gives the ownership right to its rightful owners. And it requires the state to provide various disclosures.

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Fortunately, this bill doesn’t take the Legislature’s usual “if in doubt, ban it” approach. The Newsweek article begins with a touching interview with a 36-year-old filmmaker who was identified as an infant with a rare genetic disorder. Had he not been tested and then treated, he would have faced a horrifically debilitating disease. Instead, he’s living a normal life. Gatto makes it clear that such testing “does a lot of good.”

But the program might need some constraints — and it certainly is worth a debate. Gatto is chairman of the new Assembly Committee on Privacy and Consumer Protection, which promises to be one of the most significant committees in the Assembly given myriad and growing threats to our privacy and civil liberties.

Maybe the committee will help rebuild a long-needed and bipartisan “civil liberties coalition.” After all, it’s in everyone’s interest to assure movies such as “Gattaca” remain nothing more than entertaining fiction.

Steven Greenhut-UT San Diego

U.S. House unanimously approves newborn screening bill with CRG backed privacy and consent provisions

National newborn screening legislation is headed to President Barack Obama’s desk for signature after unanimously passing the U.S. House of Representatives on Wednesday.

The legislation includes new timeliness and tracking measures aimed at eliminating delays in newborn screening so babies with deadly yet treatable genetic disorders are diagnosed quickly. The changes were made in response to a Milwaukee Journal Sentinel investigation last year that found thousands of hospitals were late sending babies’ blood samples to state labs.

Patrick O’Connor, whose son has been seriously and permanently affected by delayed newborn screening, said the legislation and changes to it are “incredibly important” and long overdue.

“People who are unfamiliar with newborn screening can now have some level of confidence that there’s a system of checks and balances in place,” he said.

The Newborn Screening Saves Lives Reauthorization Act, which advocates worried wouldn’t pass before the end of the year, reauthorizes a 2008 measure that funds $19.9 million for programs supporting the country’s state-run newborn screening systems. The bill has been pending in Congress since January but stalled when Republican senators said they had privacy concerns about genetic research funded by the legislation.

On Monday, the U.S. Senate passed the bill after requiring parental consent before federally funded genetic research can be done on a blood sample. The bill returned to the House for similar changes and now goes to Obama, who is expected to sign it in the next 10 days.

Nearly every baby in the country is tested for genetic disorders shortly after birth. Blood is collected on a card that is sent to state public health labs for testing. The Journal Sentinel found that infants have died andsuffered permanent disabilities because of screening delays by hospitals and state labs.

Patrick and Katrina O’Connor’s son, Peter, was born in Connecticut in 2007. His blood sample never made it to the state health lab, and so for 99 days, doctors didn’t know why he was so sick. Peter has a genetic disorder that is easily treated if caught early. Connecticut required hospitals to develop a system to track results, but the hospital where Peter was born didn’t do so. Left untreated, Peter suffered neurological damage in his first three months of life and, at 7 years old, is significantly behind his peers.

In its investigation, the Journal Sentinel also found that federal regulators and health officials have discussed the need to standardize newborn screening nationwide, but little action has been taken in the past 15 years. In response to those findings, other amendments to the legislation include:

■ Directing the U.S. Centers for Disease Control and Prevention to evaluate lab quality and surveillance activities so state labs can collect and share standardized data

■ Requiring the Government Accountability Office to prepare a report within two years that examines the timeliness of newborn screening in the U.S., while also summarizing guidelines and recommendations.

■ Directing a committee of experts for the U.S. Health And Human Services secretary to give recommendations on improving timeliness for newborn screening.

The legislation does not require public reporting of hospitals’ and states’ performance, leaving that up to each state.

In the past year, dozens of states, including Wisconsin, have made significant changes to address delays, such as identifying problem hospitals and providing them with regular performance reports, adding courier services from hospitals and keeping labs open on weekends. Several have decided to publicly post hospitals’ performance online.

Ellen Gabler, Journal Sentinerl

Privacy and consent provisions added to Senate passed newborn screening bill

The U.S. Senate has passed H.R. 1281, the Newborn Screening Saves Lives Reauthorization Act, after adopting significant privacy and consent protections championed by the Council for Responsible Genetics.

Every US state conducts a newborn screening test on every baby born within its borders. State law generally requires that a nurse takes a few drops of blood from the heel of each newborn, and submits it to a state laboratory. There, researchers test blood to look for 50 or so medical conditions that could be dangerous–generally metabolic, genetic or endocrine conditions. Newborn screening has proven a very effective and successful health program.

Unfortunately, once the initial testing is completed, the samples are not destroyed. Rather than discarding the screening tests, many state departments of health store the bloodspots for a period of time, even indefinitely, using them for quality control and sometimes research. Usually parents have no idea this is occurring.

The Newborn Screening Saves Lives Reauthorization Act, which provides grants to state entities administering newborn screening programs, is intended to unify and nationalize the data collection resulting from state screening programs by standardizing data collection and reporting. Unfortunately it did not address the serious privacy and consent issues with the long term storage and use of such data.

CRG has been working closely with the US Senate to include appropriate privacy and consent protections into this important legislation. Our report, Newborn Screening in America, and other materials from the CRG sponsored Genetic Privacy Network have been widely distributed on Capitol Hill and have become crucial resources on this issue.

We are pleased to announce that late last night, the Senate passed the bill after adding language designating any federally-funded research involving newborn bloodspots collected after March 2015 to be considered human subjects research for the purposes of the Common Rule. This means that such research will require informed consent from parents before these bloodspots can be used for research; it does not, however, apply to the screening of individual newborns for the required disorders. This provision does not require such consent to be obtained before the initial bloodspot is collected and tested. The bill now returns to the House of Representatives which is expected to quickly affirm changes made by the Senate.

“Passage of the Newborn Screening Saves Lives Reauthorization Act with the addition of consent and privacy protections is a victory for both genetic information privacy and child health,” stated CRG President Jeremy Gruber. “The National Institutes of Health is currently working on updating the Common Rule for human subject research. We fully expect that Congress’ interest in establishing privacy and consent protections for newborn screening has now been communicated to the NIH, and will be carefully included as part of the Common Rule as a final draft develops.”

Privacy protections for genetic information are possible! CRG would like to thank the many members of the US Senate that made this victory possible.

CRG Presses US Senate for Privacy and Consent Protections in Newborn Screening

H.R. 1281 is the Newborn Screening Saves Lives Reauthorization Act of 2014. It seeks to reauthorize and amend a number of state grant programs and federal requirements for newborn screening. The bill passed the US House by a voice vote on June 24, 2014.

Every US state conducts  a newborn screening test on every baby born within its borders. State law generally requires that a nurse takes a few drops of blood from the heel of each newborn, and submits it to a state laboratory. There, researchers test blood to look for 50 or so medical conditions that could be dangerous–generally metabolic,  genetic or endocrine conditions. Newborn screening has proven a very effective and successful health program.

Unfortunately, once the initial testing is completed, the samples are not destroyed. Rather than discarding the screening tests, many state departments of health store the bloodspots for a period of time, even indefinitely, using them for quality control and sometimes research. Usually parents have no idea this is occurring.

In 2007, President Bush signed the Newborn Screening Saves Lives Act, which provides grants to state entities administering newborn screening programs. The intent of the law is to unify and nationalize the data collection resulting from state screening programs by standardizing data collection and reporting.

Notably, this law does not specify the protocol for sharing newborn screening data between research projects, and does not address issues that might arise if the newborn’s information is linked or linkable to the newborn screening sample. It furthermore does nothing to address parental consent with regard to data storage and sharing.

Newborn screening is one of the few types of genetic testing to which every American is exposed, yet few Americans are aware of the serious privacy and lack of consent issues with the storage and use of samples. CRG is working hard with Members of the US Senate to amend the legislation so that the important benefits of newborn screening are supported while upholding principles of privacy and parental consent.

A copy of the letter to the Senate is below.


Privacy Issues Stall Newborn Screening Bill

A bill that would support newborn screening nationwide has stalled in Congress because some Republican senators have privacy concerns about genetic research funded by the legislation.

The senators won’t comment individually, but the Senate Steering Committee has indicated it wants a provision added to the bill to require parental consent before genetic research and genomic sequencing could be done on a child’s newborn screening sample.

Nearly every baby in the country is tested for genetic disorders shortly after birth. Blood is collected on a card that is sent to state public health labs for testing, in order to identify conditions that are often easily treatable. The cards are often later used anonymously for research. The senators holding up the bill believe that a child could be identified from such research.

Newborn-screening advocates have said they are willing to discuss ways to more clearly define and limit research but are worried that the focus on the research — just one part of the bill — will derail it from becoming law before Congress ends its lame-duck session this month.

“We certainly hope we don’t have to start this process over from scratch in 2015 — this issue is far too important for infants and families,” said Cynthia Pellegrini, senior vice president at the March of Dimes, one of several advocacy groups supporting the Newborn Screening Saves Lives Reauthorization Act.

The bill, which involves $19.9 million in spending, would reauthorize a 2008 measure that funds many programs supporting the country’s state-run newborn screening systems. Newborn screening will still continue in all states even if the bill does not pass — as each state operates its own program — but amendments to the bill would not be instituted.

This year both the House and Senate added timeliness measures to the bill after a Milwaukee Journal Sentinel investigation in November 2013 found that thousands of hospitals were sending babies’ blood samples late to state labs.

Those changes will require that experts systematically track and improve the timeliness of newborn screening programs nationwide. The Journal Sentinel found that newborn screening varies widely in quality depending on the state or hospital where a child is born. Other amendments made to the bill include:

∎ The U.S. Centers for Disease Control and Prevention would be directed to evaluate laboratory quality and surveillance activities, with a focus on timeliness, so state labs can collect and share standardized data.

∎ The Government Accountability Office, the investigative arm of Congress, would be required to prepare a report within two years that examines the timeliness of newborn screening throughout the country, while also summarizing guidelines, recommendations and best practices to support a timely newborn screening system.

∎ A committee of experts that advises the U.S. Health and Human Services secretary would be directed to provide recommendations on improving timeliness in newborn screening programs.

If the bill does not pass in December, funding for that committee would run out in the spring. A new sponsor in the Senate would also be needed, as U.S. Sen. Kay Hagan, D-N.C., was defeated in the November election.

Ellen Gabler, Milwaukee Journal Sentinel