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4 Concerns About the Use of Residual Newborn Screening Samples Important Points Highlighted by Speakers • Concerns about the use of residual newborn screening samples center on discrimination, inadequate security, loss of autonomy, unfair economic returns, the potential for abuses by law enforce- ment, and inappropriate governmental control. • Recent events have increased the visibility of newborn screen- ing programs and have demonstrated the potential for standard practices to raise concerns and generate opposition. • Concerns about privacy are especially prevalent and need to be resolved in order for research to progress. • State laws and regulations address some of these concerns but leave others unresolved and vary greatly from state to state. • Transparency and oversight are essential to counter concerns about the use of residual newborn screening samples. SEPARATING CONCERNS FROM ISSuES The concerns that people feel about newborn screening should be separated from the issues surrounding screening, said Ann Waldo, senior counsel at Genetic Alliance. The concerns need to be understood first and then they can be analyzed to identify the issues that need to be addressed. 

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0 USING RESIDUAL NEWbORN SCREENING SAMpLES The number one concern that parents feel, in Waldo’s opinion, is pro- tectiveness toward children. “Every parent understands this, particularly if you have a newborn,” she said. “If you see something that you think might harm your children, you are going to immediately feel opposition to that.” Some of the fears about potential harm to children are vague and incho- ate, but that does not mean that they are invalid. Sometimes people have a vague sense of unease for a good reason. The sense of the unknown that surrounds newborn screening and genetic testing in general can generate suspicion and distrust. “If I were a parent trying to make this decision myself, that would be one of my bigger concerns,” Waldo said. “I don’t know what I don’t know and I’m a little afraid of what I don’t know.” Furthermore, science and society have been changing dramatically in recent years and these changes can raise new issues that were not previously foreseen. A specific concern cited by parents in informal discussions is the fear of discrimination. Perhaps if genetic or biological information about a child exists in a database, they say, it will be used to discriminate against that child. The Genetic Information Nondiscrimination Act (GINA) protects against some forms of discrimination, but it has limitations and is not widely known, so it does not eliminate the fears that people have. Furthermore, even if it were possible to guarantee that a child would never be discriminated against—which is not guaranteed under GINA—sensitive information could still be used to embarrass, humiliate, or ostracize a child. Parents have raised many other concerns regarding newborn screening programs. The question of a child’s paternity can become an issue if the results of tests are made known. Or, if a first child is born with a disorder and a family makes strenuous efforts to avoid having another child with the same condition, what message does that give to the first child? “Is it in effect telling the child that he is a regrettable mistake and you are going to redouble your efforts to make sure you don’t have another one like him or her?” Waldo asked. “What does that do to a child’s self-esteem?” Genetics research has the potential to make many decisions surrounding reproduction difficult. But “the train is unstoppable,” Waldo said. “Even if all newborn screening programs disappeared, which would be a tragedy, genetics is going to be advancing, and we are going to have to face these tough questions about what to do with knowledge.” Newborn screening programs also raise difficult issues concerning autonomy, control, and choice. In the preface of the Texas lawsuit, one of the plaintiffs was repeatedly quoted as saying, “If they’d only asked me for permission, I would have said yes.” Waldo expressed some puzzlement over this statement. If parents fear harm to their children from information being stored, then why would they consent to storage? Nevertheless, the desire for choice and control can take precedence in decision making. “People want to

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 CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES be asked. Whether someone else thinks it’s reasonable or not, [consent is] a very real concern.” (Issues of consent are discussed in Chapter 5.) Some state health departments have been accused, rightly or wrongly, of being overly cavalier about the use of residual dried blood spots, accord- ing to Waldo. Even if completely unfounded, such attitudes can easily fuel antigovernment sentiment. Forensic uses of residual dried blood spots are another focus of atten- tion and concern. People sometimes ask in public meetings whether dried blood spots can be used to obtain convictions—or exonerations—of fam- ily members. The expressed interest of some government agencies in using remaining newborn screening samples for forensics has raised the profile of this issue, said Waldo. Waldo expressed reservations, as a former privacy officer at two large companies, about inadequate security. Making information secure takes considerable thought and effort. When samples are being used for research, either the state or the recipients of samples might have inadequate informa- tion security. Even if a university researcher is careful not to share informa- tion about the samples, for example, someone else at the university might hack into the researcher’s database. The use of residual newborn screening samples and information gen- erated from those samples are not subject to clear-cut standards or laws, Waldo said. Repositories of residual newborn screening samples may or may not be covered under the Health Insurance Portability and Account- ability Act (HIPAA), depending on whether the holder is within HIPAA’s scope, so HIPAA provisions that were developed to balance competing needs, such as access to data in litigation, do not always protect newborn screening samples and information. Although there are constitutional limits on the use of newborn screening samples, in general the laws governing these materials are “unclear and not prescriptive,” Waldo said. The proprietary rights surrounding residual newborn screening sam- ples also remain largely undefined. As has been discussed with the case of Henrietta Lacks, some people ask who will benefit from the research being done with their biological materials. If the public and sick children are the primary beneficiaries, people may have no concerns. But when large amounts of money and proprietary research are involved, people sometimes raise ques- tions about the disposition of intellectual property and flows of money. Related to questions concerning money are payments that states might receive from outside entities for furnishing blood spots for research or other purposes. This issue has been raised in media reports from Texas. Although the payments in Texas were very small—amounting to somewhere between $2 and $4 a blood spot, which the state considered nominal handling fees used to recover part of the taxpayers’ expenses in providing samples to others—perceptions can be damaging. “That nomi-

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 USING RESIDUAL NEWbORN SCREENING SAMpLES nal administrative fee gets presented as, ‘You sold my baby’s blood. You bartered my [baby’s] blood.’ Headline writers have been doing a great job of finding these mellifluous headlines in Texas,” Waldo said. CONCERNS AND THE POTENTIAL FOR HARM Other speakers also cited concerns raised by members of the public about newborn screening programs. Sharon Kardia said that whenever she meets with parents or other members of the public, she gets “a whole storm of questions and concerns that indicate we haven’t done the necessary education,” such as: Who owns the spots? Who is going to make money from them? Why didn’t you ask me for permission to use them? What will we get in return for their use? (Parental and public education is the topic of Chapter 6.) Kardia also noted that in Michigan a frequent concern is that the use of residual dried blood spots will undermine community-based research networks, which are very active in investigating local health con- cerns in that state. If information is centralized, Kardia asked, will these networks disband and no longer have a say in health research? Kelly Edwards, associate professor in the Department of Bioethics and Humanities at the University of Washington School of Medicine, also used a storm metaphor in describing public concerns. A “perfect storm” of stories in the media has focused public attention on this issue, Edwards said. A recent article in the New York Times was entitled, “Where’d You Go with My DNA?” (Harmon, 2010). The recent publication of a book about Henrietta Lacks (Skloot, 2010) and the return of genetic samples to the Havasupai tribe in Arizona, though both unrelated to newborn screening, have raised the public profile of screening. The family of Henrietta Lacks was proud that cells taken from their mother had led to immense contributions to science and medicine, but they were angry that no one had talked to them about what was happening and that many people were benefiting from this research while they could not afford health care. In the Havasupai case, there was a discon- nect between the expectations of the different parties, Edwards said. Mem- bers of the tribe expected the samples to be used only for diabetes research, while the researchers expected that they would be able to do other kinds of research if the samples could not be linked to individuals. Thus, these two experiences illustrate what can happen when people manage genetic samples for purposes that the donors and their families do not understand and with no communication about what is happening to those samples. Several important lessons can be drawn from these episodes, Edwards said. First, regulations currently provide the floor for what can be done, not the ceiling. Other standards may be needed to provide additional guidance. The researchers who were involved in the Henrietta Lacks and Havasupai

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 CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES cases were following current regulations, “but clearly we need to go beyond that if we are going to build and sustain public trust.” Another lesson is that “business as usual” practices can cause harm. Researchers are not bad people who have intention to harm. Yet their research and public health practices can cause harm that was unanticipated or overlooked. The way to avoid such harm, Edwards said, is to get a more diverse group of people offering input into decisions about how to manage samples and what kind of work should go forward. These decisions should not be made by a narrow group of people, because a narrow group cannot imagine what harm looks like to other people at other times. CONCERNS ABOuT PRIVACy AND SECuRITy Sharon Terry, president and CEO of Genetic Alliance, elaborated on the many concerns involving privacy and security associated with residual newborn screening samples. Privacy is being redefined in the digital age, she said, when information about people is readily accessible on social net- working sites. People are interested in sharing such information, but most are also interested in controlling it. Perspectives on privacy vary widely. Terry cited the views of James Heywood, co-founder of the organization PatientsLikeMe, who contends that people have a moral imperative to share their health information. PatientsLikeMe has created a platform for collecting and sharing outcome- based patient data in order to benefit people with life-changing diseases. From Heywood’s perspective, as members of the human family, all of us should care enough about others to share our health information and pri- vacy should be a secondary concern. On the other hand, Terry observed, many people have a protectionist view of their health information. She shared a quote by a nurse and new mother: “We were appalled when we found out. Why do they need to store my baby’s DNA indefinitely? Something on there could affect her ability to get a job later on, or get health insurance.” According to Terry, “we need to hear the spec- trum [of opinion]. We also need to figure out how to balance all the needs.” Many parents are interested in being involved in research, especially translational research designed to yield advances in health, Terry has learned from her own evaluation of studies. But these parents also express concerns about the privacy implications of participating in research. According to a survey conducted by Harris/Westin,1 63 percent of people would permit 1 The Harris Poll® March 26, 2007, “Many U.S. Adults Are Satisfied with Use of Their Per- sonal Health Information—Significant minority still withholds information from health provid- ers due to worries about security of medical data” Harris Interactive Inc. All rights reserved.

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4 USING RESIDUAL NEWbORN SCREENING SAMpLES their personal health information to be used for research only if various privacy-oriented conditions are met. The message people give, Terry said, is that “we need to have some say about what happens.” The context of information is critical, Terry added. It is important where the information is created, where it exists, and who sees it. People make calculated decisions about their privacy, as when they are posting information on a social networking site or doing online banking. People do not understand all of the risks, but they decide that the benefits are worth the risks that they do understand. An additional factor for newborn screening is that parents are making decisions for their children, raising the question of whether children should be able to revisit those decisions and make different ones when they turn 18. The Genetic Information Nondiscrimination Act protects people from employment and insurance discrimination. It does not protect them from discrimination in the areas of long-term care or life insurance. It thus offers some protections, Terry said, but not blanket protections. Privacy and security will always depend in part on trust. This factor is hard to measure, regulate, or codify, yet it is essential for public health departments and researchers to do their jobs. Trust also influences how people interact and the messages they take away from those interactions. Wild rhetoric and blanket statements may reveal how someone feels, but they also can undermine trust, Terry said. Public health departments are not running amok and betraying people’s trust. They are not blatantly violating privacy policies. Researchers do not care only about samples. The conversa- tion needs to be nuanced and people need to trust each other if they are to move toward a solution that does not abandon research. Privacy issues can make translational research difficult, but addressing them is essential. “There is dying going on right now,” Terry said. “Every one of us knows somebody who could have benefited by research having been sped up.” Yet difficult trade-offs arise. Is one dying child worth the privacy risks to many others, or even one other? Should privacy protection preferences be allowed to delay translational research for a given number of years? What are the responsibilities of individuals, nations, and all human beings? “Those are all really, really hard questions,” Terry said, “and trans- lational research runs into them all the time.” STATE LAWS AND PRACTICES As of May 2010, at least 18 states had laws or regulations that specifi- cally addressed both the storage and use of newborn screening samples: California, Indiana, Iowa, Maine, Massachusetts, Michigan, Minnesota, Mississippi, Missouri, Nebraska, New Hampshire, North Dakota, Okla- homa, South Carolina, Texas, Utah, Washington, and Wisconsin. Alissa Johnson of Johnson Policy Consulting provided an overview of state poli-

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 CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES cies and practices and described several legislative initiatives directed toward newborn screening programs. State policies and practices regarding the storage and use of residual dried blood spots vary widely. Some allow research uses if the research is conducted in accordance with established requirements. Others ban some research uses, while one—Mississippi—strictly prohibits the use of residual dried newborn screening specimens for research or purposes other than confirmation of test results. Other states probably have positions regard- ing the use of residual newborn screening samples, Johnson said, but these policies are not readily obtainable from available materials. Some states allow parents to determine how samples from their infants may be used. For example, in California and Maine, where researchers may have access to specimens for approved studies, a person can prohibit the use of samples for program evaluation or research by submitting a written request. Parents in several states, including Michigan, Minnesota, South Carolina, Texas, and Washington, can also request the destruction of residual dried blood specimens after a defined period when the samples are no longer needed for screening purposes. Most state policies that permit research use of residual dried blood samples employ an opt-out approach, with samples being released for approved research unless parents indicate otherwise, but in Nebraska and New Hampshire researchers must obtain written consent from the parents of individuals whose specimens are being requested. In some states children, once they reach the age of 18, can request the destruction or return of a specimen. Some states limit secondary use of residual dried blood specimens to research in specific study areas. A few permit research only on issues related to newborn screening. Wisconsin confines secondary use of samples to research and evaluation purposes related to congenital and metabolic disorders or laboratory procedures. Massachusetts offers participation in pilot studies of conditions that may be added to the state newborn screen- ing panel in the future. Other states permit a slightly broader range of research. Iowa, for example, allows studies related to newborn screening, studies that can affect the health of a child from whom no other specimens are available, and studies that can inform existing public health surveillance activities. In some states, the language of policies or laws refers simply to medical research as a permissible use of newborn screening samples (see Box 4-1 for examples of permitted uses). State laws or regulations on the secondary use of residual newborn screening samples typically only allow access by health department person- nel, laboratory personnel, or researchers and other individuals who have been granted departmental approval. When access to specimens is granted to researchers, policies often state that the health department is responsible for the preparation of specimens and other information approved for the study. In California, Missouri, Nebraska, and North Dakota, the state

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 USING RESIDUAL NEWbORN SCREENING SAMpLES BOX 4-1 Example of Permitted Uses In the state of Michigan, the Michigan Department of Community Health publishes a booklet that explains newborn screening and describes the kinds of research permitted with dried blood samples. It states, “The only studies that have been done and are allowed in the future are for medical or public health research. Some examples of studies that have been done include: (1) studying the incidence of different gene variants for an inherited condition (hereditary hemochromatosis); (2) developing additional laboratory screening methods (sickle cell diseases); and (3) searching for new disease markers (childhood leukemia).”a aFrom “Newborn Screening Dried Blood Spots and Michigan’s BioTrust Initiative.” Available at www.michigan.gov/documents/mdch/FAQbooklet_269087_7.pdf (accessed May 20, 2010). health department may bill researchers for these services. States that address research use also may require approval by an IRB and adherence to federal regulations governing the protection of human subjects. Some states prohibit access to personally identifiable information if specimens are released, including Indiana, South Carolina, and Texas. Poli- cies in Iowa and North Dakota require researchers to include in their study proposals a justification for accessing personally identifiable information. In California, Maine, Texas, Utah, and Washington, researchers who wish to access personally identifiable information associated with specimens may need to obtain consent from parents. In California, an IRB may modify the usual informed consent requirements for the release of personal informa- tion if it determines that the research has such public health value that the waiver is justifiable. State laws and policies may also dictate the use of anonymized or coded and double-blinded studies in research using residual newborn screening samples. In Michigan, for example, samples are sent to a biotrust and then are coded before they go to researchers. Some laws and regulations dictate how long samples are to be stored, with retention periods ranging from about one month to an indefinite length of time. Similarly, policies in at least eight states require that information provided to parents regarding the newborn screening program discuss stor- age and use of residual dried blood specimens. LEGAL CONCERNS REGARDING THE uSE OF RESIDuAL DRIED BLOOD SPOTS The issues surrounding state laws have become more prominent, said Ellen Wright Clayton, the Rosalind E. Franklin Professor of Genetics and Health Pol-

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 CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES icy and director of the Center for Biomedical Ethics and Society at the Vander- bilt University Medical Center, because the types of research that can be done using residual dried blood spots have increased dramatically in recent years. Research done in the past to develop new and better tests could be considered quality improvement in newborn screening. However, new technologies have made it possible to do much more with residual newborn screening samples, such as longitudinal epidemiological studies with links to other sources of data. “It is a very different kind of research that we’re talking about, mov- ing away from the traditional issues that exist just within newborn screen- ing to much broader and more expansive research,” Clayton said. The Office for Human Research Protections does not consider research that involves only coded private information or coded specimens to involve human subjects, as defined by federal regulations, as long as the follow- ing conditions are met: (1) The private information or specimens were not collected specifically for the currently proposed research project through an interaction or intervention with living individuals; and (2) the investiga- tors cannot readily ascertain the identity of the individuals to whom the coded private information or specimens pertain because of such factors as an agreement with a key holder or IRB or legal limits. These two factors are critical considerations for newborn screening programs, Clayton said. Human subjects research requires one to consider the risks and benefits as well as whether informed consent is required and whether it can be waived or limited in any way. If these provisions do not apply, research using residual newborn screening samples need not take these steps. Clayton used Utah as an example of a state where several issues are asso- ciated with state law. State regulations in Utah assert that dried blood spots become the property of the Department of Health. However, Clayton pointed out that property is not a unified thing. It is a body of rights and responsibili- ties that depend on context. “Just because I have a property interest in my house does not mean that I am free to burn it up to the ground. There are limits on what I am free to do.” The argument that blood spots belong to someone and are property is “unhelpful and obfuscating,” Clayton said. The Utah regulation also requires the department to tell parents about its policy on retention and use, allows the use of residual blood spots for newborn screening quality assessment activities, and permits the release of blood spots for research if the following conditions are met2: 1. The person proposing to conduct the research applies in writing to the department for approval to perform the research. The applica- tion shall include a written protocol for the proposed research, 2 Utah Admin. Code § R398-1-15 (2010) available at www.rules.utah.gov/publicat/code/ r398/r398-001.htm (accessed August 26, 2010).

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 USING RESIDUAL NEWbORN SCREENING SAMpLES the person’s professional qualifications to perform the proposed research, and other information if needed and requested by the department. When appropriate, the proposal will then be submit- ted to the department’s internal review board for approval. 2. The department shall de-identify blood spots it releases unless it obtains informed consent of a parent or guardian to release identifi- able samples. (De-identification is discussed in the next chapter.) 3. All research must first be approved by the department’s internal review board. These kinds of limitations are useful, Clayton said, because they address issues of oversight and transparency. In Texas, for example, a lawsuit made claims based on search and seizure, privacy, and liberty provisions in the U.S. Constitution, and a settlement was reached in part because of a determination that at least some of these claims were going to go forward as a matter of law. In this case, information released under a Freedom of Information Act request revealed that a proposed transfer of samples to the Armed Forces Institute of Pathology was not publicized because it raised ethical issues. “Anytime you don’t want to talk about something, you had better think about it,” said Clayton. “That’s a life message that I give to everybody every day.” The Havasupai case is another example where oversight and trans- parency were slighted. In this case, the samples had been collected to do research on diabetes, but they were also used to study schizophrenia and, ultimately, ancestry. The investigator was quoted in the New York Times as saying that she was just doing good science. But Native American populations have always been sensitive about using their blood samples for ancestry testing, Clayton observed. “There needs to be oversight and accountability to make sure that those kinds of decisions—which are just not good decisions—do not happen.” Most of the decisions made about the use of residual dried blood spots would be sustained with oversight. “But all it takes is one screw-up and you’re toast.” Finally, Clayton raised the issue of using DNA for forensics, which she described as “the elephant in the middle of the room.” Sometimes states have suggested that they would like to retain samples in order to help identify abducted children. “As a family law professor for many years, I have a really clear sense that the overwhelming majority of children who are abducted, are abducted in the context of messy divorces,” Clayton said. “So if that is what your concern is, the answer is to collect DNA at that point, not on everybody.” Some have suggested that residual newborn screening samples could be collected for a comparison database. But this raises issues of having a genetic database of the entire populace that could be accessed by the police,

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 CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES by Homeland Security, or by other entities. There is a general consensus that it is not appropriate to demand DNA from people for a general data- base that will be used for forensics purposes, Clayton said. People working with residual newborn screening samples need to be very clear about what they are going to use samples for and what they will not use them for, Clayton said. “I am not surprised that people are not happy about the idea of the state holding on to DNA samples for a long time and not telling them what they’re going to do with them.” It would be legally complicated for a state to design a mechanism that would forbid the use of samples for forensic purposes. For example, it would be difficult for a legislature to pass a law requiring newborn blood spots to be retained for quality assurance and research but did not allow law enforcement to access them under any circumstances. Or it is possible that the Department of Homeland Security might claim to have a right to access whatever samples a state holds. Some people argue that the police ought to have access to newborn blood spots to identify someone who is guilty. “Whether the states are going to be able to navigate that territory in a way that protects them both from the police in their own states as well as from federal agents is a tough, tough issue.” Waldo added that states do have some ways of protecting sensitive information from law enforcement use. For example, a state can adopt an official policy to never honor an informal law enforcement request for data, which is where most of the abuses occur. Repositories and other biobanks can also do what HIPAA requires. Under HIPAA, if an institution gets a request for data, one of two things must be done before the request is hon- ored. Either the patients must be notified with sufficient time to go to court and seek an order to quash or limit the request themselves, or the institution must take legal action to quash the request. This is not an illusory protec- tion, Waldo said. Hospitals and insurance companies have challenged law enforcement agencies in court with great success. In the legal sense, Clayton concluded, “to take the research issue out of context and not look at all the other concerns about DNA collections [would be] a mistake” which could jeopardize the entire newborn screen- ing system.

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