7
Workshop Overview and Wrap-Up

Residual newborn screening samples represent an unparalleled resource for translational research, said Wylie Burke in her concluding overview of the workshop. These samples are gathered from almost the entire population; they yield multiple measures of health and disease, both genetic and non-genetic; and information derived from them can be linked to other health databases, allowing a very wide variety of useful research to be undertaken.

Yet people are concerned about the use and retention of residual newborn screening samples, expressing concerns about discrimination, security, and use in forensic investigations. As one speaker at the workshop noted, parents have a fundamental desire to protect their children against unknowns that they cannot fully define. These concerns point to very important policy issues.

Newborn screening is a highly successful public health program. It provides important benefits to children and families. The core mission of this program needs to be safeguarded stressed Burke. Yet this resource also offers tremendous opportunities for translational research if the potential tensions and problems can be addressed.

Some newborn screening programs have exhibited a lack of transparency and accountability. If parents do not know that newborn screening is being carried out, they cannot access information about the program. Only 18 states have policies transparent enough to analyze, and state politics remain highly variable.

The variability among states means that important lessons can be learned from different experiences in different states. On the other hand,



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7 Workshop Overview and Wrap-Up Residual newborn screening samples represent an unparalleled resource for translational research, said Wylie Burke in her concluding overview of the workshop. These samples are gathered from almost the entire popula- tion; they yield multiple measures of health and disease, both genetic and non-genetic; and information derived from them can be linked to other health databases, allowing a very wide variety of useful research to be undertaken. Yet people are concerned about the use and retention of residual new- born screening samples, expressing concerns about discrimination, secu- rity, and use in forensic investigations. As one speaker at the workshop noted, parents have a fundamental desire to protect their children against unknowns that they cannot fully define. These concerns point to very important policy issues. Newborn screening is a highly successful public health program. It provides important benefits to children and families. The core mission of this program needs to be safeguarded stressed Burke. Yet this resource also offers tremendous opportunities for translational research if the potential tensions and problems can be addressed. Some newborn screening programs have exhibited a lack of transpar- ency and accountability. If parents do not know that newborn screening is being carried out, they cannot access information about the program. Only 18 states have policies transparent enough to analyze, and state politics remain highly variable. The variability among states means that important lessons can be learned from different experiences in different states. On the other hand, 

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 USING RESIDUAL NEWbORN SCREENING SAMpLES national guidelines might be helpful in identifying good models and asking how these models might be further disseminated. For example, a uniform definition of “de-identified” could help ensure that security measures are appropriate to the associated level of risk. Not enough has been done to bring families and physicians along in understanding newborn screening, Burke said. Stakeholders need to think about how to move forward proactively. Clear measures for accountability need to be in place, with appropriate steps to be taken when inappropriate actions are performed. Trust is essential, but trust requires trustworthiness. Building trust requires dialogue to identify common ground among researchers, the public health officials who implement newborn screening programs, and the public that is affected. Tough issues require additional deliberation. The right thing to do cannot be determined in advance for every circumstance. For example, the use of residual newborn screening samples in forensics has generated considerable concern. But forensics use can take on many different forms, from looking for the cause of death in DNA to creating databases that will be available to the FBI for criminal investigation. Burke called attention to the need for further discussion and clarification of the use of samples for forensics in order to determine appropriate and inappropriate uses and the corresponding policies that are needed. Another difficult issue involves the destruction of samples after parents opt out. Different stakeholders may come to different conclusions. National deliberations involving all of the stakeholder groups could help identify more robust models. The need for quality assurance in various areas, from the public health programs at one end of the spectrum to the reporting and use of research results at the other, raises many issues. For example, at what point do researchers cross a line between moving forward with appropriate IRB review alone and receiving formal individual consent? Different kinds of research have different needs and demands and these differences need to be communicated effectively to the public, said Burke. Large sets of samples have been gathered without consent. These sam- ples have great value for research. For example, Michigan has created and incorporated a nonprofit biobank that holds the residual dried blood spots collected in that state over the past 25 years, about 4 million altogether, for which the state has no plans of getting consent. Under what conditions and circumstances can these samples be used? Education has to occur at multiple levels—both before and after a woman gives birth, for instance, and with mothers, families, and the general public. People need to be much more aware of newborn screening programs and the potential for secondary research emphasized Burke. Public service

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 WORKSHOp OVERVIEW AND WRAp-Up announcements as well as more targeted outreach could play an important role in accomplishing this. Health professionals also need enhanced levels of education, especially those who are involved in pre- and post-natal care. But what works? How can information best reach people? What kinds of media and message should be used? How can these issues be clearly explained? How will this information dissemination be funded? Resource constraints are a major problem, Burke said. One must have resources in order to store samples properly, to implement appropriate opt-out and informed consent procedures, and to develop policies on tough issues and ensure that all stakeholders are engaged in that policy develop- ment. Public health agencies will have a very hard time taking on all of these tasks on their own. Finally, trust requires good stewardship of samples. Yet it is not clear what good stewardship entails in this setting. Who should be involved, how should the public be involved, how should information be communicated to the public, what kinds of access policies are consistent with good steward- ship, and who gets access to the data? All these various questions lead to one final tough question: How can priorities be set for doing research on these precious resources? The samples were collected under a mandate for public health, yet they have a rapidly expanding array of potential research uses. What kind of responsibilities for reporting back to the public does an honest steward assume? In a final comment, Ellen Wright Clayton emphasized the distinction between newborn screening for public health and the secondary uses of residual newborn screening samples for research. These two activities raise different kinds of concerns. It is easy to be defensive about criticisms of newborn screening programs and associated research activities. But it is also important to look into the issues behind the criticism, Clayton said. “Almost always there is something that we need to attend to, that needs to be paid attention to, and I would caution us to do this. Our job as people who care about science and about improving health is to help people understand what research is about and the idea that research in fact is not something that is done in everybody else’s backyard. I think we have to take on that mantle and do that work.”

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