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Pediatrician Urges Changes for Newborn Blood Spot Policies

By Matt Jones

NEW YORK (GenomeWeb News) – Any new policies developed to address concerns about what happens to blood spots collected from newborns should focus on allowing the parents to choose what happens to these samples, which are valuable to researchers long after they are used for newborn screening, according to University of Michigan Health System pediatrician Beth Tarini.

Recent lawsuits and public concerns over residual dried bloodspots (DBS), which are initially used for newborn screening (NBS) tests and are then stored for research use, have brought to the fore privacy and other biomedical ethics issues and have stirred the Department of Health and Human Services to consider new ways for handling these samples. Changes to such policies could have widespread implications for the research community.

Tarini told GenomeWeb Daily News today that HHS and some states that are considering new DBS rules should take a page from the State of Michigan, which has adopted a new policy that separates the doctor-parent discussions about newborn screening from those having to do with keeping bloodspots, and allows the parents to choose whether or not they want them used for research.

Many states have varying policies about how this process happens, and Tarini, who is an assistant professor in the Child Health Evaluation and Research Unit Division of General Pediatrics at the University of Michigan, suggested that they overwhelmingly do not show the parents much respect or give them much voice in what happens to these bloodspots.

Newborn screening is mandatory in all states and is thought of as similar to vaccinations, as they represent a "highly successful public health program that identifies rare genetic, congenital and functional disorders, ensures early management, and endeavors to ensure follow-up for those affected," according to an HHS-commissioned report on the subject that was published late last year.

"The wrinkle here is that the bloodspots were taken as part of a mandatory screening program, with little discussion," Tarini told GWDN.

That policy can sow confusion, fear, and disempowerment because it creates "a situation where a bloodspot was collected for mandatory public health programs for one use, and then it's being used in another fashion without awareness by people that donated that spot," she said.

According to the HHS report, drafted by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), retaining these bloodspots, which are sometimes held until a child is 18, can provide data for a range of research applications.

Because these samples are drawn within 24 hours after a baby is born, they "represent a unique time frame where most influences on the contents of the blood are in utero exposures," SACHDNC explained. Because of their uniqueness, they may be used for studying inherited risk conditions, and may be compared later and against other samples from the same regions to study environmental exposures.

DBS have "generated significant findings" and have led to "direct public health benefits," the report said. They have been used to add new conditions to testing panels, such as Severe Combined Immune Deficiency, and have been used to develop a PCR-based test for the condition. Such research also has led to more accurate and affordable ways to screen for disorders, including a new testing system that is in development for Fragile X syndrome.

Tarini said in a commentary in the journal Genetics in Medicine last week that two lawsuits filed in 2009, combined with the rapid advance of next-generation genomics technologies, spurred HHS to commission the SACHDNC report.

One lawsuit filed in Minnesota, which is on its way to the state's Supreme Court alleged that the state's policy of storing and using DBS samples violated its own Genetic Privacy Act. Another suit filed by a group of families against the Texas Health Department claimed that the storage and use of NBS for undisclosed research purposes violated their constitutional protection from unlawful search and seizure. That suit was settled, but under the settlement agreement the state was required to destroy more than 5 million residual DBS, which Tarini in her commentary said "stunned many in the NBS community."

"Those lausuits mean that some portion of the public has concerns about these bloodspots," she told GWDN, adding that she sees these concerns being stoked in a political environment in which anti-government attitudes and suspicions are bleeding over into health policy. She said that some the allegations about how these bloodspots are being used and the claims and presumptions about the things that are done "are preposterous."

Tarini said that discussions with opponents of DBS storage have shown that what begins as privacy issues make sudden leaps to worries about Orwellian 'Big Brother' scenarios, and to socialized medicine and Obamacare. "But the concerns and the questions about what's happening to these bloodspots — simply asking what happens to them after the screening — are legitimate questions."

She said that the lawsuits show that there are concerns among the public and there is "obviously some degree of misinformation going on, at least in some of the claims being made. However, neither of those invalidate the responsibility ... to have a discussion, and inform, and be transparent about bloodspots with parents," she continued.

Tarini suggested that Michigan's policy has the best balance and provides the most transparency by separating the NBS and DBS discussions, and by allowing the parents to choose to have the DBS destroyed, to allow it to be used for research, or to have it retained but not used for research.

"The real challenge with the storage and use of residual DBS is neither an ethical nor a legal one—it is a public policy one," Tarini stated in her commentary.

"These samples were taken as part of a mandatory public health screening program. Failure to allow parents a voice in whether those samples are used for other purposes fuels the anti-government ire. Some worry that establishing consent/dissent processes for storage and use of DBS will hamper enrollment. Paradoxically, it is likely that allowing parents the opportunity to say 'no' may actually get them to say 'yes.'"

The SACHDNC report has made several recommendations to HHS regarding NBS/DBS issues, including that all states should have policies that specify who may access and use DBS samples and how they are to be stored, handled, and measures should be taken to ensure greater privacy and confidentiality. It also suggests HHS develop strategies for educating healthcare professionals who provide prenatal and postnatal care about newborn screening and DBS processes; work to ensure that families are educated about these processes; start a national dialogue that educates the public about NBS/DBS and engages federal and state stakeholders; and explore the utility and feasibility of establishing a voluntary national DBS repository.