Residual samples used to develop a new test for “bubble boy disease,” but recent controversies also show that transparency is key to keeping samples available

 

A front-page story in the San Francisco Chronicle several weeks ago illustrates the direct and downstream need for blood samples taken from babies just after birth. The samples, in the form of blots on filter paper, are used to test for a panel of diseases that could prove fatal unless detected early.

 

babies

But, the newborn blood samples left over after screening also have value beyond their immediate purpose. They can be used to develop tests for additional diseases in newborns, such as severe combined immunodeficiency disorder (SCID), which can kill an infant within months if gone untreated. About a dozen babies are born in California each year with the condition.

 

The story in the Chronicle pictured a 5-month-old girl named Annalou (right), the first of seven babies to be diagnosed with SCID in California since August because of a new test for the disease. The test’s creator, a pediatrician at the University of California-San Francisco named Jennifer Puck, told the Chronicle that SCID babies can “have a $1 million hospital bill” from infections—and that’s before the bone-marrow transplant they need to grow a new immune system.

 
How did Puck come up with this life- and wealth-saving test? In addition to other resources, she used residual newborn blood spots, according to Michelle Lewis, a research scholar at the Johns Hopkins Berman Institute of Bioethics. Lewis, a lawyer and physician herself, has followed Puck’s work in refining the test.

 

“This new test for SCID was developed in part by using residual blood samples,” said Lewis, who led an in-depth analysis of how state laws in America address the storage and future use of surplus newborn blood samples. The analysis, which was done in collaboration with researchers from the University of Utah and Case Western Reserve University, was published on March 28 in the journal Pediatrics.

 

AAP JournalWhat prompted their state-by-state examination was a need for more clarity about what happens to these valuable specimens after newborn screening is conducted, and whether hospitals and/or health agencies are required by law to tell parents how their babies’ blood samples will be kept and could be used.

 

Lewis’s team found that state laws and policies regarding those practices range from explicit to non-existent—leaving many parents ill-informed about how their babies’ left over blood might be used. At worst, families can feel deceived and angered by a lack of transparency about what states do with residual newborn blood samples.

 

In 2009, families in Minnesota and Texas sued their respective state health departments for storing surplus newborn blood samples without their knowledge or consent. News stories about the outrage expressed by parents—who claimed the practice violated their right to genetic privacy and full disclosure—spawned headlines such as CNN’s: “The government has your baby’s DNA.”

 

 

Last February, Texas settled out of court with the suing families, eventually destroying more than 5 million newborn samples that dated back to 2002. (See previous Focus On piece.)

 

Lewis said that it seems reasonable to her for parents to want to know who might have access to these biological specimens, and how those bits of us (or our babies) might be used—particularly because potentially identifiable information can be obtained from the samples.

 

Vast stores of newborn blood samples could serve as a valuable database for biomedical research, drug development or population-health monitoring purposes. But besides those secondary uses, they are absolutely essential for improving the quality, operation and breadth of the newborn screening program itself—for instance, using residual newborn blood samples to develop and refine a test for SCID.

 

The states of Wisconsin and Massachusetts have also tried testing for SCID, on a trial basis, as part of their newborn screening programs. The genetic disorder is sometimes called “bubble boy disease,” after the famous case of David Vetter, who lived most of his 12 years in a large, rectangular enclosure in the 1970s and ‘80s to protect him from germs.

 

Whether the developers of the new SCID test used left over blood samples of California infants is unclear, according to Lewis. But the innovation nonetheless underscores the value of such samples, as well as the importance of ensuring that they are available for the future innovations.

 

“Residual newborn screening blood samples have the potential to be a tremendous resource for biomedical research in this country,” Lewis said. “The destruction of residual samples in Texas demonstrates the damage that can be done to the research enterprise if there is a public perception that states are using the residual samples for purposes other than that for which they were collected.”

 

In their paper, Lewis and her colleagues state that the lawsuits in Minnesota and Texas reflect the need for more comprehensive and transparent state policies regarding newborn blood samples. One reason why the laws vary so much across the country is that each state develops its own set of laws regarding newborn screening.

 

This is also why variation exists among states regarding which disorders are included in state newborn screening panels: Each state can decide which diseases newborns get screened for.

 

Lewis’s team found that most states lack any requirement that parents be informed that their child’s blood samples may be retained for future use. They also learned that just 13 states have laws that specify how residual samples of infant blood might be used—those possible uses often described in broad terms, however.

 

Below are some other statistics they reported:

 

  • Laws in 20 states address the retention and/or use of babies’ blood samples.
  • In 18 states, newborn screening laws fail to address the retention or use of the samples or their related information.
  • Information related to newborn screening is deemed confidential in 26 states although limitations on that protection vary.
  • Ten states specify the purposes for which information from the newborn blood samples may be used, such as public-health purposes, scientific research and research concerning medical, psychological or sociological issues.
  • In four states, the samples become state property; in two of these states, parents can object in writing.
  • Only eight states require that parents be provided information regarding the retention of newborn blood samples.

 

For more about the paper, click here.

For more on the newborn blood spots debate click here.

 

Lewis MH, Goldenberg A, Anderson R, Rothwell E, Botkin J. State Laws Regarding the Retention and Use of Residual Newborn Screening Blood Samples. Pediatrics. 2011 Mar 28. [Epub ahead of print]

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Michael Pena
Michelle Lewis

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