Blood Feud: Controversy Arises Over Newborn Screening Program

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Science Feature - July 2009

 

Tex Med. 2009;105(7):47-49.

By  Ken Ortolon
Senior Editor

For some 20 years, Jacqueline Hecht, PhD, has examined the role genetics plays in children born with cleft lip, cleft palate, or clubfoot.

"We're trying to identify the genes that contribute to these disorders," said Dr. Hecht, professor of pediatrics at The University of Texas Medical School at Houston. "Family studies tell us that genes play an important role, and we are in the process of identifying those genes. Then we may be able to identify who's at higher risk to have children with these conditions."

As part her research, Dr. Hecht uses dried blood spots from the Texas Department of State Health Services' (DSHS) newborn screening program to compare genetic material from all children born in Texas with the conditions.

While her research has not led to a screening test, she has identified genes that she and other researchers are investigating as potential culprits for these conditions.

However, Dr. Hecht's research could be in jeopardy because of a small but vocal group of critics concerned about indefinitely storing the newborn screening samples and using them in research. Those critics complain that researchers do not ask parents for their consent for retaining the samples. And, they say, using the material could lead to breaches in confidentiality, genetic profiling, and discrimination by future employers or insurance companies.

The issue has landed in federal court in Austin and in the Texas Legislature, as both sides of the dispute seek a solution that will satisfy everyone.

Meanwhile, although it does not address all the critics' concerns, DSHS has already set up a process allowing parents to request destruction of their child's blood samples. DSHS had received almost 50 such requests as of mid-May.

Information on how to opt out of the program is on the  agency's Web site  [ PDF ].

 

 

To Store or Not to Store

For more than 40 years, the state has tested all newborns in Texas for several genetic disorders. In 2007, DSHS increased the number of disorders included in the screening program from about a dozen to 27. Many of these diseases have no immediate, visible symptoms, but unless detected and treated early, they can cause severe debilitation, mental retardation, and even death.

In the past, DSHS destroyed the samples. But in 2002, at the request of the DSHS Birth Defects Epidemiology and Surveillance Branch, the agency began collecting and storing the blood samples indefinitely for uses such as cancer research, birth defect studies like those conducted by Dr. Hecht, and calibration of laboratory equipment. All states screen newborns for genetic disorders, and several have similar programs that allow the use of deidentified blood samples for research.

But the Texas practice came under fire recently after a small group of parents complained that they were never informed that their children's genetic material might be stored and used for purposes other than the newborn screenings.

Among those protesting the program is Parents Requesting Open Vaccine Education (PROVE), which also objects to storing children's immunization data in the state's  ImmTrac vaccine registry .

Dawn Richardson, PROVE president and cofounder, says her group does not oppose the screening program but is concerned because the state is storing and using the blood samples without parents' permission. Ms. Richardson has serious concerns about who might have access to that genetic material or the data on genetic disorders collected from it.

"It's a new area and it could have a profound impact on that child's future," she said. "What we know from history with the state databases and the collection of information through databases is that they're typically expanded. For example, originally, private insurers did not have access to the data in the immunization-tracking registry. That's been expanded, and now they do."

In March, the Texas Civil Rights Project (TCRP) challenged the program in a federal district court in Austin as violating both the Fourth and Fourteenth Amendments to the U.S. Constitution. The Fourth Amendment prohibits unreasonable search and seizure. The Fourteenth Amendment provides equal protection under the law for all. A similar lawsuit was filed in Minnesota.

TCRP Director Jim Harrington, JD, says he believes retention and use of the blood spots clearly violates the unreasonable search and seizure standard. Texas Attorney General Greg Abbott's office was preparing a response to the suit in mid-May.

 

 

Opt In or Opt Out

DSHS officials contended in a 2006 memo that they didn't need additional statutory authority to store the blood samples because using them for health-related research is "consistent with this agency's overall mission." Some supporters of the program also point out that, under state law, parents can opt out of having their child screened. That law, however, allows parents to opt out only for religious reasons.

Houston neonatologist Michael Speer, MD, chair of Texas Medical Association's Board of Trustees, says concern over use of these blood samples arose because of "misinformation that anybody can get their hands on it." That is not the case, he says.

DSHS officials say the blood spots are deidentified before being provided to researchers. Dr. Hecht says she knows only the gender and the diagnosis of the children whose samples she uses.

The controversy, however, led state Rep. Myra Crownover (R-Denton) to file House Bill 1672, which allows parents to request destruction of their child's sample and adds additional confidentiality safeguards. The measure passed the legislature and was signed by Gov. Rick Perry on May 27. It took immediate effect.

Specifically, the bill requires DSHS to develop a process whereby parents would be informed that the samples may be retained. It also requires destroying the samples within 60 days after parents submit a written statement prohibiting retention of the materials.

HB 1672 also spells out how and when information from the samples can be disclosed, such as for diagnosis or follow-up, upon consent of the parent, or for research purposes. The state could release deidentified data for research purposes only when an institutional review board or privacy board approves disclosure.

In testimony before the Senate Health and Human Services Committee, Dr. Speer supported HB 1672 on behalf of TMA, the March of Dimes Texas Chapter, the Texas Pediatric Society, and the Texas Academy of Family Physicians, saying the bill addresses parents' concerns. He said continued research using the blood spots would "allow investigators to unlock some of the clues and causes of a number of serous childhood disorders," including birth defects, cancer, lead poisoning, infectious diseases, premature birth, autism, and mental retardation.

Mr. Harrington also says HB 1672 addresses concerns about what to do about future blood samples, but not the 4.2 million blood samples already stored.

"Under the law, I think they probably have to be thrown away," he said.

PROVE's Ms. Richardson, however, says giving parents a chance to opt out of having their child's genetic material retained for research is not good enough. She and other opponents of the current program want to change the law to require that parents opt in.

"Given that this is such a new area and the potential impact is just simply not known, we really believe strongly in opt-in, informed consent. Parents should be told what is going to be done with the sample and asked if they want to participate and have their child's sample used for research that may not benefit the child whatsoever," Ms. Richardson said.

Supporters say research using the blood spots is vital. In April, the American College of Medical Genetics (ACMG) concluded the blood spots are the "only source of material available to carry out" pilot studies to create additional newborn screening programs covering other genetic disorders.

ACMG said opponents' arguments "are based on unsubstantiated and highly exaggerated privacy concerns. Such destruction of dried blood spots would significantly and negatively impact the quality and development of newborn screening programs."

Dr. Hecht says similar research already has led to both a screening test and treatment for some conditions, such as the use of folic acid to prevent spina bifida. "Taking folic acid before pregnancy has reduced spina bifida by 70 percent," she said.

Dr. Speer says it is critical that type of research continue.

"Without having this resource, there's no way to couple new emerging therapies with how many people in the population those therapies might impact favorably," he said.

Ken Ortolon can be reached by telephone at (800) 880-1300, ext. 1392, or (512) 370-1392; by fax at (512) 370-1629; or by e-mail at  Ken Ortolon .

 

 

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