A local family is concerned that fears about medical privacy will hurt a program designed to save babies from rare diseases.

Lorena residents Andrew and Kelly McDonald and their 16-year-old daughter, Macy, recently traveled to Austin to testify against a bill related to the state’s newborn screening program.

(Left to right) Macy, Andy and Kelly McDonald are rallying against a bill that would force parents to opt in, rather than opt out, to a health screening program for newborns.
Rod Aydelotte / Waco Tribune-Herald

The program holds special importance to the family because Macy has a rare disease that was detected by the testing.

Called phenylketonuria, or PKU for short, the disease makes Macy’s body unable to process an amino acid found in many foods.

Left untreated, the disease leads to a toxic buildup of the amino acid in the brain, causing severe neurological damage. But if the disease is detected early, relatively simple treatments allow people like Macy to lead normal lives.

The legislation, already passed by the House and expected to be voted on by the Senate today, would not affect newborn screening itself.

But it would bar the state from storing leftover blood samples for possible research use, unless parents give consent.

Parents can request that samples from their baby be destroyed after screening. But absent a request, the state can hold on to them.

Supporters of House Bill 411 said its opt-in approach is warranted because of medical privacy concerns and the state’s lack of transparency about the samples.

Before last year, the state did not inform parents samples might be used for research and a pending lawsuit filed by a civil rights group alleges the state has lied about how samples have been used.

But the McDonalds oppose the opt-in provision because they said it will result in fewer samples being available for research.

That would be a loss, they said, because the samples are the best tool scientists have for identifying rare diseases that need to be screened for and for developing treatments and cures.

Texas’ collection is especially important, the McDonalds said, because of the state’s size and its diverse ethnicity.

“It’s important for other kids to have the same opportunity,” for a healthy life, said Macy, a sophomore at Lorena High School.

Newborn screening is done by collecting a few drops of blood from a heel prick. The blood is put on absorbent paper and sent to a lab for testing. In Texas, 28 conditions are screened for.

To make sure there are adequate samples for testing, hospital personnel typically collect enough blood for five spots per heel prick.

Screening generally only uses two of them, leaving three spots that could be used for research. Also, some spots are used to calibrate lab equipment.

Jim Harrington, director of the Texas Civil Rights Project, said the research he’s seen indicates only 15 to 25 percent of parents would deny consent.

But even if the percentage is slightly higher, there will be plenty of spots for research, he said.

The bottom line, Harrington said, is parents should have the right to determine how blood spots from their children are used. Making research consent opt-in rather than opt-out gives them more control, he said.

‘Having your DNA’

“We’re talking about the government having your DNA forever,” Harrington said.

Harrington said the bill is also important because it would require the state to disclose how the spots are used. In addition, it specifies that samples couldn’t be used for forensic science or insurance underwriting purposes.

Another notable part of the bill is that parents could ask for the spots to be destroyed at any time, Harrington said. Such a request could also be made by the person whose sample is being stored, once that person is of legal age.

Those provisions are key, Harrington said, because the state has been less than forthcoming about how the spots have been used. Samples from Texas have been sent to pharmaceutical companies and the military, he said.

“The question is really trying to keep the government in line,” Harrington said.

The McDonalds said they think the privacy issues have been overblown.

For one thing, there is a de-identification procedure for the spots, meaning researchers who use them do not know which baby they correspond with. They only see a number, not a name.

Also, it’s very difficult and expensive to get DNA or genetic sequencing information from the blood spots, Kelly McDonald said.

That is only done in rare instances where there is a particular need. Yet, some supporters of the bill suggest the research could lead to such information being routinely developed, correlated with babies’ names.

“They’ve misinformed the public and by doing so, have created a fear that doesn’t really have a basis,” McDonald said.

The family is also concerned because the bill has no provisions for educating parents about blood spot research. New parents, exhausted from the birth process or otherwise distracted, are not likely to have the time or energy to research the issue. Saying no may seem like the easier option, they said.

In addition, the family is worried passage of the legislation will open the door to challenges against newborn screening itself.

Across the country, some of the same advocates who have pushed legislation related to blood spot privacy have also attempted to make screening opt-in, Kelly McDonald said.

Such a provision was introduced in the Texas Legislature earlier this year. It was withdrawn, but the McDonalds said it shows the “slippery slope” that can develop.

Harrington said that fear is unwarranted. While there are a few people who want screening to be opt-in, they do not have many allies, he said.

“They certainly are a powerless minority,” Harrington said. “It’s not going to happen.”

cculp@wacotrib.com

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