N.J. health officials advise adding genomic sequencing to newborn disease screening

New Jersey health officials aim to add genomic sequencing — a new technology that allows scientists to document a person’s entire DNA — to the state’s mandatory newborn blood screening program.

It’ll likely take five years, at minimum, to sort out the practical and ethical implications of adopting the technology, said Ernest Post, chairman of the state’s newborn screening advisory review committee. But Post called it an urgent task, as both public health officials in other states and private industry race to embrace it as a tool to more fully screen babies for disease.

Post, speaking at the committee’s biannual meeting Tuesday, said a subcommittee formed last fall to examine its potential adoption should have recommendations and a final report done before the committee reconvenes in November.

The committee can then promote those recommendations as a template for legislation so that the recommendations come from state health officials rather than originating with “lay people who are not familiar with the science,” Post said.

“There are lots of important issues we need to address before that happens here,” he added.

The committee also will consider whether genomic sequencing would be optional supplemental screening or part of mandatory testing, and how either would be funded.

The technology already is commercially available, making its use an equity issue because low-income parents can’t afford it, committee members said.

The American Civil Liberties Union has objected to the use of genomic sequencing in newborn blood screening programs, raising concerns about police access to blood spot records and the privacy of DNA sequencing data.

If New Jersey adopts genomic sequencing, policymakers must create “a real privacy-protective infrastructure to make sure that genomic data isn’t abused,” said Dillon Reisman, an ACLU-NJ staff attorney.

“What we’re talking about is information from kids that could allow the state and other actors to use that data to monitor and surveil them and their families for the rest of their lives,” Reisman said. “If the goal is the health of children, it does not serve the health of children to have a wild west of genomic data just sitting out there for anyone to abuse.”

Concerns about the privacy of health data drove several New Jersey parents to file a federal class-action lawsuit against the state last fall over New Jersey’s newborn screening program. In that ongoing case, the parents said they did not give informed consent when hospitals pricked their babies’ heels for blood testing and object to the state storing the blood samples — known as blood spots — for 23 years for uses officials refuse to disclose.

The state is now in talks with attorneys from the Institute for Justice, the Virginia-based public-interest law firm that sued, to settle the case. A judge gave both sides until June 4 to file a joint status letter in the case.

Brian Morris, an institute attorney, told the New Jersey Monitor he’s “not as optimistic as we were” that they’ll reach an agreement.

“If we can’t voluntarily come to a resolution about New Jersey making sure its program complies with constitutional requirements, we’re willing and able and excited to have a court do it for them,” Morris said.

On genomic sequencing, he echoed Reisman’s call and demanded robust requirements that ensure parents’ informed consent and protect babies’ Fourth Amendment right to be free of unreasonable searches and seizures.

“Having those constitutional guardrails prevents bureaucrats in Trenton saying: ‘We know what’s best, we’re not even going to ask parents, and we’re just going to go ahead and take this information,’” Morris said.

New Jersey’s newborn blood screening program, which began in 1964, now tests the 100,000 babies born in the Garden State each year for 61 diseases. It’s mandatory, with only families citing religious objections allowed to opt out.

At Tuesday’s meeting, committee members heard a report from Miriam Schachter, program manager at the state’s Newborn Screening Laboratory, who said program representatives are midway through visiting New Jersey’s 45 birthing hospitals to educate them about the program. Their primary goal is to reduce deficiencies in data collection and blood swabbing and ensure samples’ speedy delivery to the lab, she added.

Committee members also heard a researcher’s report on New Jersey’s participation in a pilot program tracking congenital cytomegalovirus, which can lead to lifelong health problems, including hearing or vision loss, seizures, microencephaly, and developmental delays. The newborn blood screening program doesn’t currently test for the condition, but New Jersey got federal funding to track it in infants and children to age 6 to develop public health responses.