Cutting-edge DNA technology could boost cystic fibrosis screening for newborns

Stanford University scientists say they’ve devised a more accurate and comprehensive DNA test to screen newborns for cystic fibrosis.

Every state screens newborns for cystic fibrosis, but the current sequence of tests can miss cases. The new method, presented in a study published Feb. 1 in the Journal of Molecular Diagnostics, promises to be more efficient and cost effective, researchers said. It may also improve screening for nonwhite babies, for whom cystic fibrosis is rarer and harder to diagnose.

The test “offers the promise of potentially eliminating the false negative results that lead to miss ed cases,” said Dr. Philip Farrell, a former dean of the University of Wisconsin School of Medicine and Public Health, Madison.

Cystic fibrosis is caused by a defect in the CFTR gene. Current genetic screens look for 40 of the most common mutations of the CFTR gene in newborns. Yet, any of the more than 2,000 known mutations in that gene could play a role in the disease, and there are likely others that have not yet been discovered.

The new test uses “next generation” DNA sequencing that can quickly and more cheaply look at the entire CFTR gene, not just selected mutations. It does not require an extra blood sample. Rather, it uses the tiny amount of blood drawn from the common newborn heel stick test that’s already used to screen for a number of diseases, including cystic fibrosis.

The researchers say this advance can enable testing labs to review many newborn samples at a time and reduce costs, allowing a technology previously used to diagnose only individual cases to be applied to a large population.

“Next generation” DNA sequencing has been used in recent years to diagnose disease, but is only now becoming cheap and fast enough to even be considered for large-scale population screening. Scientists from Stanford, the California Department of Public Health, and the University of Texas at Austin conducted the research. Other U.S. scientists have been working on similar newborn screening approaches using next-generation DNA sequencing.

The test is not only quicker and cheaper, but also “very accurate,” said Dr. Iris Schrijver, a Stanford University Medical School pathology professor who is one of the study’s authors. “We can look at the entire gene and assess … all kinds of mutations in this single test,” possibly in half the time of a current DNA test.

A spokesman for the California Department of Public Health, which oversees newborn screenings, said the current cost, including DNA testing, is approximately $113 per newborn, which is typically covered by insurers.

The department declined to make one of its scientists, a coauthor of the study, available for an interview. It also declined to respond directly to questions about the cost of these new tests or whether it might adopt them.

In general, the spokesman noted, the agency’s newborn screening program evaluates potential new testing methods for effectiveness and cost.

“Historically, changes to existing testing methods have been rare, so the department cannot speculate on a timeline for this process,” the spokesman wrote in an email.

However, a Stanford spokeswoman said its laboratory is currently running side-by-side comparisons of the new test and the current one, and its lab physicians expect to meet with public state health officials within the year to discuss next steps.

This story was produced by Kaiser Health News, which publishes California Healthline, a service of the California Health Care Foundation.

Stanford University scientists say they’ve devised a more accurate and comprehensive DNA test to screen newborns for cystic fibrosis.

Every state screens newborns for cystic fibrosis, but the current sequence of tests can miss cases. The new method, presented in a study published Feb. 1 in the Journal of Molecular Diagnostics, promises to be more efficient and cost effective, researchers said. It may also improve screening for nonwhite babies, for whom cystic fibrosis is rarer and harder to diagnose.

The test “offers the promise of potentially eliminating the false negative results that lead to miss ed cases,” said Dr. Philip Farrell, a former dean of the University of Wisconsin School of Medicine and Public Health, Madison.

Cystic fibrosis is caused by a defect in the CFTR gene. Current genetic screens look for 40 of the most common mutations of the CFTR gene in newborns. Yet, any of the more than 2,000 known mutations in that gene could play a role in the disease, and there are likely others that have not yet been discovered.

The new test uses “next generation” DNA sequencing that can quickly and more cheaply look at the entire CFTR gene, not just selected mutations. It does not require an extra blood sample. Rather, it uses the tiny amount of blood drawn from the common newborn heel stick test that’s already used to screen for a number of diseases, including cystic fibrosis.

The researchers say this advance can enable testing labs to review many newborn samples at a time and reduce costs, allowing a technology previously used to diagnose only individual cases to be applied to a large population.

“Next generation” DNA sequencing has been used in recent years to diagnose disease, but is only now becoming cheap and fast enough to even be considered for large-scale population screening. Scientists from Stanford, the California Department of Public Health, and the University of Texas at Austin conducted the research. Other U.S. scientists have been working on similar newborn screening approaches using next-generation DNA sequencing.

The test is not only quicker and cheaper, but also “very accurate,” said Dr. Iris Schrijver, a Stanford University Medical School pathology professor who is one of the study’s authors. “We can look at the entire gene and assess … all kinds of mutations in this single test,” possibly in half the time of a current DNA test.

A spokesman for the California Department of Public Health, which oversees newborn screenings, said the current cost, including DNA testing, is approximately $113 per newborn, which is typically covered by insurers.

The department declined to make one of its scientists, a coauthor of the study, available for an interview. It also declined to respond directly to questions about the cost of these new tests or whether it might adopt them.

In general, the spokesman noted, the agency’s newborn screening program evaluates potential new testing methods for effectiveness and cost.

“Historically, changes to existing testing methods have been rare, so the department cannot speculate on a timeline for this process,” the spokesman wrote in an email.

However, a Stanford spokeswoman said its laboratory is currently running side-by-side comparisons of the new test and the current one, and its lab physicians expect to meet with public state health officials within the year to discuss next steps.

This story was produced by Kaiser Health News, which publishes California Healthline, a service of the California Health Care Foundation.

Stanford University scientists say they’ve devised a more accurate and comprehensive DNA test to screen newborns for cystic fibrosis.

Every state screens newborns for cystic fibrosis, but the current sequence of tests can miss cases. The new method, presented in a study published Feb. 1 in the Journal of Molecular Diagnostics, promises to be more efficient and cost effective, researchers said. It may also improve screening for nonwhite babies, for whom cystic fibrosis is rarer and harder to diagnose.

The test “offers the promise of potentially eliminating the false negative results that lead to miss ed cases,” said Dr. Philip Farrell, a former dean of the University of Wisconsin School of Medicine and Public Health, Madison.

Cystic fibrosis is caused by a defect in the CFTR gene. Current genetic screens look for 40 of the most common mutations of the CFTR gene in newborns. Yet, any of the more than 2,000 known mutations in that gene could play a role in the disease, and there are likely others that have not yet been discovered.

The new test uses “next generation” DNA sequencing that can quickly and more cheaply look at the entire CFTR gene, not just selected mutations. It does not require an extra blood sample. Rather, it uses the tiny amount of blood drawn from the common newborn heel stick test that’s already used to screen for a number of diseases, including cystic fibrosis.

The researchers say this advance can enable testing labs to review many newborn samples at a time and reduce costs, allowing a technology previously used to diagnose only individual cases to be applied to a large population.

“Next generation” DNA sequencing has been used in recent years to diagnose disease, but is only now becoming cheap and fast enough to even be considered for large-scale population screening. Scientists from Stanford, the California Department of Public Health, and the University of Texas at Austin conducted the research. Other U.S. scientists have been working on similar newborn screening approaches using next-generation DNA sequencing.

The test is not only quicker and cheaper, but also “very accurate,” said Dr. Iris Schrijver, a Stanford University Medical School pathology professor who is one of the study’s authors. “We can look at the entire gene and assess … all kinds of mutations in this single test,” possibly in half the time of a current DNA test.

A spokesman for the California Department of Public Health, which oversees newborn screenings, said the current cost, including DNA testing, is approximately $113 per newborn, which is typically covered by insurers.

The department declined to make one of its scientists, a coauthor of the study, available for an interview. It also declined to respond directly to questions about the cost of these new tests or whether it might adopt them.

In general, the spokesman noted, the agency’s newborn screening program evaluates potential new testing methods for effectiveness and cost.

“Historically, changes to existing testing methods have been rare, so the department cannot speculate on a timeline for this process,” the spokesman wrote in an email.

However, a Stanford spokeswoman said its laboratory is currently running side-by-side comparisons of the new test and the current one, and its lab physicians expect to meet with public state health officials within the year to discuss next steps.

This story was produced by Kaiser Health News, which publishes California Healthline, a service of the California Health Care Foundation.