Michigan is the latest state to consider mandating a test for newborns that could lead to unnecessary and high-risk treatment.
In November, Michigan state Rep. Samantha Steckloff (D-Farmington Hills) introduced a bill that would expand newborn disease screening for Krabbe disease, a rare but devastating inherited genetic disorder that destroys the protective coating of nerve cells in the brain and nervous system. If undiagnosed and untreated, babies often do not survive past the age of two.
States mandate various infant screening tests to allow parents to take advantage of early, potentially life-saving treatment options for their newborns. The screening test for Krabbe disease is controversial because the magnitude of false-positive results is unknown, and prevention requires aggressive measures.
“The disease is rare but devastating, the screening program is costly, the natural history of the disease is not well understood, and the only available treatment—hematopoietic stem cell transplantation—is expensive and risky,” wrote John D. Lantos in a 2014 paper published on the National Institutes of Health’s public access site.
Where States Stand
New York was the first state to incorporate screening for Krabbe disease in 2006. Currently, 10 states mandate the test; five states have passed legislation but are not currently screening; 29 states require a parent “opt-in”, and six are making active efforts to add the test to their Newborn Screening Panel (NBS), states KrabbeConnect, a collaborative platform for researchers and families, on its website.
However, of the first two million infants screened for Krabbe, only five were identified as early infant Krabbe disease (EIKD), while 51 were determined to be at risk for late-onset disease (LOKD), states an article published in the September-October 2021 issue of Science Direct.
“In retrospect, the intensive follow-up protocol for infants at risk for LOKD was burdensome to most families and the health care system, and too aggressive to be practical,” said the authors. “This includes the high frequency of invasive testing (e.g. lumbar puncture, imaging with anesthesia, nerve conduction studies), and large number of tests recommended for children who in retrospect may not have been high risk.”
The authors said there is an “urgent need” for updating guidelines on how to classify those at risk and on appropriate follow-up.
The Lantos paper stated Krabbe was thought to impact one in 100,000 newborns in the United States, but once widespread screening began in New York, the rate changed to five in 100,000 infants.
‘Informed Consent’ Not Required
The Michigan bill, co-sponsored by 11 Democrats in the House, specifically states, “informed consent requirements…do not apply” to the required tests. This is a provision that exists in the current statute that is being amended to include Krabbe and there is no language explaining why.
It is not acceptable because patients have a right to bodily integrity, informed consent, and self-determination in accordance with their moral conscience, says pediatrician Michelle Cretella, M.D.
“In pediatrics, this includes respecting the right of parents to choose or refuse medical interventions on behalf of their minor children,” said Cretella.
“No physician can guarantee that any intervention, including screening tests and vaccination, will not cause harm in any given patient. Furthermore, it is a normative moral principle that no human being, especially not a child, may be used to an end.”
Parents Need ‘Informed Choice’
The Center for Disease Control’s Advisory Committee on Immunization Practices (ACIP) has not recommended that states include screening for Krabbe disease in the tests given newborns, although there are a number of tests it does recommend.
Cretella’s view is spot-on, even from another perspective, says Marilyn Singleton, M.D., J.D., a board-certified anesthesiologist and past president of the Association of American Physicians and Surgeons.
“It is worrisome that the federal government chooses what disorders will be covered in its Recommended Uniform Screening Panel,” said Singleton.
“As far as these genetic diseases are concerned, it might be a better ‘upstream’ choice to do genetic testing on the parents prior to pregnancy,” said Singleton. The parents can then make an informed choice regarding child-bearing and take control of their child’s future without involvement of the government.”
Ashley Bateman (bateman.ae@googlemail.com) writes from Virginia.