Next Steps Following Screening
Rebecca Sponberg, NP, of the Children’s Hospital of Orange County, UC Irvine School of Medicine, California, is part of a broader multidisciplinary team that interfaces with parents whose newborns have screened positive for a genetic disorder. The team also includes a biochemical geneticist, a pediatric neurologist, a pediatric endocrinologist, a genetic counselor, and a social worker.
Different states and locations have different procedures for receiving test results, said Dr. Chung. In some, pediatricians are the ones who receive the results, and they are tasked with the responsibility of making sure the children can start getting appropriate care. In particular, these pediatricians are associated with centers of excellence that specialize in working with families around these conditions. Other facilities have multidisciplinary teams.
Ms. Rebecca Sponberg
Ms. Sponberg gave an example of how the process unfolded with X-linked adrenoleukodystrophy, a rare genetic disorder that affects the white matter of the nervous system and the adrenal cortex.10 “This is the most common peroxisomal disorder, affecting one in 20,000 males,” she said. “There are several different forms of the disorder, but males are most at risk for having the cerebral form, which can lead to neurological regression and hasten death. But the regression does not appear until 4 to 12 years of age.”
A baby who screens positive on the initial newborn screening has repeat testing; and if it’s confirmed, the family meets the entire team to help them understand what the disorder is, what to expect, and how it’s monitored and managed. “Children have to be followed closely with a brain MRI every 6 months to detect brain abnormalities quickly,” Ms. Sponberg explained “And we do regular bloodwork to look for adrenocortical insufficiency.”
A child who shows concerning changes on the MRI or abnormal blood test findings is immediately seen by the relevant specialist. “So far, our center has had one patient who had MRI changes consistent with the cerebral form of the disease and the patient was immediately able to receive a bone marrow transplant,” she reported. “We don’t think this child’s condition would have been picked up so quickly or treatment initiated so rapidly if we hadn’t known about it through newborn screening.”
Educating and Involving Families
Part of the role of clinicians is to provide education regarding newborn screening to families, according to Ms. Sponberg. “In my role, I have to call parents to tell them their child screened positive for a genetic condition and that we need to proceed with confirmatory testing,” she said. “We let them know if there’s a high concern that this might be a true positive for the condition, and we offer them information so they know what to expect.”
Unfortunately, Ms. Sponberg said, in the absence of education, some families are skeptical. “When I call families directly, some think it’s a scam and it can be hard to earn their trust. We need to do a better job educating families, especially our pregnant individuals, that testing will occur and if anything is abnormal, they will receive a call.”
References
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