Photo: Clemson University
Newborn screening (NBS) is a public health initiative that seeks the early detection and diagnosis of certain genetic, metabolic, and infectious disorders. With early detection comes rapid intervention that can sometimes mean the difference between life and death or living with a life-long disability.
NBS began in the 1960’s with a screening test for phenylketonuria (PKU). Using a blood sample collected from the newborn’s heal, the test scanned for up to thirty metabolic and genetic diseases—the most common of which were PKU, congenital hypothyroidism, galactosemia, and sickle cell disease.
With the development of tandem mass spectrometry in the early 1990s the number of detectable diseases quickly grew, especially in the categories of fatty acid oxidation disorders and organic acidoses. Today over 100 disorders can be detected, yet not all are included in newborn screening—which is determined on a state by state basis.
You might wonder why I am interested in newborn screening. My daughter Melissa was born in 1988 before expanded screening was available which would have detected her case of Propionic Acidemia which has an occurrence of 1:75,000 live births. As a result she did not receive early intervention. At only four days of age, she was in metabolic crisis, in a coma, and undergoing emergency hemodialysis which saved her life. And while her life was saved, the neurological damage associated with elevated levels of ammonia caused irreversible brain damage. Now she will live her life battling this incurable disease while suffering the additional disability of cognitive impairment.
Our involvement with NBS began when my wife Kathy, then the Executive Director of the Organic Acidemia Association, was asked to participate as a member of the State of Minnesota Newborn Screening Advisory Committee which was overseeing a pilot project with the Mayo Clinic. Following the successful pilot, a bill was introduced that would expand the disorders included in newborn screening tests. Kathy testified before the legislature in support of the bill, which was passed in 2003. The state’s newborn screening panel now includes testing for 54 disorders–which includes our Melissa’s Propionic Acidemia.
In spite of the proven benefits of early detection and intervention, newborn screening is not without controversy. The issue is data privacy. The DNA of virtually every newborn in the United States is collected and tested soon after birth. The question is what is done with the blood collected once testing is completed. Newborn screening information is classified as private under state and federal law. The Minnesota Department of Health Newborn Screening Program firmly adheres to state and federal laws designed to protect individual privacy and health-related information. The only people who have access to a child’s newborn screening information are:
- newborn screening program staff who have completed data privacy training;
- the patient/parents/legal guardian(s); and
- the healthcare provider(s) caring for that child.
For anyone else to obtain an individual’s identifiable information, the patient or their parent or legal guardian must sign a consent form allowing the release of such information. In my opinion, these safeguards are sufficient to protect our children’s privacy while protecting their life with early testing and intervention.