Newborn Screening and Genetics

September is National Newborn Screening Month

By: Elizabeth Jones, MPH, Newborn Screening and Genetics Specialist

Every year, more than 6,000 newborns are identified with a genetic or metabolic disorder through newborn screening in the US. Newborn screening is an important life saving public health program that has been in existence for nearly fifty years. The program has been successful in picking up children with rare, potentially life-threatening or harmful conditions, who might otherwise appear healthy.

After reading a recent Nature article, “A Spot of Trouble,” I became concerned that it highlighted newborn screening in a less than positive light. Although some of its successes are discussed, this reputable journal emphasizes the viewpoint of a privacy advocate who opposes mandated screening and touts that the “government has your DNA.” In my view, this advocate is concerned with privacy and parental rights at the expense of children’s health and quality of life. In the article, she states, “Yes, the government has to follow the law, but nobody’s in there watching. So the best way to make sure that it never happens is to simply not get screened.” Central to her campaign is an opt-in policy for newborn screening.

Currently, state newborn screening programs have an opt-out policy, meaning that all newborns will be screened unless a parent refuses due to religious or other reasons. Newborn screening programs are generally opposed to opt-in policies for several reasons. First and foremost, opt-in policies lead to lower participation in newborn screening. Parents will forego screening due to a lack of knowledge or trust, leading to a loss of babies’ lives. Moreover, opt-in policies result in additional costs, resources, and staff, which, quite frankly, states cannot afford in today’s economic climate.

Decades of progress in the field of newborn screening should not be compromised by conspiracy theories and a lack of knowledge. So what is newborn screening NOT? Newborn screening is NOT an attempt to build a eugenics movement as the privacy advocate in the article suggests. Robert Guthrie, who devised the PKU bacterial inhibition assay, would be rolling in his grave if he realized that the public health issue on which he had worked so diligently to reduce mental retardation was now being equated with a government take-over of our genetic information.

With September as National Newborn Screening Awareness Month, we should embrace the public health impact of newborn screening, and particularly the work that is performed every day by our state public health laboratories. Although the conditions screened vary by state, 30 are now recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Thanks to expanded screening, an estimated 10,000 newborns will now be identified with a genetic or metabolic condition each year in the US.

Laboratorians, follow-up personnel and other health care professionals in newborn screening work tirelessly to ensure that all babies receive an adequate newborn screen and appropriate follow up and treatment if necessary. Let’s not take them for granted. Instead, let’s redouble our efforts to explain the benefits of newborn screening to parents and other members of the public. Creating unnecessary fear helps no one.

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