In the U.S. and many other countries, newborn babies are screened for a number of conditions before leaving the hospital. While the list of diseases screened for differs among U.S. states, currently the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) recommends that newborns uniformly be tested for 31 core and 26 secondary disorders.
Part of the U.S. Department of Health and Human Services, The DACHDNC exists to reduce morbidity (illness) and mortality (death) among infants and children, particularly those who are at risk for, or those who have, an inherited disorder. This committee was formed in April, 2013 and replaces the Secretary’s Advisory Committee on heritable Disorders in Newborns and Children.
Recently, the neuromuscular disease Pompe Disease, was considered for inclusion in the recommended screening panel (on January 31 and February 1, 2013). The committee decided not to recommend that Pompe Disease be added to the screening panel at the current time. Reasons cited included the need for better screening testing and methods for standardized diagnosis, as well as the need for increased research into cost effectiveness and the costs and benefits of diagnosing late-onset Pompe Disease at infancy. The letter did note the importance of considering this disease and the possibility of adding the disease to the panel in the future.
Recent research into early detection for Duchenne muscular dystrophy (DMD) indicate that newborn screening for DMD can be cost effective. Implementation of this two-tiered approach waits for regulatory approval. A proposal was made recently for newborn screening for DMD to be included in the uniform panel recommendations (on January 31 and February 1, 2013), but the results of that proposal were not yet available at the time this article was written.
In 2008, a proposal to review the evidence for newborn screening for Spinal Muscular Atrophy (SMA) was presented. At that time, the proposal was declined until additional research evidence was collected.
Currently, the usefulness of newborn screening for neuromuscular diseases that cannot yet be treated is under debate. On the one hand, early diagnosis may allow for inclusion in experimental treatment (with parental consent) at an earlier age. For certain diseases, such as type 1 spinal muscular atrophy, treatment may be most effective when it begins before the onset of symptoms. Early diagnosis may allow parents to have more time to adjust to the diagnosis, make important decisions, and to start therapeutic exercise plans and chiropractic care earlier.
Others have raised concerns about diagnosing young children before the onset of symptoms, however. Early knowledge of disease may affect parenting, leading to feelings of detachment or sadness in parents. Differential treatment from an early age may affect child development, for example leading children diagnosed as newborns to be labeled and treated by parents and others as “sick.”
As diagnosis and treatment protocols become more advanced, newborn screening will likely become increasingly possible for neuromuscular disease. As these advances are made, ethical and practical decisions regarding newborn screening for neuromuscular disease will need to be made by the DACHDNC, hospital boards, medical professionals, researchers, and parents.
DACHDNC website, (2013). Retrieved from http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/index.html on 6/20/13.
MDA website, ( n.d.). Newborn Screening Recommended for Pompe Disease. Retrieved http://mda.org/quest/newborn-screening-recommended-pompe-disease on 6/20/13.
MDA website, (n.d.). Screening Newborns for Neuromuscular Diseases Has Pros and Cons. Retrieved from http://mda.org/newborn-screening/newborn-screening-neuromuscular-diseases on 6/20/13.
Pompe Disease and Spinal Muscle Atrophy Letters from Committee, (n.d.). Available on the DACHDNC website at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/workgroup.html as a downloadable pdf file. Downloaded on 6/20/13.
Wahl, M., (2012). Efficient System Developed for DMD Newborn Screening. Quest. Retrieved from http://quest.mda.org/news/efficient-system-developed-dmd-newborn-screening on 6/20/13.
Wahl, M., (2013). Pompe Disease, DMD: Newborn Screening Proposed. Quest. Retrieved from http://quest.mda.org/news/pompe-disease-dmd-newborn-screening-proposed on 6/20/13.