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 2013, replacing the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.
The neuromuscular disease Pompe Disease (also referred to as glycogen storage disease type II or acid maltase deficiency) has been recommended for inclusion on the recommendation list by the Advisory Committee. Inclusion on this list is currently in progress. Reasons cited for inclusion focus upon significant benefits for early identification of Pompe disease, including earlier diagnosis and treatment and enabling further research on the disease.
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 for newborn screening for DMD to be included in the uniform panel recommendations in 2013, and inclusion of DMD remains under consideration. 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 remains under debate. Proponents argue that early diagnosis may allow for inclusion in experimental treatment (with parental consent) at an earlier age. For certain diseases, such as type 1 SMA, 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. Early knowledge of disease may affect parenting, leading to feelings of detachment or sadness. 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.”
The Newborn Screening Saves Lives Reauthorization Act (H.R. 1281/S. 1417) was proposed in 2013 in the U.S. Senate and Congress. Passed by the House in 2013 and Senate in 2014, and signed into law by President Obama in December, 2014, this Act reauthorizes federal programs related to newborn screening.
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, (n.d.). Retrieved from http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/index.html on 12/23/14.
March of Dimes website, (2014). Statement...On President Obama Signing The Newborn Screening Saves Lives Reauthorization Act Into Law. Retrieved from http://news.yahoo.com/statement-dr-jennifer-l-howse-president-march-dimes-230700575.html;_ylt=A0LEVixUWJRUqJIAl50PxQt on 12/23/14.
MDA website, (2014). MDA Community Helps Pass Newborn Screening Saves Lives Reauthorization Act. Retrieved from http://mda.org/media/press-releases/mda-community-helps-pass-newborn-screening-saves-lives-reauthorization-act on 12/19/14.
MDA website,( n.d.). Newborn Screening Recommended for Pompe Disease. Retrieved http://mda.org/quest/newborn-screening-recommended-pompe-disease on 12/23/14.
MDA website,( n.d.). Pompe Disease, DMD: Newborn Screening Proposed. Retrieved from http://mda.org/newborn-screening/pompe-disease-dmd-newborn-screening-proposed on 12/23/14.
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 12/23/14.
Secretary’s Response RE Committee’s Recommendation to add Pompe to the RUSP, (2013). Letter available at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/index.html . Downloaded on 12/23/14.
Spinal Muscle Atrophy Letter from Committee, (n.d.). Letter available at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/nominatecondition/workgroup.html . Downloaded on 12/23/14.
The Addition of Pompe Disease to the [RUSP], (2013). Letter available at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/index.html . Downloaded on 12/23/14.
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 12/24/14.