By Heather Brown, MS, and Frances Verter, PhD
Adapted from Parent’s Guide to Cord Blood, September 2020
September was National Newborn Screening Awareness Month, a time to help raise awareness of newborn screening among parents, healthcare professionals, and the public. Newborn screening has been one of the biggest public health successes since it was first introduced in the 1960s.1-3
In fact, over the past 55 years, it has been credited with saving or improving the lives of thousands of children with serious but treatable disorders such as phenylketonuria (inborn error of metabolism), sickle cell anemia, and cystic fibrosis.
Newborn screening is not just a matter of testing for conditions, “…rather, it is a complex, integrated system that begins with timely testing, scrupulous follow up of patients, tracking of outcomes, quality improvement of all aspects of the process, and education of providers, staff, and parents.”3
Newborn Screening Expands in the U.S.
In 2008, the United States Congress passed the “Newborn Screening Saves Lives Act,” which established guidelines for newborn screening.4,5 As part of this law, the Recommended Uniform Screening Panel, or RUSP, was created.6 The RUSP is a list of 35 conditions that are approved by the Department of Health and Human Services as a minimum newborn screening panel. However, the RUSP is not mandated. It is only a guideline for states to follow when developing their own newborn screening programs.
One of the major health issues facing new parents in the US, whether or not they are aware of it, is that newborn screening varies dramatically from state to state. Because your baby will receive a different screening panel depending on where you live when they’re born, we recommend an additional screening like ReadyGen to easily cover all your bases.
Expansion of newborn screening programs used to be driven by new testing technology, but now is increasingly driven by the development of novel therapeutics and political advocacy.3 In order to add more medical conditions to state newborn screening panels, families and advocacy groups must lobby state legislatures. The process of advocating for a bill to become a law can take more than one legislative session and requires perseverance, expert testimony, and communication with key lawmakers. It may take years to add one condition to one state newborn screening panel.
The Fight for Krabbe
A case in point: The charity Hunter’s Hope is working to add a test for Krabbe Leukodystrophy, an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system, to newborn screening panels.7 Hunter was the son of Jim Kelly, pro football Hall of Fame member and former Buffalo Bills quarterback, and his wife Jill. Dr. Joanne Kurtzberg of Duke University has argued in support of Krabbe screenings because her research team has shown that Krabbe can be cured by a cord blood transplant — if it is administered during the first month of life.8,9 The first state to begin screening for Krabbe was New York in 2006. Other states have followed, but progress has been slow due to debates about the accuracy of the screening and the risks of cord blood transplantation.10
What About Additional Newborn Screening?
Parents who want to make sure that their new baby is screened for all actionable genetic conditions can buy supplemental newborn screening. This testing can be done either when their child is still in the hospital or shortly after they come home. With current genetic testing technology, it is possible to screen for hundreds of conditions that are considered severe but treatable.11 Cost-effective options include our ReadyGen newborn screening, which you can read more about below.
Some family newborn stem cell banks are partnering with genetic testing companies to offer expanded newborn screening to their client families. There is a natural synergy between newborn stem cell preservation and newborn screening — both are intended to protect a baby’s health.
The existence of required newborn screening in the United States gives many parents and medical professionals the sense that this base has been covered. However, it has also sparked debates over whether these tests provide parents with a false sense of security — and whether states should be taking full advantage of the tests that are possible with current technology.3,11
CBR’s Newborn Screening Option
As expanded newborn screening becomes more visible, we expect that more parents will take advantage of this opportunity. Families that detect an actionable medical condition will be empowered to get medical care sooner and make health decisions that improve the lives of their child and family.
If you’re interested in this option, CBR offers the ReadyGen newborn screening. It detects over 200 conditions through advanced DNA-sequencing technology and requires only a cheek swab, so it’s noninvasive and easy to use. Plus, all conditions can be managed with diet, medication, or other therapies (including 20+ addressable with newborn stem cells). Take a look at ReadyGen here.
About the Authors Heather Brown holds a B.A. and M.S. in Health and Medical Sciences from the University of California at Berkeley. She has over twenty years of clinical and business experience in the healthcare and biotech industries. She is a board-certified genetic counselor with extensive experience in prenatal, pediatric, and cancer genetics, with a particular emphasis in genetic screening program delivery. After several positions in direct patient care, Ms. Brown transitioned to industry roles in genetics, cell therapy and reproductive related healthcare companies including Cord Blood Registry, a Generate Life Sciences Company. Frances Verter of Parent’s Guide to Cord Blood helped with the parts of this article that look at variations in newborn screening within the United States or around the world.
1. Baby’s First Test. Conditions Screened by State. web page Accessed 2020-06-01 2. March of Dimes. Newborn Screening Tests for your Baby. web page Accessed 2020-06-01 3. McCandless SE, Wright EJ. Mandatory Newborn Screening in the United States: History, Current Status and Existential Challenge. Birth Defects Research. 2020; 112(4):350-366. 4. GovTrack. Newborn Screening Saves Lives Act of 2007. (S.1858) Legislation Accessed 2020-06-01 5. United States Senate. Newborn Screening Saves Lives Reauthorization Act of 2019. (S.2158) Legislation Accessed 2020-06-01 6. Health Resources and Services Administration. Recommended Uniform Screening Panel. web page. Last updated 2018-07 7. Hunter’s Hope. Newborn Screening. web page Accessed 2020-06-01 8. Prasad VK, Mendizabal A, Parikh SH, Szabolcs P, Driscoll TA, Page K, Lakshminarayanan S, Allison J, Wood S, Semmel D, Escolar ML, Martin PL, Carter S, Kurtzberg J. Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood 2008; 112(7):2979-2989 9. Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BA, Hopkins PV, Orsini JJ. Consensus Guidelines for Newborn Screening, Diagnosis and Treatment of Infantile Krabbe Disease. Orphanet J Rare Disease 2018; 13(1):30. 10. Goodman B, and Miller A. Would You Want Your Baby Tested For This Disease? WebMD 2017-03-09 11. Millington DS. The Role of Technology in Newborn Screening. North Carolina Med. J 2019; 80(1):49-53.