Newborn screening involves testing babies for genetic, metabolic and other diseases. There are inconsistencies between states in diseases screened and methods used. Electronic health records and health information exchanges could help address problems like delayed results, lack of follow up, and test results not reaching providers. HIEs could improve newborn screening by better tracking patients, ensuring all babies are screened and results reported, and allowing quicker treatment through prompt electronic reporting. However, barriers to implementing effective national HIEs include lack of standard coding and differences in screening practices between states.

1. How Health Information Exchanges Can Improve Newborn
Screening
Mariah Dedrick and Daniel Fritz
The University of Texas at Austin Health Information Technology Summer Certificate Program
Abstract USA Newborn Screening by State Barriers to a National HIE Conclusion
Newborn screening is important in the early detection of
Newborn screening has been an important part of children's
life-altering diseases. Most states require the testing of all .
health for around fifty years. However, there is plenty of
newborns for at least 29 diseases. There are many
room for improvement. With the push from the ARRA, CDC,
problems with the current newborn screening process that
APHL, AHIC, and Region 4, America has begun to address
can result in delayed laboratory results, lack of follow-up
the barriers of implementing state-run and nationally-run
with patients, and results that never reach parents and Dot = that screening for the condition is universally required by Law or Rule and fully implemented HIEs. These programs will allow for the care of newborns to
providers. B = offered to select populations, or by request
D = likely to be detected (and reported) as a by-product of MRM screening (MS/MS) targeted by Law or Rule be coordinated between providers.
National Newborn Screening and Genetics Resource Center 2010
Electronic health records (EHRs) and health information
We recommend that the federal government truly promote
exchanges (HIEs) can help mitigate many of these 
There is no consistency between states regarding interoperability by taking control of the standards of
problems. Electronic laboratory orders and results sent diagnostic coding, diseases screened for, or laboratory procedures, coding, and the diseases tested across all fifty
back to physicians can allow for earlier notification of methodologies. states. Beyond this, we would recommend that the national
positive results, leading to earlier treatment of diseases. http://www.savebabies.org/
HIE keep track of patients, do not punish illegal aliens for
Patient tracking can help identify newborns who were not 
The infrastructure to connect all of the laboratories,
Of all the States, Texas and Arizona require the fewest participating, give standard guidelines for every disease,
screened, who need to be retested, or who changed hospitals, and providers does not currently exist.
newborn screening tests. These states test for 29 diseases. provide standard education material, and ensure that
physician or location. If HIEs are interfaced with EHRs,
Mississippi and South Dakota are among the states that patients are informed of positive or inconclusive results as
patients can be more easily monitored throughout their 
Coding standards differ between providers, regions, and
require the most tests: 57 and 55, respectively. soon as possible. If all these changes occur, newborn
lives, allowing for better treatment and care. states. screening programs will be more reliable, accurate, and
usable.
Some progress has been made to implement HIEs in every Problems with Newborn Screening 
It is difficult to find funding for HIEs.
state. Barriers to this implementation include a current lack References
of coding standards, inconsistent diseases being screened
for, different methods for screening for diseases, and a lack Blumenthal D and Tavenner M (2010). The “Meaningful Use” Regulation for
Electronic Health Records. NEJM July 13.
of infrastructure. These are being remedied in part by the Programs
CDC: Newborn Screening Quality Assurance Program. Available at:
American Reinvestment and Recovery Act (ARRA), the http://www.cdc.gov/labstandards/nsqap.html. Accessed July 26, 2010.
American Health Information Community (AHIC), the
Downing GJ, Zuckerman AE, Coon C, Lloyd-Puryear MA (2010) Enhancing
Centers for Disease Control (CDC), the Association of the Quality and Efficiency of Newborn Screening Programs Through
Public Health Laboratories (APHL), and Region 4. the Use of Health Information Technology. Semin. Perinatol. 34: 156-
162.
Downs SM, van Dyck PC, Rinaldo P, McDonald C, Howell RR, Zuckerman A,
Newborn Screening Region 4 Genetics Collaborative 2008 . Downing G (2010) Improving newborn screening laboratory test
ordering and result reporting using health information exchange.
JAMIA 17: 13-18.

There is currently no way for physicians to keep track of
which newborns have been screened. Medline Plus, National Library of Medicine and the National Institute of Health: Hearing loss –
Infants. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/007322.htm.
Accessed July 26, 2010

Inconclusive laboratory results often are not followed up
National Newborn Screening and Genetics Resource Center (2010) National Newborn
http://www.davinfamily.net/classroom/newbornscr.html
quickly. Screening Status Report.
http://genes-r-us.uthscsa.edu/resources/
genetics/StatePages/genetic_region_map.htm
Region 4 Genetics Collaborative, MS/MS Data Project, Region 4 Priority 1
http://www.davinfamily.net/classroom/newbornscr.html

Only 50% of infants get the necessary second hearing test NBS by MS/MS Grant Narrative 2008. Available at: http://www.region4genetics.org/
region4/_Docs/priority1grantnarrative.pdf. Accessed July 24, 2010.

The two major newborn screening tests are hearing tests to diagnose hearing problems. 
ARRA is promoting interoperability through an incentive
and tests for genetic, metabolic, and viral diseases. and penalty program for the adoption of EHRs. EHRs are US Department of Health and Human Services: Office of the National
Coordinator for Health Information Technology, Newborn Screening

Some parents do not know who their baby's primary care necessary to order tests electronically, receive results AHIC Detailed Use Case December 31, 2008. Available at:

Blood specimens are collected by pricking the baby’s heel physician will be at the time of birth. This makes it difficult electronically, and to have up-to-date guidelines and http://healthit.hhs.gov/portal/server.pt/gateway/PTARGS_0-
10731_848123-0_0-18/NBSDetailedUseCase.pdf. Accessed July 20,
and collecting blood spots on a Guthrie card. or impossible to identify newborns with positive, abnormal, education material. 2010.
Pictures at the top: http://www.health.state.mn.us/newbornscreening/index.html
borderline, or inconclusive results.

Hearing tests are carried out at the hospital using one of 
AHIC makes recommendations to the government about Acknowledgments
two methods: otoacoustic emissions or auditory brain stem

Some patients, such as illegal immigrants, do not share standards for codes, privacy and security, and Ms. Patina Zarcone, Association of Public Health Laboratories,
response. their correct information. interoperability. Dr. Alan Zickerman,Georgetown University Hospital, Mrs.
Anitha Abraham, and Dr. Leanne Field

Newborn screening involves education, screening, follow- How Health Information Exchanges Can Help 
The CDC in association with the APHL runs the Newborn
up, diagnosis, and management. 
HIEs can help to keep better track of patients, ensure that Screening Quality Assurance Program to help maintain
all infants are screened, and that results get back to and enhance the quality of test results. Contact Information

Babies who are positive for certain diseases require short- physicians and parents. Mariah Dedrick Daniel Fritz
term treatment and long-term health management. 
Region 4 is leading the way with 24 other states by mfdedrick@gmail.com dfritz@mail.utexas.edu

Prompt reporting of data can lead to quicker therapy, creating standards through grants from the government.
Communication among public health officials, medical They are collecting data, making laboratory testing 281-796-3327 979-373-8815

which can save lives.
specialists, the hospital, laboratories, the primary care standards, defining cut-offs for the tests, and providing
physician, and parents is necessary for successful 
Educational materials for providers and parents can be training programs for people all around the country.
diagnosis and treatment of newborns. standardized and updated easily.

Information would be more portable between states.
TEMPLATE DESIGN © 2008
www.PosterPresentations.com