**Newborn Screening and Electronic Health Records**

**Goals for the PHC Workgroup:**

Identify, develop, and encourage adoption of appropriate standards by
instrument manufacturers, public health laboratories, and EHR vendors,
to facilitate interoperable exchange of newborn screening test results.
This could be achieved through the development and implementation of
recommendations to the American Health Information Community (AHIC).
This would ensure timely communication between state public health
laboratories and newborn nurseries doing screening and immediate
follow-up, and the primary care professionals and specialists who are
involved in the diagnosis, treatment and management of the infants
identified.

**Background:**

As one of the more common applications of genetic tests in public
health, newborn screening for congenital disorders and physiologic
function is performed at birth on nearly every newborn accounting for
more than 4 million infants each year being tested. Approximately 8,000
infant are identified each year through these screening programs.
Finding these conditions in the newborn, before symptoms appear, has
been shown not only to save lives, but also to save money for the
healthcare system. Using a dried blood spot or a physiologic test (for
congenital hearing loss), various conditions are screened using a
variety of testing platforms.

The newborn screening system includes the screening test, diagnostic
confirmation, and the management, treatment, and follow-up of those who
are confirmed to have a disease with considerable educational content to
support the program at several levels. Informatics issues arise at
several steps of the program. At the interface between the screening
program and the primary care physician is the need for the primary care
physician to have available the results of screening, including both
positive and negative screens, when they see a baby for the first time.
This step requires standardized languages to describe the screening test
result and accessible information that bridges the public health program
to the private sector providers. The next step is the diagnostic
confirmation of the screening result. This step also requires
standardized languages, though for a much broader range of analytes and
tests that can be used to confirm diagnoses and for the clinical
parameters that contribute to establishing the diagnosis. These may
include enzymology, mutation testing or other analytical methodologies.
Again, specialist private sector providers are commonly involved in this
testing and must communicate this information to the Public Health
program. Ultimately, the infant's primary care provider requires this
information as well. After these short term parts of the program are
completed, there is life-long treatment, management and follow-up of the
infant, with associated data collection, to understand their outcome to
inform the NBS program of the qualitative functioning of their program.

Newborn screening illustrates the critical need for data standards in
order to advance our understanding of genetic and other congenital
conditions on a population basis. Issues such as standardization of case
definitions; recognizing the underlying connection or disconnection
between genetic testing and diagnosis, tracking the newborn after
collection of the sample for testing and discharge from the birthing
facility to the newborn's primary care clinician to ensure proper
follow-up of abnormal test results that often occurs through
sub-specialists. The wide variability between states in the testing
platforms they use for genetic testing depends on standard
representations of newborn screening data that can be shared across
programs.

The criteria for defining a positive genetic screening are highly
variable from one genetic testing program to another. This can increase
false positive screens and false negative screens that have profound
effects on the effectiveness and cost of a genetic testing program. It
is critical to have screening test laboratories report in a standard
vocabulary. Likewise, the conditions detected tend to be recently
defined and rare. Infants whose genetic test results are out of range
for detectable conditions must undergo confirmatory testing. Because
conditions are rare, natural history studies involving as many
individuals with the disease of interest must be conducted to understand
the phenotypic variation and prognostic implications of abnormal
screens. Therapeutic options for children with these rare conditions can
only be evaluated by studies that pool subjects into cohorts at a
national level. Definitions of these cohorts must be based on analytical
values, not inconsistently defined criteria.

**Related Issues for Discussion:**

The issues of developing metrics for reporting of results, developing
the appropriate standards for raw results (LOINC), standardizing
diagnostic codes (i.e. SNOMED, OMIM, Medcin), adoption of these
standards by the vendors who supply the diagnostic equipment, and
developing standard guidelines for clinical decision support, all need
to be addressed to ensure appropriate communication of genetic testing
results from the public health laboratory to the patient and the
clinician. By convening dialogues to enhance understanding of necessary
steps to enable electronic exchange of newborn screening test
information, the workgroup could facilitate the building of an effective
nationwide data repository of newborn screening test and treatment
information. The workgroup could look to extending previous use cases
that have been developed in related areas, including the Laboratory-EHR
Use Case, as well as the Biosurveillance Use Case to address the
specific needs for reporting newborn screening test results. The
workgroup could also explore options for integrating existing clinical
decision support tools for newborn screening test results into
electronic health records, including information on the clinical
validity of these test results.

**Stakeholders and Contacts:**

*HHS:*

NICHD: Rod Howell, Gilian Engleson

NHGRI: Greg Feero

NLM: Betsy Humphreys, Clem McDonald

HRSA: Michele Lloyd-Puryear, Marie Mann

CDC: Ira Lubin, Joe Boone, John Eichwald

*External:*

ACMG: Mike Watson, Judith Benkendorf

AAFP: Doug Henley, Steve Waldron

State Alliance for e-Health: Alan Zuckerman

AAP: <http://www.aap.org/>

Association of Public Health Labs:
<http://www.aphl.org/Pages/default.aspx>

Public Health Informatics Institute: <http://www.phii.org/>

National Governors Association: <http://www.nga.org/portal/site/nga>

National Council of State Legislatures: <http://www.ncsl.org/>

National Newborn Screening and Genetics Resource Center: Brad Therrell
<http://genes-r-us.uthscsa.edu/>