**1.0 Introduction and Scope**

Various types of newborn screening are performed under state rules or
regulations in the first days of life for over four million infants each
year in the United States. This is a public health measure to detect and
prevent or reduce the consequences of serious, often life-threatening,
insidious, and rare congenital disorders of metabolism, hemoglobin,
hearing, and other vital body functions. The newborn screening system is
divided into six component parts: screening, follow-up and diagnosis,
management and treatment, long term follow-up, evaluation/quality
assurance, and education. The newborn screening process begins with
initial screening shortly after the birth of the infant, but does not
establish a diagnosis until confirmatory testing is completed. The chain
of information flow involves a complex interaction among public and
private laboratories, hospitals and primary care offices, subspecialty
referral centers, state registries, and others. The focus of this Use
Case will be on the information technology requirements and the
opportunities for using interoperability to improve the timeliness and
completeness of the newborn screening process. There are four key roles
that health information technology (HIT) currently can play in newborn
dried blood spot screening (NDBS) and early hearing detection and
intervention (EHDI) programs.

First, evidence should be reported to the primary care provider (medical
home) that the screens have been done, are within range (or normal), and
further work-up is not needed. In the event of an out of range (or
abnormal) screening result, reporting the results of the initial
screening and including the qualitative and quantitative newborn
screening results in the child's electronic or paper medical records is
a critical task that also includes making those results available to
appropriate public health and health care providers. Determination of
appropriate providers will vary depending upon the type of screening,
and may include emergency departments if an infant is seen during the
neonatal period, or may include subsequent follow-up testing or
diagnostic evaluation. It is important to communicate information to the
next provider(s) of care at each transition within the newborn screening
system.

Second, because newborn screening often detects very uncommon conditions
that a primary care provider may see rarely, educational materials and
clinical decision support guidelines and templates for further
evaluation need to be available immediately when out of range (or
abnormal) results are reported. The recommendations and state of medical
knowledge change over time and thus must be documented in the record and
periodically checked for updates in the future.

Third, because the nature of newborn screening is changing and the
expectation that "no news is good news" can no longer be relied on, all
screening tests require "closing the orders loop." Further steps after
the screening test is performed include verification of the newborn
screen, reporting of results, completion of all confirmatory testing or
diagnostic evaluation, referral of all children who require
intervention, and confirmation of treatment and program
evaluation/quality assurance. In the past, very rare and serious
conditions with critical intervention time windows such as neonatal
hypothyroidism (low thyroid hormone production) and phenylketonuria
\[PKU\] (inability to metabolize the amino acid phenylalanine) would
trigger very aggressive telephone and in-person follow-up; hence,
careful long-term tracking of all tests was not a priority. And in
reality, the capacity for that tracking was nonexistent. It is now
recognized that all infants and children should be tracked for both
short and long-term follow-up. Recent experiences with the rise of
maternal PKU emphasize that need for long-term follow-up, as well as
recognizing the need for refining treatments and understanding the
long-term clinical sequellae of the disorders for which infants are
screened.

Fourth, because of the cost, consequences, and transitory but negative
impact on families of false positive tests, as well as the need to guide
future policies and procedures, the research value of newborn screening
results to improve population health and program efficiency creates an
important opportunity to use HIT for continuous quality improvement and
to advance medical knowledge. Part of the education and informed consent
process should be to inform the family that an out of range (or
abnormal) screening result does not necessarily imply adverse
consequences if the diagnosis later is not confirmed. Therefore, the
manner in which newborn screening results are reported must address
research, policy, and program evaluation needs, as well as the impact on
the family.

Classic approaches to newborn screening illustrated by early thyroid
hormone and PKU screening were predicated on a few fundamental
principles:

-   A critical time for intervention that changes outcome such as
    eliminating institutionalization of infants with severe disabilities
    due to failure to treat early

-   Available resources for intervention

-   Available and affordable confirmatory tests to verify the diagnosis
    encouraging very sensitive tests that minimize false negatives and
    allow separating out false positives

-   A population at risk that is appropriate for screening

Current screening focuses on physiologic or metabolic and biochemical
markers, but we are beginning a transition into more classic molecular
genetic approaches to identify specific mutations to refine diagnoses
and guide care and treatment. For example, testing for medium chain acyl
Co-A dehydrogenase deficiency that previously relied on specific analyte
levels is now being supplemented in some states with the detection of
specific mutations that establish subclasses of the disorder that may
respond differently to different forms of treatment. Most state newborn
screening programs utilize a two tiered approach for screening for
Cystic Fibrosis: screening for an elevated enzyme level and for specific
mutations as a more accurate method of screening than prior testing
methods. New approaches to newborn screening are changing the scope of
HIT requirements for the screening, diagnosis, and intervention process.
Use of DNA based testing or other molecular methodologies allows more
precise identification of sub-types and specific diagnoses with both
NDBS and EHDI. Some conditions may not involve immediate need for
intervention or immediate ability to confirm the diagnosis. Clinical
decision strategies may become more complex and benefit from HIT. Future
screening programs may use different screens for different infants.

**1.1 Use Case Description**

This Use Case is organized primarily around the stages of the work-up:

-   Initial Screening

-   Confirmatory Testing or Diagnostic Evaluation and Short Term
    Follow-up

-   Clinical/Social Management (Initial Follow-up)

-   Population Health Management and Long Term Follow-up

It is also necessary to consider variations in workflow based on the
conditions screened:

-   Metabolic Conditions

-   Endocrine Conditions

-   Hemoglobinopathies

-   Hearing Detection

-   Genetic Markers

-   Other Conditions

There are also variations due to the health information technology (HIT)
and health information exchange (HIE) environment:

-   Providers who do not use an electronic health record (EHR)

-   Providers who use an EHR

-   Providers who participate in a local or regional HIE

**1.2 Use Case Scope**

One of the goals of AHIC is to help establish processes that will lead
to common data standards that will facilitate the adoption of uniform
case definitions and clinical detail relevant to decision making efforts
by corresponding healthcare stakeholders. This Use Case was developed to
support the stakeholders associated with various types of newborn
screening and related healthcare and service communities. To support
this, the Newborn Screening Use Case focuses on the collection and
exchange of information between birthing facilities, medical
homes/primary care providers, confirmatory testing and diagnostic
services and subspecialty providers, clinical or early intervention
programs, and public health entities. This process is then described in
five perspectives---birthing facility, testing laboratories, medical
home/primary care provider, diagnostic center/subspecialist, and public
health authority. These perspectives are reflected in four different
scenarios addressing the process of patient care from screening through
clinical or early intervention services, and public health reporting.
While many needs within these different settings overlap, this
distinction was useful in emphasizing some aspects that are particular
to each, in connection with best-care practices. The Use Case is focused
on information flows that can be most significantly improved in the near
term by increased interoperability.

This Use Case assumes the increasing adoption of electronic systems such
as EHRs, Personal Health Records (PHRs), and other local or web-based
solutions supporting consumers, clinicians, and service providers, while
also recognizing the issues and obstacles associated with these
assumptions. This approach helps promote the development of longer-term
efforts.

**2.0 Use Case Stakeholders**

-   Patients and Families

-   Parents

-   Clinicians (Primary Care and Subspecialists)

-   Hospitals (Birth Centers and Emergency Departments)

-   Public Health Agencies

-   Reference Laboratories

-   Health Care Payers

-   Researchers

-   Federal Agencies

-   Public Health Professionals

-   Allied Health Workers

-   Departments of Education (Early Intervention for Cognitive and Motor
    Impairments and Hearing Impairment)

**3.0 Issues and Obstacles**

**Confidentiality, Privacy, Security, and Data Access**

The importance of confidentiality, privacy, and security and control of
data access is growing as the range of conditions tested increases. When
no longer dealing with immediately life-threatening conditions, many of
the CPS concerns are condition specific and will need to be
individualized to the nature of the test and the consequences of an out
of range (or abnormal) result. This Use Case will use policies and
methods developed by others, including the AHIC Confidentiality,
Privacy, and Security Workgroup, the Confidentiality, Privacy, and
Security subgroup of the AHIC Personalized Health Care Workgroup, the
AHIC Population Health and Clinical Care Connections Workgroup, state
Health Information Security and Privacy Collaborative (HISPC), and the
National Committee on Vital and Health Statistics (NCVHS).

*Consumer data confidentiality and privacy*. Access to personal health
information from EHRs and PHRs needs to be accomplished in a
confidential and secure manner that complies with privacy requirements
and respects consumer decisions regarding access to their information.
Policies, implementation mechanisms, and supporting technologies are
needed to accomplish this objective. This may involve sharing data
collected across multiple parties at different time points. Therefore,
this process must include the ability to restrict access to shared data
to those parties for whom such information is permitted at a specific
time and/or event, recognizing that permissions will change. In
addition, the process must address cases where parents or guardians
refuse access to data sharing at any point in the process from birth
through early intervention and beyond. Nevertheless, the process must
also balance reporting mandated (or restricted) by state or federal law
and permitted for public health needs.

In some cases, existing legislation may act as an obstacle to full
implementation of data sharing. Screening requirements differ based upon
the specific type of newborn screening, as well as the jurisdiction in
which the screening occurs. Similar variability exists regarding
reporting requirement to the state/territory health department. Access
to vital statistics and the degree to which data sharing is permitted
even within the same jurisdictional agency may also vary across
screening programs. Similarly, state laws, Health Insurance Portability
and Accountability Act (HIPAA) Privacy and Security regulations, and
Clinical Laboratory Improvement Amendments (CLIA) regulations in some
states may prevent sharing laboratory results with physicians other than
the ordering provider or the public health entity responsible for
program oversight \[public health agencies may subcontract with
follow-up personnel or subspecialty providers for parts of the newborn
screening system activities and share data with these providers\].

*Security and data access*. Personal health information must be
appropriately secured whenever it is stored, transmitted, or disposed of
by any person or entity that has been given authorization to access,
view, use, and/or disclose that information. Health information must
meet security standards in areas such as node authentication, identity
credentials, document integrity, access controls, audit trail,
non-repudiation, and consistent time tracking. Mechanisms are also
needed to allow authorized access to patient information and secure data
transfers based on established authentication procedures. In particular,
where information is to be passed across multiple organizations, these
procedures will require further development and harmonization focusing
on privacy protections. Similar procedures addressing the secondary use
of shared data will also need to be developed. Use of de-identified data
for research and screening program improvement requires oversight of
purpose and protection of privacy.

*Regionalization*. Sharing results across states lines is often required
-- for example when children are born in a state other than the one
where they reside or receive health care or services in a state other
than the one in which they were born or currently reside.

*Data Access and Disclosure Logs*. It will be necessary for different
users (birthing facilities, laboratories, health care providers, service
providers, etc.) to view different components of shared consumer health
information. Consequently, procedures for monitoring and logging such
access must be developed. Accomplishing this across multiple settings
and timeframes may be challenging without standards for access-related
information and for exchanging this information among networks. To
create access and disclosure logs for consumers to review, mechanisms
need to be present which can create, manipulate, and condense full audit
logs that contain information from multiple organizations, geographic
regions, or health information exchanges.

**Interoperability**

The exchange of screening-related information across systems, sites, and
settings of care is constrained today by the lack of agreed upon
standards for sharing of information concerning screening, confirmatory
testing or diagnostic evaluation, and clinical services, including early
intervention. To the extent that such data sharing occurs, it may
involve web-based data entry into remote secure data systems, direct
uploads from medical equipment, faxes, paper, or phone calls.

Integrating external screening and related health information into EHRs
along with locally captured information (e.g., diagnostic or service
data) is a goal that will require standardized terminology and messaging
broker systems. The same information should also be available to
patients and parents in the form of electronic or paper PHRs that will
require standardized terminology to interoperate with data in the EHR.

Possible issues that require further attention include:

-   Health Departments and healthcare facilities require resources to
    implement interfaces with EHRs for electronic reporting of screening
    results and web access to results from providers, including
    emergency departments and others, who may not have EHRs.

-   Feedback loops/processes which appropriately inform the reporting
    entities of their results (at either an individual or aggregate
    level) often do not exist. Network and policy infrastructures to
    enable secure, consistent, appropriate, reliable, and accurate
    electronic data exchange will need to be established.

-   There is a need to include quantitative results to support quality
    assurance and more accurate confirmatory or diagnostic evaluations
    and research requirements that exceed what needs to be reported to
    the primary care physician and parents.

-   Consistent efforts and standards to minimize duplicative reporting
    or errors in patient record linkage are needed because obtaining an
    accurate and complete set of identifiers for a newborn at the time
    of screening may not be accomplished in a reliable manner. Name
    changes are common between the birth hospital and future care
    providers. An infant may have multiple screens with varying results
    from different providers, or repeated audiological evaluations
    throughout the diagnostic process and follow-up period. It is
    important for all providers to see the same complete sets of results
    for each patient.

**Anticipated Changes to Workflow and Decision-Making Practices**

The same standards should be used regardless of whether results are
reported directly to specialists at centralized genetic or other
subspecialty centers who then notify the primary care physician and
parents, or if the confirmatory testing is handled by the primary care
physician, audiologist (for hearing screening), or an allied health
professional. The alternative workflows are to be anticipated and
accommodated. In either case, it is important that the results of
confirmatory testing are reported back to the health department and
cases which are identified need to be reported to disease-specific
registries. The primary care physician and medical home should be aware
of all components of metabolic and hearing evaluation regardless of
where they are performed so that a single provider is responsible for
assuring that all necessary testing has been completed.

**Standardized Terminology for All Screening-Related Information**

Standardized key data elements and terminologies do not exist for all
newborn screening programs. Consequently, further work is required to
develop a more comprehensive agreement on a single vocabulary and data
standard addressing screening, confirmatory or diagnostic evaluations,
treatment, service and follow-up data, as well as adopting a common
minimal granularity across all pertinent information. Also, particular
attention needs to be paid to the multiple forms in which services
(screening, diagnosis, clinical treatment or early intervention) are
provided.

For each form of newborn screening, agreement is needed on the specific
vocabulary to be used to describe the nature and extent of a health
condition, method and technology used in screening or diagnostic
evaluation, type and extent of clinical, treatment or enrollment in
early intervention services, and nature and result of neurological and
genetic testing.

[]{.mark}

**EHR Data**

There are gaps in the design of some EHR systems for fully describing
services and diagnostic information for some types of newborn screening
in the standardized terms needed for interoperability. In some cases,
processes often are not uniformly structured and use non-standardized
nomenclature for some elements. Lack of implemented standards in this
area makes it difficult to support multiple sources of EHR data being
shared and/or merged within a single environment to support all forms of
newborn screening.

**Decision Support**

Use of clinical decision support is hampered by the complexity of
integrating the screening content into the EHR. One goal for managing
screening services information in EHRs is to promote timely and high
quality patient care by using clinical decision support tools that can
support the coordination of services, including screening, confirmatory
or diagnostic evaluation, clinical treatment or early intervention, and
long-term developmental, neurological or genetic follow-up. Service
alerts flagging potential cases based on screening results or the lack
of screening results can streamline service delivery and reduce risk for
death, illness, or other associated morbidity such as future
developmental delay. However alerts that are inaccurate or overly
redundant compromise the value of this support to clinicians and to the
newborn screening system. Clinical decision support tools can also
assist medical homes/primary care providers in identifying diagnostic or
service programs properly equipped for newborn/infant care.

In addition, decision support can have potentially dramatic results in
public health surveillance, however, variations in reporting
requirements and capacity can negatively impact the ability for
detecting possible cases, and fragmented data systems can result in a
significant number of cases being lost to follow-up or lost to
documentation.

[]{.mark}

**4.0 Use Case Perspectives**

The Newborn Screening Use Case incorporates both clinical and public
health foci. The clinical model focuses on the electronic capture of
information about patient screening, confirmatory testing or diagnostic
evaluation, and clinical treatment or other support services such as
educational early intervention services, or dietary services. This
information is obtained by multiple sources, and involves the
communication of that information between the public health agencies,
consumers, laboratories, clinicians (in multiple sites and settings of
care), and other service providers. The public health model focuses on
the exchange of individual and population health information to support
the reporting and management of possible and confirmed public health
cases and adverse events.

The Use Case will describe clinical and public health case reporting
from the viewpoint associated with five perspectives. The perspectives
included in the Use Case are intended to indicate roles and functions,
rather than physical locations.

Each perspective is described below:

**Birthing Facility**

The birthing facility perspective includes hospitals or birthing
centers, as well as home births. Facilities vary in protocols for
screening, medical care facilities and services available, technology
and methodology used, as well as their capacity to collect and report
electronic data. While hearing screening results typically report
results directly to parents, public health authorities, and the medical
home, birthing facilities generally do not report NDBS screening results
to parents, primary care providers, and public health authorities but
rather report to the clinician who ordered the test.

**Testing Laboratories**

Testing laboratories include medical facilities performing dried blood
spot, genetic, or other biochemical analyses. Laboratories may receive
specimens from birthing facilities, medical homes/primary care
providers, subspecialty providers, midwives, or public health agencies.
They may report results to primary care providers, subspecialty
providers and public health agencies, generally concurrently.

**Audiology Services**

Audiology services provide a similar role to testing laboratories except
that they do not receive specimens, but they have a similar role to
provide reports of results. The results may be in the form of a
narrative consult rather than discrete quantitative data values.

**Medical Home/Primary Care Provider**

The medical home/primary care provider perspective includes clinicians
who may be practicing in various settings ranging from small offices to
large healthcare delivery organizations. Other health care providers who
may be involved in the use of screening-related services involved in the
newborn screening system may include advanced practice nurses, physician
assistants, nurses, audiologists, and other credentialed personnel.
Providers may receive or report screening and testing results to or from
those performing confirmatory testing or diagnostic evaluation.
Providers may also report screening and testing results to clinical or
early intervention providers, as well as public health authorities.

**Diagnostic and Treatment Center**

The diagnostic and treatment center perspective includes clinicians with
expertise in the corresponding newborn screening or confirmation
evaluation/diagnostic evaluation and ongoing medical management. These
may consist of settings ranging from small office practices to hospitals
or other healthcare delivery entities. Diagnostic centers may report
results of screening or diagnostic testing to a child's medical
home/primary care provider, early intervention services, and public
health authorities. Audiology practices, testing centers, individual
audiologists, or small group practices are another example of facilities
that may provide diagnostic testing for confirmation and evaluation of
hearing status for infants who do not pass the hearing screening.

[]{.mark}

**Other Treatment Support Services**

Educational early intervention services for hearing, cognitive and motor
impairments, and dietary support services for some metabolic conditions
are examples of ongoing support services that are required for some
conditions identified by newborn screening. Information flows will focus
on the referral process and confirmation of the start of services rather
than the specific details of the ongoing services provided.

**Public Health**

The public health perspective includes individual and population-based
assessment of rates for screening results, timeliness of screening, case
confirmation or diagnostic evaluation, and receipt of clinical or early
intervention services. Public health authorities include local, state,
district, territory, federal Public Health Service agencies, or others
that may assist and/or operate in a public health capacity. Public
health should receive screening results and facilitate the
multidirectional flow of information through the diagnostic evaluation
in order to determine "confirmed" cases and assurance of follow-up and
treatment.

These perspectives are the focus of the events described in the
following scenarios.

**5.0 Use Case Scenarios for Newborn Screening**

The following scenarios address screening, evaluation, and service
processes in connection with two different types of newborn
screening---newborn dried blood spot screening, and newborn hearing
screening. In addition, a scenario addressing population health
management, including public health reporting and policy development is
included. In all scenarios, the availability and exchange of complete
information of screening-related data would increase the quality and
efficiency of care. Families are at risk to loss to follow-up and loss
to documentation during each transition they make through the early
hearing detection and intervention (EHDI) and newborn dried blood spot
screening process. Tracking and surveillance occurs at each stage of
these processes and information must be transferred with each change in
provider.

**5.1 Scenario 1: Screening Test Performance**

This scenario covers the initial screening test and ends with the
reporting of within range (or normal) screen results or notification of
the need for confirmatory testing.

Hearing detection screening and other screening tests that are performed
at the bedside:

-   During the prenatal period, the parents should receive educational
    materials about newborn screening

-   Documentation of consent or refusal should be obtained

-   Information on all screening and re-screening results performed at
    the birth facility or other locations should be documented and
    periodically submitted to the appropriate public health entity for
    verification

-   The results of hearing detection screening should be reported to the
    health department newborn screening program

-   If adequate hearing screening is not completed prior to hospital
    discharge, or for infants born outside a hospital, arrangements
    should be made to complete screening or re-screening at another
    location and reminders should be sent to the parents for proper
    follow up

-   Information on risk factors and the medical home may also be
    included as part of the screening information that is forwarded to
    the state public health entity

-   The birth hospital or hearing screening program asks parents to
    identify the planned primary care physician

-   The birth hospital maintains a log of infants born and specimens
    sent as well as hearing screenings performed

When the specimen is obtained for newborn dried blood spot screening
(NDBS):

-   During the prenatal period, the parents should receive educational
    materials about newborn screening

-   If required by the state, the parents must provide informed consent
    for testing

-   The birth hospital identifies infants who have received transfusions

-   The birth hospital identifies infants with medical conditions and
    illnesses

-   The birth hospital asks parents to identify the planned primary care
    physician

-   The birth hospital obtains the dried blood spot and other specimens
    on pre-numbered forms

-   The birth hospital sends the specimen to the state public health
    laboratory or state public health contract laboratory

-   The birth hospital maintains a log of infants born and specimens
    sent

-   If the infant was born at an outside center not performing newborn
    screening or at home, the primary care physician obtains the initial
    specimen at the first office visit, as per state policies and
    regulations

-   If the initial specimen was not adequate and the infant is still in
    the hospital, the birth hospital obtains a repeat specimen

-   If the initial specimen was inadequate and the infant has left the
    hospital, the primary care physician obtains a repeat specimen

-   If a second specimen is required because of the medical condition of
    the infant at the time of the first specimen, or is required by the
    state newborn screening program and the infant is still in the
    hospital, the birth hospital obtains a second specimen

-   If a second specimen is required because of the medical condition of
    the infant at the time of the first specimen and the infant has left
    the hospital, the primary care physician obtains a second specimen

-   If a second specimen is collected routinely in a state and the
    infant is still in the hospital, the birth hospital sends the second
    specimen

-   If a second specimen is collected routinely in a state and the
    infant has left the hospital, the primary care physician sends the
    second specimen

When NDBS tests are performed:

-   The state public health laboratory or the state public health
    contract laboratory receives specimens from birth hospitals or
    primary care physicians

-   The lab associates dried blood spot specimen numbers with laboratory
    accession numbers

-   The lab verifies that the specimen is adequate

-   The lab notifies the birth hospital, parents, and primary care
    physician if the specimen must be repeated because of an inadequate
    specimen

-   The lab divides the specimen into aliquots for different types of
    screening

-   The lab performs the tests

-   If the state uses a commercial laboratory for some screening tests,
    specimens are sent from the state public health laboratory to the
    commercial laboratory where the tests are performed and the results
    are reported back to the health department

-   If parents send specimens to a commercial laboratory for additional
    testing, the commercial laboratory performs the tests and sends
    results to the parents and their physician

When the EHDI and NDBS results are reported:

-   If the infant is seen in an emergency department (ED) before the
    results are reported, the ED should check a web site for newborn
    dried blood spot screening results routinely. This is especially
    important during the first two weeks of life and should be
    considered up to age one month.

-   The results are sent to the birth hospital that should check off
    results obtained on the specimen log and file the results in the
    inpatient record

-   The results are sent to the primary care physician, if identified
    when the specimen was obtained

-   If the primary care physician was not identified at the time of
    hospital discharge, the parents authorize the new primary care
    physician to view the results

-   If the primary care physician uses and electronic health record
    (EHR), the results should be reported electronically and
    automatically filed in the electronic chart prior to the visit

-   If the screening results have not been reported prior to a visit,
    the primary care physician should check a web site or send an
    electronic query to obtain the results

**5.2 Scenario 2: Diagnostic Confirmation and Short Term Follow-up**

This scenario covers the diagnostic work-up for an out of range (or
abnormal) screening test.

For NDBS, when out of range (or abnormal) screening results are obtained
indicating the need for additional testing:

-   Family history information should be gathered to supplement
    screening and diagnostic testing for both NDBS and EHDI

-   In some states for NDBS, the lab notifies the birth hospital and
    then tries to locate the parents and the primary care physician to
    initiate confirmatory testing

-   In some states, the lab notifies a subspecialist team first and
    contacts the primary care physician who is given information about
    the specific condition in order to make the initial call to the
    family, and obtains permission from the primary care physician to
    contact the family to provide additional information, and arrange
    for an appointment as needed for evaluation of the infant and
    confirmatory testing 

-   If the correct primary care provider is known, the appropriate
    entity notifies the primary care physician

-   If necessary, the appropriate entity may notify the parents directly
    to check on the condition of the infant and urge that the infant be
    brought in immediately for confirmatory testing

-   The primary care physician obtains on-line information about the
    conditions suspected and the appropriate confirmatory testing
    required

-   The primary care physician sends additional specimens to reference
    laboratories or the state public health laboratory for additional
    testing

-   The reference laboratory performs the tests and reports the results
    to the primary care physician

-   The primary care physician may consult with a specialist and share
    results of initial and/or confirmatory testing

-   Ideally, the primary care physician should report all results of the
    confirmatory testing back to the health department

When a diagnosis is confirmed following an out of range (or abnormal)
NDBS screen:

-   The primary care physician reports the results to the state health
    department and disease registries

-   The primary care physician may refer the child to a specialist and
    share the results of the initial screening and confirmatory testing
    with the specialist

-   In the case of very rare disorder, the primary care physician and
    parents may need to engage in a remote consultation with a
    specialist

-   The primary care physician and the parents obtain additional
    information about the disorder

-   If a carrier state has been identified, appropriate education and
    counseling is initiated and a plan is developed to share results
    with the parents now, and the child when the child is old enough

-   If further genetic testing is available to identify sub-types of a
    disorder such as PKU, specimens may be sent to a genetic testing
    laboratory

-   If genetic testing is part of the confirmatory testing, for example
    for Cystic Fibrosis, specimens are sent to a genetic testing
    laboratory. If a carrier state has been identified, appropriate
    education and counseling is initiated and a plan is developed to
    share results with the parents now, and the child when the child is
    old enough.

For EHDI, when abnormal screening results are obtained indicating the
need for additional testing:

-   Family history information should be gathered to supplement
    screening and diagnostic testing for both NDBS and EHDI

-   Audiological evaluation is the primary form of confirmatory tests.
    Determining the diagnostic etiology of the congenital hearing loss
    often involves molecular DNA testing, again requiring careful
    coordination between the public health program, the primary care
    provider, and the subspecialist.

-   After diagnostic evaluation, the audiologist determines appropriate
    follow up and referrals and forwards results to the health
    department. Many states have a form and/or procedure for
    audiologists to report diagnostic results to them.

-   After confirmation of hearing loss, the audiologist or primary care
    physician makes referrals to a pediatric Ear, Nose, and Throat
    specialist, early intervention services, and back to audiology for
    hearing aid/assistive listening device evaluation. If appropriate,
    she/he will also make referrals to ophthalmology and genetic
    counseling. Results will be forwarded to the medical home and the
    state department of health.

**5.3 Scenario 3: Clinical/Social Management (Initial Follow-up)**

This scenario covers clinical management of children with conditions
identified by newborn screening.

-   If emergency management is required for metabolic conditions in the
    ED or hospital, initial therapy is administered

-   If nutritional intervention is needed, parents receive instructions.
    This may involve several hours or days of inpatient or outpatient
    visits to demonstrate and teach families, for examples, about
    specialized formula preparation and/or signs and treatment of
    hypoglycemia. In infants, this may require monthly follow-up clinic
    visits for metabolite, growth and nutritional monitoring. Children
    and adults with inborn errors of metabolism continue to require
    specialized treatment

-   Children with hearing impairment will need to be followed by
    audiologists and otolaryngologists to determine appropriate
    management (hearing aids, cochlear implants, etc.)

-   Children with endocrine disorders such as hypothyroidism and
    congenital adrenal hyperplasia will need ongoing follow-up by
    endocrinologists to regulate hormone medication.

-   During acute illnesses hospital-based specialized services,
    including intensive care, may be needed

-   There is a need for all health care providers involved at various
    sites to be able to track care of these patients through the EHR

-   If other disorders are identified, appropriate management guidelines
    are included in the medical record, for example, for sickle cell
    diseases/other hemoglobinopathies. Parents receive genetic
    counseling and instructions about appropriate follow-up and
    treatment.

-   As other disorders are added to newborn screening and new treatment
    modalities implemented, specialized treatment centers will be needed
    such as for stem cell transplants and enzyme therapy.

-   If appropriate, the family is referred for social, early
    intervention, or special education services

-   Referral to early intervention programs should be documented for any
    infant with developmental, neurological, including hearing loss,
    impairments detected by newborn screening

**5.4 Scenario 4: Population Health Management and Long Term Follow-up**

This scenario covers public health reporting, program monitoring, and
health services research that supports future policy development to
improve the outcome of individuals through the newborn and related
screening processes.

-   Long term follow-up and outcomes of the screening process should be
    reported back to the health department at appropriate intervals.
    Changes in patient names and addresses may make this difficult to
    complete for large numbers of patients using mailed surveys.

-   Registries can be used to track outcomes and dates of last contact
    with patients receiving dietary or other management for conditions
    identified through newborn screening

-   Long term follow-up of hearing detection may require linkages and
    reporting from the school and other educational systems subject to
    informed consent from the parents and compliance with FERPA

-   Data are used to track and estimate screening rates for both NDBS
    and EHDI

-   Data are used to track and confirm rates of completion of all
    recommended confirmatory or diagnostic testing for both NDBS and
    EHDI

-   Data are used to track and confirm rates and timing of clinical or
    early intervention service delivery

-   Data may be used to measure the number of infants with conditions
    identified by newborn screening

-   Data are used to measure rates of false positives

-   Where appropriate, data may be used to evaluate selection of cut-off
    points for within/out of range (or normal/abnormal) results

-   Where appropriate, data modeling and simulation may help to evaluate
    alternative methods and policies for screening protocols and testing

```{=html}
<!-- -->
```
-   Results of newborn screening programs are reported back to birth
    facilities, medical homes, healthcare providers, early intervention
    providers, and the family

It also focuses on public health reporting for:

-   Screening of infants not born in hospital facilities; and

-   Infants born within the state jurisdiction and receiving follow-up
    services in another state jurisdiction

[]{.mark}

**6.0 Information Exchange**

Information exchange is required for many phases of NDBS screening and
EHDI to aid in communication between the various providers and
participants as well as to communicate with the state public health
department. Methods and resources vary in different regions, but common
interoperable standards will facilitate uniform interfaces for health
information technology that can be used in any state or region. Critical
to the development of health information exchange is building trust
among the parties who will communicate information electronically and
assurances that patient privacy and data integrity will be protected.

**Health Information Exchange (HIE)**: A multi-stakeholder entity that
enables the movement of health-related data within state, regional, or
non-jurisdictional participant groups. An HIE provides several core
services that can be used to support newborn dried blood spot screening
and early hearing detection and intervention activities. An HIE should
provide a document repository as well as point to point communication. A
master patient index and a record locator service can help track and
coordinate care for the same patient at different sites and settings.
The HIE also provides important privacy and security services to support
patient and provider authentication, secure data transmission, logging
of data access, and control of data access permissions. Consumer
services are becoming an important part of many HIE organizations today.

**Point-to-Point Exchange**: A direct link or communication connection
with defined endpoints. This is the usual approach for reporting
laboratory results from the laboratory to providers and can also be used
for communication of hearing testing and communication between providers
caring for the same patient.

**Medical Summaries:** Electronic clinical documents that are both human
readable and also contain discrete standardized data elements that can
be extracted by electronic health records. Medical summaries provide an
important tool for integrating data from multiple sources and tracking
data over time. They typically contain demographic data, problems lists,
tests ordered, test results, medications lists, family history, and a
list of health care providers and encounters. They may be an effective
tool for sharing data from the entire NDBS and EHDI process. Medical
summaries can be carried by the patient or made web accessible to
multiple providers, sent point to point between providers, or stored in
the document repository or registry of an HIE. Medical summaries can
also be used to replace or supplement conventional laboratory report
documents.

**7.0 Dataset Considerations**

There currently exists considerable variability in the degree to which
different types of newborn screening have associated data standards. For
example, no ANSI Standards have considered the specific needs of the
hearing evaluation of infants/children. No acoustic stimuli and
calibration standard measurement exist for the level of transient
signals used in otoacoustic emissions (OAE) or auditory brainstem
response (ABR). ICD-9 codes are medically based for billing purposes and
do not include audiology services. CPT codes do not exist for newborn
hearing screening, and LOINC, SNOMED, HL7, ASC X12 coding do not
presently meet the needs for clinical practice or recording of results
in regards to newborn hearing. Standards for reporting of Newborn Dried
Blood Spot Screening results are currently under development by HL7, and
LOINC codes are being developed for describing the tests and analytes.
Additional standards are needed for results of genetic screening such as
may be used for confirmation of Cystic Fibrosis testing.