2015 Priority List
Newborn dried blood spot collection time and state
The system where the blood spot test was performed shall record the State and collection date and time with precision to no less than the nearest clock hour for when each newborn screening dried blood spot was collected. Multiple samples at multiple times may be collected, such as in States that require repeat testing or on prematurely born neonates.
The newborn screen is often carried out in the ambulatory setting for out-of-hospital births, or in States that require a second specimen at 1–2 weeks of age, for premature infants or those who received transfusions, or when there is need to repeat the test due to improper collection of the first sample or borderline results. The data required to complete a blood spot request form (usually part of the filter paper card include the State where the testing will be performed (the State of birth and not the State of residence or where care is received and the infant’s age in hours when the sample was collected. Multiple tests may be required and the reason for each test may be part of the request form or the test report. Some States are beginning to use electronic ordering of newborn screening using HL7 messages and it is not required that vendors are capable of submitting these order messages, but the information necessary to complete a manual order on the filter paper card should be available in the EHR.
Most States implement the Recommended Uniform Newborn Screening Panel (RUSP that changes under guidance from the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC and many States implement screening for additional conditions or participate in pilot studies for new tests.
Newborn screening is normally carried out in the State where the infant was born, which may not be the same as the State of residence or the State where the infant receives primary care. Newborn screening should always be completed in the State where it was begun. This means that an ambulatory practice may need to send specimens to different States for different patients, accept results from multiple newborn screening laboratories, and communicate with multiple State newborn screening programs that may be based in different parts of the health departments in different States.
There are three phases to newborn screening that should be supported by a child EHR. First, it is essential to assure that all newborns are screened, including performing screening, in the ambulatory setting if it was not done at the birth facility. Second, short-term followup involves confirmatory testing or specialty referral for all out-of-range tests and may include second- specimen testing in some States and special protocols for premature infants or infants who received transfusions. The unit of the State public health department responsible for short-term followup varies from State to State and is not always the newborn screening laboratory. The third phase is long-term followup and initiation of treatment for all conditions identified by newborn screening that were not ruled out by short-term followup. For some conditions, short-term followup can take as long as 1 year or more and some conditions may represent carrier states or late onset conditions that will require attention and sharing of information when the child is older. Because newborn screening deals with rare, serious, and time-critical conditions, it is very important that any screening tests that were not done, any out-of-range tests that require further evaluation, and any conditions detected by newborn screening be included on the problem lists so that all providers who see the infant are aware of these care requirements. Preferably, alerts should be generated for any of these three types of concerns.
The National Library of Medicine maintains a Web site (http://newbornscreeningcodes.nlm.nih.gov/ that contains important information to support newborn screening in an EHR, including LOINC codes for all tests and results used by all States and SNOMED CT and ICD10CM codes for all conditions detected by newborn screening. This reference is important because newborn screening deals with rare conditions that sometimes have variant diagnoses. It is important to code these conditions precisely and correctly. Newborn screening conditions also must be reported correctly to public health and to birth defects registries. In the past, it was not always possible to correctly code or describe newborn screening conditions using ICD9CM or local medical vocabularies. The CDC developed a special version of ICD9 with three decimal places to handle these conditions for birth defects tracking. Many EHRs might lump these conditions under nonspecific diagnostic categories including Not Otherwise Specified (NOS but this is no longer appropriate and all newborn screening conditions do have appropriate and specific codes in SNOMED CT and ICD10CM, which are preferred terminologies for problem lists.
Because newborn screening deals with rare conditions that a practitioner may see only once in a lifetime of practice, special ACTion (ACT Sheets were developed the American College of Medical Genetics (ACMG and promulgated by AAP and AAFP. These ACT sheets describe essential actions to be taken and important information to share with parents and are available from the ACMG Web site: http://www.acmg.net/
Many States modify the ACT sheets to include local resources, and because only conditions on the RUSP are included in the ACT sheets, States need to provide guidance on management of conditions they screen for that are not currently on the RUSP. Some States distribute ACT sheets with abnormal newborn screening results and a child EHR should include a national ACT sheet for any out-of-range newborn screening test or any confirmed newborn screening diagnosis. Unfortunately, the ACT sheets are human readable and not yet suitable for incorporation into clinical decision support and alerting systems using data provided by ACMG. Any provider seeing an infant during short-term followup or long-term followup should be aware of the condition, which should appear on the problem list and the problem list entry should be linked to the display of the appropriate ACT sheet.
An additional source of information about genetic conditions that are the target of newborn screening is the Genetic Home Reference maintained by the National Library of Medicine at
This is a reliable resource for providers and includes cross-references to many other sources of information, testing, support groups, and referrals. Providers should also be linked to On Line Mendelian Inheritance in Man (OMIM (http://www.omim.org or http://www.ncbi.nlm.nih.gov
) for in-depth background and classic literature on genetic conditions with linkage to chromosome and molecular data. The NLM newborn screening codes include references to OMIM numbers for appropriate monographs and curated bibliographies on newborn screening conditions.