Sending and Receiving Newborn Screening (NBS) Results in Indiana. Bob Bowman, MS, MA, MS Director of Genomics and Newborn Screening

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1 Sending and Receiving Newborn Screening (NBS) Results in Indiana Bob Bowman, MS, MA, MS Director of Genomics and Newborn Screening

2 ISDH Repository The ISDH Repository Core stores identifiable/centric data for people and places. The Core maintains multiple versions of each data object. Original versions of data allow each program area to have their version of data which eliminates the possibility of another source overwriting their content. Event data is separated into application or source specific schemas allowing programs the flexibility to customize to their own unique needs. The Application Program Interface (): ISDH Repository is a middle-tier object between the database and applications/data source. It enforces business rules and standards required by the ISDH Repository. It helps maintain data integrity, improve security and HIPAA standards, and reduce redundant code. ISDH Repository Core Birth Defects Newborn Hearing Newborn Screening VR Birth Records VR Death Records SAERS VR Fetal Death Morbid Obesity

3 ISDH Repository IOT Internal / External Web Applications ISDH Repository Core Vital Records ISDH Gateway Apps INSTEP Birth Defects IU/Regenstrief EARS/EHDI Sickle Cell Cystic Fibrosis Birth Defects Registry Acute Care Maternal Mortality MODE SAERS Person Search DMZ - FIREWALL Newborn Hearing Newborn Screening VR Birth Records VR Death Records SAERS VR Fetal Death Morbid Obesity Physicians Hospitals ISDH - MCSHC FSSA Data Providers Consumers

4 EHDI Alerts and Response System (EARS)

5 Indiana Newborn Screening Tracking and Education Program Application (INSTEP)

6 INSTEP

7 INSTEP

8 NBS Specimen Gate Lab Results Pipe-Delimited Flat File 2010accession K MRN SMITH INFANT Amino Acid Disorders Normal 2010accession K MRN SMITH INFANT Biotinidase Deficiency Normal 2010accession K MRN SMITH INFANT Cystic Fibrosis Normal 2010accession K MRN SMITH INFANT Endocrine Disorders Normal 2010accession K MRN SMITH INFANT Fatty Acid Disorders Normal 2010accession K MRN SMITH INFANT Galactosemia Normal 2010accession K MRN SMITH INFANT Hemoglobinopathy Normal 2010accession K MRN SMITH INFANT Organic Acid Disorders Normal

9 NBS Specimen Gate Lab Results Includes the following data elements Accession number Requisition number Medical record number Infant's last name Infant's first name Sex Infant's race Infant's ethnicity Birth weight Birth order Date of birth Time of birth Type of sample Date the sample was drawn Time the sample was drawn Date the sample was received Specimen quality code 1 Specimen quality code 2 Specimen quality code 3 Date of the first protein feed Time of the first protein feed Type of protein feed Whether or not the baby was premature Whether or not the baby was transfused Date the baby was transfused Gestational age Phlebotomist's code Previous accession number Mother's last name Mother's first name Mother's date of birth Mother's street address Mother's city Mother's county Mother's state Mother's zip code Mother's phone number Submitting hospital code Birth hospital code Doctor's last name Doctor's first name Doctor's street address 1 Doctor's street address 2 Doctor's city Doctor's state Doctor's zip code Doctor's phone number Date and time the mailer was printed Group Analyte Action Text Determination Normal range Hearing category Hearing date right Hearing date left Hearing result right Hearing result left Hearing risk factors Hearing not screened Previous Surname RCDisplayName

10 ISDH Repository Loader Processes results and person information through centralized Application Program Interface (). Data is matched, deduplicated, and normalized into the ISDH Repository.

11 Person Matching Person Details During Person Process the following keys are analyzed Keys 1-9 are reserved for special keys custom to the calling program area Special Keys for Vital Records Birth Key 1: Last Name, Birth Certificate # Key 2: Date of Birth, NBS Requisition # (specimen gate) Key 3: Date of Birth, NBS Requisition # (birth) Key 4: Last Name, Date of Birth, Medical Record Number (birth) Key 5: Last Name, Date of Birth, Medical Record Number (specimen gate) Person Process Function Staged Person Special Keys for Newborn Screening- Specimen Gate Key 1: Date of Birth, Time of Birth, NBS Requisition # Key 2: Date of Birth, NBS Requisition # (birth) Key 3: Date of Birth, NBS Requisition # (specimen gate) Key 4: Last Name, Accession Number Key 5: Date of Birth, Accession Number Key 6: Date of Birth, Time of Birth, Last Name Key 7: Date of Birth, Last Name, First Name Key 8: Date of Birth, Medical Record Number (specimen gate) Key 9: Date of Birth, Medical Record Number (birth) Found Match Search for Matching Key Did not Find Match Keys are general matching keys for all non- staged records Key 10: SSN, First Name Initial, Last Name(6), Mothers Maiden.. Key 11: SSN, First Name, Maiden Name. Key 12: SSN, Gender, Last Name Key 13: DOB, SSN, TOB Key 14: DOB, TOB, Birth Order, Last Name, First Name, Middle Name Initial Key 15: DOB, TOB, Birth Order, First Name, Mothers Maiden Name Key 16: DOB, First name, Last name, Maiden Name Key 17: DOB, First name, Last Name, Gender, Mothers maiden Key 18: DOB, TOB, Birth Order, Mothers Maiden Key 19: DOB, Last Name, BirthOrder, TOB Key 20: DOB, Last Name, First Name, Middle Key 21: DOB, Last Name, First Name, Middle Name Initial Key 22: DOB, Last Name (6/6), First Name, Middle Key 23: DOB, Last Name, First Name, Middle Int (optional) Key 24: First, Last, DOB >> Security Code in Key 25: First, Last, DOB >> Integrated View Update Person Records ISDH Repository Create New Person

12 Mirth Connect Mirth is used to transform NBS messages from the normalized repository into individual HL7 messages for delivery to Regenstrief / ICEPHI then to providers.

13 HL7 NBS Message Messages created to conform to IU / Regenstrief specification. Later releases will incorporate NLM specifications and standard vocabularies (LOINC, etc.) MSH ^~\& RLY_NB RILEY NEWBORN REGEN ORU^R PID ^^^ CHILD^ value 12 0 NK1 CHILD^ Mother Here^^INDIANAPOLIS^IN^46222^^^^MARION PV1 ^ROGERS^FRED OBR 1 K999999^ISDHNB ^RLY_NB 556^NEW BORN SCREENING^L K999999&ISDHNB^ &RLY_NB RM ZLR 8111 TOWNSHIP LINE RD^SUITE 100^INDIANAPOLIS^IN^46260 ^^ OBX 1 NM 509^WEIGHT OF NEWBORN BABY^L 1300 g OBX 2 ST 550^BIRTH ORDER^L OBX 3 NM 510^BIRTH HOSPITAL CODE^L 032 OBX 4 CE 511^TYPE OF SAMPLE^L 533^REPEAT^R OBX 5 TS 512^DATE AND TIME OF FIRST PROTEIN FEED^L OBX 6 CE 513^TYPE OF PROTEIN FEED^L 520^LACTOSE^R OBX 7 CE 514^WAS THE BABY PREMATURE?^L 525^YES^R OBX 8 CE 515^WAS THE BABY TRANSFUSED?^L 526^NO^R OBX 9 TS 554^DATE BABY TRANSFUSED^L OBX 10 NM 516^GESTATION AGE^L 29 weeks OBX 11 TS 517^DATE AND TIME MAILER WAS PRINTED^L OBX 12 CE 79^NORMAL^L 526^NO^R OBX 13 CE 535^HEARING NOT SCREENED^L 540^NICU^R OBX 14 CE 534^HEARING CATEGORY^L 518^INITIAL^R OBX 15 CE 527^HEARING RISK FACTORS^L OBX 16 CE 528^NEWBORN HEARING SCREEN^L 540^NICU^R ^ OBX 17 CE 593^SPECIMEN QUALITY CODE^L 0 OBX 18 CE 552^SPECIMEN QUALITY CODE 1^L 0 OBX 19 CE 553^SPECIMEN QUALITY CODE 2^L 0 OBX 20 CE 1^AMINO ACID DISORDERS^L 79^^L^NORMAL^^L null OBX 21 CE 545^BIOTINIDASE DEFICIENCY^L 79^^L^NORMAL^^L null OBX 22 CE 626^CYSTIC FIBROSIS^L 79^^L^NORMAL^^L null OBX 23 CE 4^FATTY ACID DISORDERS^L 79^^L^NORMAL^^L null OBX 24 CE 5^GALACTOSEMIA^L 79^^L^NORMAL^^L null OBX 25 CE 6^ORGANIC ACID DISORDERS^L 79^^L^NORMAL^^L null OBX 26 CE 546^HEMOGLOBINOPATHY^L 79^^L^NORMAL^^L null OBX 27 CE 2^ENDOCRINE DISORDERS^L 558^^L^OH-C ^THE SCREEN FOR CONGENITAL ADRENAL HYPERPLASIA IS ABNORMAL. FURTHER FOLLOW-UP IS NECESSARY TO EVALUATE THIS INFANT.^L < 24 NG/ML A