Flow of samples and information for newborn screening in a model of publicprivate
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1 Flow of samples and information for newborn screening in a model of publicprivate partnership Marzia Pasquali, PhD, FACMG Associate Professor of Pathology, University of Utah Medical Director, Biochemical Genetics and Newborn screening, ARUP Laboratories
2 Newborn screening is a program The efficiency and effectiveness of a newborn screening program is dependent upon the smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, and tracking of outcomes.
3 PILOT PROJECT ( ) Representatives from the Utah Department of Health, ARUP Laboratories, and the Metabolic Center at the University of Utah designed a pilot project to demonstrate feasibility of a collaborative approach for expanding newborn screening. Each entity in this collaborative project was contributing its specific expertise.
4 Primary Childrens Medical Center University of Utah School of Medicine Utah Department of Health University Hospital Connor Road 1 Mile ARUP All collaborating entities are in close physical proximity Research Park Chipeta Way
5 UTAH Newborn screening program Education Evaluation Clinical care Follow-up
6 PILOT PROJECT ( ) Only one hospital was included (limited number of samples) Demographic data were entered from the Department of Health into a Microsoft Access database and transmitted to ARUP Laboratories database in flat files. From ARUP the information were sent back to the DoH with additional fields: AMINO ACID PROFILE, ACYLCARNITINE PROFILE. The results entered in these fields were either: NORMAL, or ABNORMAL. The ABNORMAL result was always associated with a comment indicating the abnormality, the significance, and the action to be taken.
7 Newborn Screening in Utah (2006) PKU Congenital Hypothyroidism Galactosemia Hemoglobinopathies Newborn Hearing Screening MCAD Deficiency MSUD Homocystinuria Biotinidase Congenital adrenal hyperplasia Others detectable by MS/MS
8 NEWBORN SCREENING WORKFLOW Hospital State Health Lab GALT, Thy, CAH Biot, SS Metabolic Specialist Medical Home Baby is born ARUP at the Univ of Utah Expanded screen by MS/MS Patient & Family
9 NEWBORN SCREENING WORKFLOW
10 Identifiers: 1) Kit Number (unique to the baby) 2) Accession number (unique to the specimen)
11 NBS Excel Spreadsheet (NBR*.DAT)
12 NBO*.DAT Orders HL7 HL7 HL7 PathNet HL7 OHR Interface engine Orion Health Rhapsody ANSR
13 HL7 MESSAGES ORDER MESSAGE RECEIVED MSH ^~\& NBSL MMDD ORM^O P PID 1 351A745 DOE^JANE 2007MMDD F ORC NW OBR ^NBS^2 2007MMDD S OBX 1 NM 80192^NBS-TMS BIRTH WEIGHT IN GRAMS 3671
14 NBR*.DAT NBO*.DAT Locate matches Active.MDB Access database Found match FTP inbs*.dat HL7 result file
15 FTP inbs*.dat HL7 result file HL7 OHR Results HL7 HL7 PathNet HL7 OHR
16 HL7 MESSAGES RESULT MESSAGE SENT BACK TO DoH. MSH ^~\& ARUP MMDD ORU^R MMDD P 2.3 PID 1 S A745 DOE^JANE^ 2007MMDD F OBR ^NEWBORN SUPPLEMENTAL 2INTERPS 2007MMDD S F OBX 1 ST 80048^AMINO ACID PROFILE NORMAL OBX 2 ST 80049^ACYLCARNITINE PROFILE NORMAL
17 ABNORMAL RESULTS Abnormal results are transmitted electronically The follow-up program is alerted electronically through their laboratory information system Abnormal results are also called by phone
18 Confirmatory tests Abnormal screening results are followed up with confirmatory tests Contract with the State includes these tests Web access to results
19 ARUP CONNECT
20 ARUP CONNECT
21 Diagnostic time Average time from Date of Birth to diagnosis: PKU 5.5 days MCAD deficiency 5.3 days
22 System monitoring For every step in the process there are checks developed to monitor sample processing and data transfer. Follow-up of abnormal results are monitored at the DoH and ARUP Laboratories to assure prompt action.
23 SUMMARY In Utah, the public-private partnership has allowed expansion of the newborn screening program, with each component providing its specific expertise. Electronic data exchange allows fast communications among different entities. The collaboration improves diagnostic time and patients care.
24 THANK YOU! ARUP NBS Laboratory ARUP IT Department
25 Department of Health Steven Tuttle Barbara Jepson Fay Keune Norman Brown Harper Randall, MD Pat Luetdke, MD, PhD THANK YOU! University of Utah Nicola Longo, MD, PhD
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