Project Grant UC153084

COOPERATIVE NEWBORN SCREENING SYSTEM PRIORITIES PROGRAM - EVERY YEAR OVER 12,000 MONTANA NEWBORNS ARE SCREENED PRIOR TO HOSPITAL DISCHARGE FOR GENETIC AND METABOLIC CONDITIONS THROUGH THE MONTANA PUBLIC HEALTH LABORATORY AS PART THE NEWBORN SCREENING PROCESS. FOR BABIES WHO TEST POSITIVE FOR ONE OF THESE CONDITIONS, RAPID IDENTIFICATION AND TREATMENT MAKES THE DIFFERENCE BETWEEN HEALTH AND DISABILITY -- OR EVEN LIFE AND DEATH. NEWBORN SCREENING TESTS RELY ON QUALITY SPECIMENS. UNSATISFACTORY SPECIMENS ARE NOT TESTED DUE TO THE POSSIBILITY OF ERRONEOUS RESULTS AND REQUIRE RECOLLECTION. THIS PROCESS IS NECESSARY, BUT ALSO DELAYS NEWBORN SCREENING RESULTS AND DIAGNOSES THAT COULD AFFECT THE LONG-TERM HEALTH OF THE BABY. IN ADDITION, BEING A LARGE STATE WITH A SPARCE POPULATION, TRANSPORT OF NEWBORN SCREENING SPECIMENS CAN BE A CHALLENGE. THIS CHALLENGE IS ANOTHER FREQUENT CAUSE FOR DELAYS IN NEWBORN SCREENING TEST RESULTS. MANY METABOLIC CONDITIONS ON THE CURRENT NBS PANEL REQUIRE FOLLOW UP BIOCHEMICAL TESTING FOR ONE OR MORE METABOLITES AFTER THE INITIAL ABNORMAL NBS RESULT IN ORDER TO CONFIRM A TRUE POSITIVE AND ESTABLISH THE DIAGNOSIS OR DETERMINE A FALSE-POSITIVE. BIOCHEMICAL SPECIMEN COLLECTION AND TRANSPORT REQUIRES SPECIALIZED COLLECTION, HANDLING, AND TRANSPORT TO OUT OF STATE LABORATORIES, CONDITIONS THAT ARE CHALLENGING FOR MANY RURAL CLINICS AND CRITICAL ACCESS HOSPITALS SERVING RURAL COMMUNITIES IN MONTANA. THIS IMPROPER COLLECTION AND/OR TRANSPORT LEADS TO INADEQUATE SAMPLE QUALITY, COMPLICATES RESULT INTERPRETATION AND FREQUENTLY THE NEED FOR REPEATED SAMPLE COLLECTION, ALL CONTRIBUTING TO A DELAY IN CONFIRMATORY TESTING AFTER AN ABNORMAL NBS RESULT. IN THE COMING YEARS THE MONTANA NEWBORN SCREENING PROGRAM HOPES TO SUPPORT CURRENT PROGRAM ACTIVITIES BY STRENGTHENING RELATIONSHIPS WITH PUBLIC HEALTH ENTITIES WITHIN THE STATE AND WITH OTHER NEWBORN SCREENING PARTNERS. WE HOPE TO WORK TOGETHER WITH THESE STAKEHOLDERS TO IMPROVE TURNAROUND TIME FOR DIAGNOSIS, ACCESS TO SERVICES AND OUTCOMES FOR CHILDREN IDENTIFIED WITH A HERITABLE CONDITION THROUGH NEWBORN SCREENING, SO THEY ARE HEALTH, GROWING, AND THRIVING. MONTANA'S MAIN GOALS, SHOULD FUNDING BE AWARDED, ARE TO ENSURE AND IMPROVE UPON TIMELY TESTING AND SPECIFIC TREATMENT FOLLOWING DIAGNOSIS; TO IMPROVE SHORT-TERM AND LONG-TERM FOLLOW-UP CARE THROUGH COLLABORATION WITH DPHHS AND OTHER MONTANA ENTITIES; AND TO EMPOWER FAMILIES WITH KNOWLEDGE AND RESOURCES TO BETTER UNDERSTAND AND NAVIGATE THE NBS SYSTEM. THOUGH OUR WORK IN ACHIEVING THESE GOALS, THE MONTANA NEWBORN SCREENING PROGRAM WILL TAKE EXTRA CARE TO ENSURE THAT ALL PROGRAM OBJECTIVES ARE MET WHILE ENSURING THAT ACTIVITIES MENTIONED IN FOCUS AREA 1 AND FOCUS AREA 2 ARE AT THE FOREFRONT OF THIS PROJECT. THESE FOCUS AREAS WILL ADDRESS INTEGRATION OF DNA TESTING INTO CONFIRMATORY TESTING OF INITIAL ABNORMAL NBS RESULTS, AND TIMELY EVALUATION, SPECIFIC TREATMENT AND MANAGEMENT OF MULTISYSTEM DISORDERS DETECTED BY NBS.