DSHS Texas Newborn Screening Program Processes

1. DSHS Texas Newborn Screening Program Processes Susan Tanksley, PhD David Martinez April 10, 2008

2. NBS Case Management Follow-Up Components • Short-Term Follow-Up • Frequent Communication with Health Care Providers • Frequent Reporting of follow-up results • Monitoring

3. NBS Case Management Follow-Up Components continued: • Documentation • Family Involvement • Continuous Education • Long-Term Follow-up • Consultants/Sub-specialist Participation

4. Case Management Process Flowcharts • Case Management (General High Level) • Initial Notification of Abnormal Screen - Case Management activities - Physician/Facility/Parent activities • CAH (Congenital Adrenal Hyperplasia) • GAL (Galactosemia)

5. Case Management Process Flowcharts continued: • Hemoglobinopathy • PKU (Phenylketonuria) • Hypothyroidism

6. NBS Case Management General Process Flow Case Creation: Abnormal result Very abnormal specimens are faxed notification received immediately to CM for immediate action by nurses. An abnormal result creates a case in LIMS. CM confirms receipt w/lab for very abnormal results. InitialNotification of Abnormal Result Possible Actions Needed -(dependent on disorder & screen type) -Repeat Screen -Blood work, Diagnostic Testing -Referral to Specialist Conduct/Continue follow-up activities until resolution. NO Action taken by PCP/Physician? YES A

7. NBS Case Management General Process Flow Continued A YES NO Patient cleared from DX or DX patient referred to Specialist? Document clinical feedback in LIMS to complete short-term follow-up END

8. Initial Notification of Abnormal Screen • Case Management Responsibilities - Can Doctor be contacted? If yes, provide results and recommend action - Determine if baby is in hospital - Request assistance with locating parent - Research child and family locations - Attempt to contact family, provide results obtain doctor information

9. Initial Notification of Abnormal Screen continued: • Case Management responsibilities continued: • Check Medicaid database, other resources • Utilize Regional Social Workers to assist with locating a family/connecting family and providers with services - Involve other agencies including law enforcement if necessary - Repeat steps necessary to clear a newborn or to obtain a diagnosis

10. Initial Notification of Abnormal Screen continued: • Physician/Facility/Parents Responsibilities • Doctor agrees to follow-up with newborn/family • Doctor agrees to scheduling appointments, take necessary steps to obtain confirmed diagnosis • Hospitals assist with locating parent • CM contacts parents,

11. Initial Notification of Abnormal Screen continued: • Physician/Facility/Parents Responsibilities • Case Management provides results and recommends action, parents act • Parent provides PCP information to Case Management • If no PCP for newborn, parent must obtain PCP, may need to take newborn to ER • Parent must follow-up to ensure newborn receives treatment and care if diagnosed

12. ACT Sheets • Act sheets are adapted from the American College of Medical Genetics • ACT sheets are provided to doctors as recommended actions or immediate actions

13. ACT Sheets continued: • All ACT Sheets contain the following information: - Differential Diagnosis - Condition Description - Action Box • Medical Emergency: Take the Following IMMEDIATE Actions • You Should Take the Following Actions

14. ACT Sheets continued: • Diagnostic Evaluation • Clinical Observations • Additional Information – website resources

15. Case Management Long-Term Follow-Up • Begins at the point a diagnosis is made • CM requests periodic reporting of child progress • General Information Requested - Child still under doctor’s care • Moved • Lost to follow-up • Deceased • Referred

16. Case Management Long-Term Follow-Up continued: • Child under treatment/medications/diet • Has child been hospitalized? • Has child seen specialist? • Are parents aware of the diagnosis? • Do parents understand the disorder? • Has genetic counseling been provided?

17. Case Management Long-Term Follow-Up continued: • Disorder specific information requested (examples) - PKU – How often phenylalanine levels monitored? - Sickle Cell Disease – Have risk factors of the disease been explained to the parents? - CAH – physical development, genitalia, acute illness

18. Immediate notification PCP/Specialist involvement Family Involvement Confirmatory/Addi- tional testing as needed Report results to CM Genetic testing for family Diagnosis obtained Doctor/Family Education Treatment is delivered as soon as possible Lifetime care for some disorders Key Points in the Process

19. Questions?