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

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

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 doctors 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. Key Points in the Process 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

19. Questions?