DSHS Texas Newborn Screening Program Processes

Susan Tanksley, PhD

David Martinez

April 10, 2008

NBS Case Management Follow-Up Components

Short-Term Follow-Up Frequent Communication with

Health Care Providers Frequent Reporting of follow-up

results Monitoring

NBS Case Management Follow-Up Components continued:

Documentation Family Involvement Continuous Education Long-Term Follow-up Consultants/Sub-specialist Participation

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)

Case Management Process Flowcharts continued:

Hemoglobinopathy PKU (Phenylketonuria) Hypothyroidism

Case Creation:Abnormal result

notification received

NBS Case Management General Process Flow

Very abnormal specimens are faxedimmediately to CM for immediate actionby nurses. An abnormal result creates acase in LIMS.

InitialNotification of

AbnormalResult

Action takenby PCP/Physician?

Possible Actions Needed -(dependent ondisorder & 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

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

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

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

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,

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

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

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

ACT Sheets continued:

Diagnostic Evaluation Clinical Observations Additional Information – website resources

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

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?

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

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

Questions?