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Genetic Disease Screening Program


  • About GDSP
  • Onboarding Process
  • Onboarding Information
  • FAQ
  • Contacts
  • Resources

About GDSP

The Genetic Disease Screening Program (GDSP) of the California Department of Health works to protect and improve the health of all Californians. The Genetic Disease Screening Program offers the following programs to support its mission:

Newborn Screening Program

The Newborn Screening Program is one of the public health programs administered by GDSP that screens all babies for many serious diseases. California has a law that requires that all babies be screened for 80 different diseases. If not found and treated early, many of the diseases can cause serious and permanent health problems, severe developmental delay and even death. Please click here for more information on the Newborn Screening Program.

Prenatal Screening Program

The activities of the California Prenatal Screening Program (PNS) are focused on detecting birth defects during pregnancy. PNS is working to assure prenatal screening services and follow-up diagnostic services, where indicated, are available to all pregnant women in California. Prenatal screening currently offers three types of screening tests to pregnant women in order to identify individuals who are at increased risk for carrying a fetus with a specific birth defect. Please click here for more information on the Prenatal Screening Program.

GDSP HIE initiative

The Genetic Disease Screening Program (GDSP) is working together with the California Department of Health (CDPH) Health Information Exchange (HIE) Gateway to extend the functionality of GDSP’s Screening Information System application to share GDSP health related information with providers electronically through either HL7 format or email or other electronic means.

The GDSP HIE initiative intends to provide an efficient solution for sharing health information with hospitals and clinicians, and move away from paper-based and manual processes.

Currently GDSP sends NBS results electronically to Perinatal Licensed Health Facilities (Hospitals or Birthing Centers). In order to start receiving electronic NBS test results from the GDSP program, please register via the CDPH Gateway (on this website) and then enroll in the GDSP HIE program. Please refer to the “Onboarding Process” and “Onboarding Information” tab for instructions and more information.

Onboarding Process

Please refer to the below step-by-step instructions to complete enrollment into GDSP HIE for managing health information related to GDSP electronically. Please note that enrolling with GDSP does not meet specific Meaningful Use measure/criteria at this time but helps organizations reduce paper based exchange and manual data entry and improve the quality of care.

Step 1: Register with the CDPH HIE Gateway

Note: If you have already registered with CDPH HIE Gateway, log in to your account at https://hiegateway.cdph.ca.gov, click on the “My Submissions” tab, then skip to Step 4, item 2.
  1. Register at the CDPH HIE Gateway by clinking on the link to register for an account that is located on the home page.

  2. You will receive an email from HIEHelp@cdph.ca.gov requesting confirmation of your registration.

Step 2: Confirm your Email Address and Registration

    Click on the link provided in the email you received from HIEHelp@cdph.ca.gov
    You will be taken to a webpage where you will need to log in with the Username and Password just created.

Step 3: Complete your Contact & Organization Information

  1. The following screen will appear:
  2. Please enter your Organization Information below.

  3. Complete the information and Click the “Submit” button.

Step 4: Enroll for Genetic Disease Screening Program

  1. Click on “My Submissions” menu on top then click on “Manage Submissions” sub-menu. You will be taken to a “Manage Submissions” web page as shown below:
  2. Click the GDSP “Enroll” button and provide the information requested as per instructions on the website.
  3. After providing all the relevant information, the GDSP program will reach out to the contact provided for discussing next steps and instructions.

Onboarding information and supporting material

Step 1 - GETTING STARTED

Step 2 - IMPLEMENTATION

    1. GDSP Message Specifications

Step 3 - CLOSURE

    1. Entrance Criteria

Sample Implementation Schedule

The below graphics shows an illustrative implementation schedule for preparing your organization to receive GDSP health related information electronically (HL7 format).

HIE Implementation Schedule

HL7 Message Format

Currently GDSP only supports HL7 standard v2.5.1 for sending health related information.
Below are key details regarding the HL7 message format:
  • HL7 Version: HL7 v2.5.1
  • Standard: Public Health Informatics Institute (PHII) and U.S. National Library of Medicine (NLM):
  • Medium: Secure File Transfer Protocol through an external server

  • Note:Each HIE Receiver will have a dedicated folder, for both the Inbound and the Outbound Directory

  • Frequency: Daily, excluding Saturdays and State Holidays
  • File Format: HL7 messages to be zipped and place on both Inbound and Outbound Directory of SFTP server
Below are details for each message type (Newborn Screening results & Acknowledgement/Error message):
  • Newborn Screening Results:
    • Message Type: ORU^R01 (Results)
    • Timing: Electronic Test Results will be placed in respective Outbound directories at 9:00 PM PST
  • Acknowledgments / Error Messages:
    • Message Type: ACK^R01^ACK (Acknowledgments)
    • Timing: ACK messages should be placed in respective Inbound directories by 4:00 AM PST

HL7 Message Structure: PDF Mailer to HL7 High-Level Mapping (1 of 3)

HL7 Message Structure: PDF Mailer to HL7 High-Level Mapping (2 of 3)

HL7 Message Structure: HL7 Sample Message (3 of 3)

Below is a sample HL7 message for SIS GDSP newborn screening initial negative test results.


Do I need to register at the CDPH HIE Gateway?

If you intend to submit public health data to a state program, you may need to register at the Gateway. Many providers, professionals, and organizations that are required by law or regulation to submit specific health data to public health agencies will need to register. Other Organizations/Sites will need to register in order to submit public health data to qualify for 'Meaningful Use' incentive payments. Types of public health reporting currently available through the Gateway include:

  1. Laboratory results reportable to CalREDIE
  2. Immunization data reporting to CAIR (NorCal, Gr. Sac, Bay, Central Valley, Central Coast, LA-Orange, and Inland Empire regions only)
  3. Cancer cases from ambulatory healthcare providers can be reported to the cancer case registry
  4. Blood lead laboratory test results reportable to CDPH Childhood Lead Poisoning Branch... Coming Soon!

I can't log in. The user name and password I chose do not work.

Please review the following helpful tips to troubleshoot log in issues.

  • Verify that you have clicked the email confirmation link that was sent to you.
  • Check to make sure your user name matches what is listed as user name on your confirmation email.
  • Your password is at least 8 characters in length and includes a special character (e.g. @, #, $, etc.).
  • Check to see if CAPS lock is on; passwords and user names are case sensitive.
  • Try closing your browser, returning to hie.cdph.ca.gov and attempting to log in one more time.

What is the Genetic Disease Screening Program (GDSP)?

Genetic Disease Screening Program of the California Department of Health works to protect and improve the health of all Californians. We run the largest screening program in the world and set the standard in delivering high-quality, cost-effective genetic services to all Californians. The mission of the Genetic Disease Screening Program is “To serve the people of California by reducing the emotional and financial burden of disability and death cause by genetic and congenital disorders.”

The Genetic Disease Screening Program performs the following tasks to support its mission:

  • Screens newborns and pregnant women for genetic and congenital disorders in a cost-effective and clinically effective manner. The screening programs provide testing, follow-up and early diagnosis of disorders to prevent adverse outcomes or minimize the clinical effects.
  • Ensures quality of analytical test results and program services by developing standards and quality assurance procedures, and monitoring compliance with them.
  • Fosters informed participation in its programs in an ethical manner through a combination of patient, professional, and public education, and accurate and up-to-date information and counseling.
  • Provides ongoing critical review, testing, and evaluation of existing programs to ensure that program objectives and goals are being met.
  • Develops programs to adopt new methods and implement new services that further enhance the effectiveness and efficiency of current and future prevention programs.
  • Promotes use of high-quality consumer education materials on genetic disorders, screening for birth defects and genetic services.

What is the Newborn Screening Program?

The Californian Newborn Screening Program is one of the public health programs administered by GDSP that screens all babies for many serious diseases. California has a law that requires that all babies be screened for 80 different diseases. If not found and treated early, many of the diseases can cause serious and permanent health problems, severe developmental delay and even death.

What is the Prenatal Screening Program?

The activities of the California Prenatal Screening Program (PNS) are focused on detecting birth defects during pregnancy. PNS is working to assure prenatal screening services and follow-up diagnostic services, where indicated, are available to all pregnant women in California. The Prenatal Screening Program provides pregnant women with a risk assessment for open neural tube defects (NTD), Down syndrome (trisomy 21), trisomy 18 and SLOS (Smith-Lemli-Opitz Syndrome) through one or two blood tests. The screening test indicates risk, but does not diagnose fetal birth defects. For women with screening results indicating a high risk for a birth defect, the Program provides free follow-up diagnostic services at State-approved Prenatal Diagnosis Centers (PDCs) (PDF). Services offered at these Centers include genetic counseling, ultrasound, and amniocentesis. Participation in the screening testing and follow-up services is voluntary. The cost of the testing through the Prenatal Screening Program is $207.

Who should register with GDSP?

Currently GDSP sends NBS results electronically to Perinatal Licensed Health Facilities (Hospitals or Birthing Centers). All hospitals and birthing centers interested in receiving NBS test results electronically from GDSP are eligible to register.

What is health information exchange (HIE)?

HIE is the electronic movement of health-related information among organizations according to nationally recognized standards. The goal of health information exchange is to facilitate access to and retrieval of clinical data to provide safer, timelier, efficient, effective, equitable, patient-centered care.

What is Health Level 7 (HL7)?

HL7 is a messaging standard that enables clinical applications to exchange health related data; It is a “book of rules” detailing interfacing information that sets forth a framework for negotiating in interfacing.

What happens after enrolling?

A GDSP team member reviews the enrollment information to confirm that the healthcare provider meets the requirements necessary to submit and receive data. If requirements are met, an email is sent out notifying enrollment has been approved and further instructions will be given.

Can I receive NBS results through email?

During the GDSP enrollment process you can choose to receive results through email.

Which Newborn Screening test results are sent by GDSP in the electronic HL7 file or email?

Currently, results for the following NBS tests are sent in the electronic HL7 file or email:

  • Cystic Fibrosis
  • Biotinidase Deficiency
  • Galactosemia
  • Primary Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • MS/MS Acylcarnitine Panel
  • MS/MS Amino Acid Panel
  • Severe Combined Immunodeficiency (SCID)
  • Hemoglobinopathies
  • ALD

Do I still need to register with CDPH and enroll in GDSP if I am a HIE partner that currently shares data electronically with GDSP?

Yes, you will still need to register with CDPH and then enroll with GDSP.

Does enrolling with GDSP meet specific Meaningful Use measure/criteria to qualify for an incentive payment through the Medicare EHR Incentive Program administered by the Centers for Medicare & Medicaid Services (CMS)?

No. Meaningful Use incentive period for GDSP has ended. Providers may continue to enroll to receive electronic NBS results.

HIE Gateway Help
If you have technical questions or problems related to the CDPH HIE Gateway, please call (855) 281-4996 or email HIEHelp@cdph.ca.gov

Genetic Disease Screening Program Specific Support
For queries related to onboarding process for GDSP, or regarding receiving NBS results electronically, please email nbshie@cdph.ca.gov

Resources

Please click on the links below to learn more about GDSP and the programs

Register
Request Help

Need help with your registration?
Just call (855) 281-4996 for support
or e-mail us at HIEHelp@cdph.ca.gov