Appendix D

Newborn Screening Results Reporting Protocols for Sickle Cell Disease and Sickle Cell Trait

Background: The Association of Public Health Laboratories (APHL) received a data request from the National Academies of Sciences, Engineering, and Medicine’s Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action Project—specifically on information on how newborn screening (NBS) programs report screening results for sickle cell disease (SCD) and sickle cell trait (SCT) (i.e., follow-up processes).

Methods: APHL’s Newborn Screening and Genetics Program in collaboration with the National Academies SCD committee developed a short survey that would gather information and provide an understanding of what occurs in SCD and SCT NBS results reporting. APHL distributed a PDF version of the survey to six state NBS program representatives (Colorado, Connecticut, Florida, New Jersey, Tennessee, and Washington) of the APHL Hemoglobinopathy Laboratory Workgroup on September 10, 2019. Respondents were asked to review the questions and provide availability for a phone call with APHL staff to answer the survey questions verbally on September 13, 2019.

Results: All six respondents provided answers (five via telephone and one via e-mail). In accordance with APHL’s Data Access and Sharing policy, the reports and findings related to the survey will only be released in aggregate without individual identifiers.

Sickle Cell Disease (SCD) NBS Results Reporting

• All six NBS programs have a standardized protocol (written and formal versus informal) for informing parents of their children’s SCD status and have a required turnaround time to communicate results.
• The turnaround time for communicating NBS SCD results ranges from 24 hours to a few weeks.
• Communicating SCD results vary in protocol as noted by each NBS program.
• Approximately 98–100 percent of babies who screen positive receive follow-up in 1 year.

Sickle Cell Trait (SCT) NBS Results Reporting

• All six NBS programs have a standardized protocol for informing parents of their children’s SCT status and five NBS programs have a required turnaround time to communicate results.
• The turnaround time for communicating NBS SCT results ranges from 1 week to 6 weeks.
• Communicating SCT results vary in protocol as noted by each NBS program.
• The five NBS programs that have a follow-up protocol for SCT are not able to provide the percent of newborns who screen positive for SCT and receive follow-up in 1 year. The five NBS programs distribute letters to parents and/or primary care providers and the NBS program does not get additional information after this.
• One state NBS program provides SCT results to any university or organization that reaches out if properly authorized.

Survey: Newborn Screening Results Reporting Protocols for Sickle Cell Disease and Trait Survey

APHL received a data request from the National Academies SCD committee specifically on information on how NBS programs report screening results for SCD and SCT (i.e., follow-up processes). The purpose of the survey is to gather the requested information. Your participation is vital to providing an understanding of what occurs in results reporting. In accordance with APHL’s Data Access and Sharing policy, the reports and findings related to this survey will be released only in aggregate data form without individual identifiers. Thank you for considering this opportunity to make a meaningful contribution.

1. Please tell us who you are:
   • First Name, Last Name
   • Title
   • Phone number, e-mail address

Sickle Cell Disease (SCD):

2. Does your NBS program have a standardized protocol for informing parents of their children’s SCD status?
   1. No
   2. Yes
      • If yes, can you share it or point us to it?
3. Is there a required turnaround time for communicating results?
   1. No
   2. Yes
4. What is the average time of returning results?
5. What are the procedures for follow-up once parents have been notified?
6. What percent of babies who screen positive subsequently receive follow-up in 1 year?

Sickle Cell Trait (SCT):

7. Does your NBS program have a standardized protocol for informing parents of their children’s SCT status?
   1. No
   2. Yes
      • If yes, can you share it or point us to it?
8. Is there a required turnaround time for communicating results?
   1. No
   2. Yes
9. What is the average time of returning results?
10. What are the procedures for follow-up once parents have been notified?
11. What percent of babies who screen positive subsequently receive follow-up in 1 year?
12. Does your state work with any universities or other organizations to provide SCT screening results for specific groups such as athletes?
    1. No
    2. Yes
       • If yes, please explain.

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