1 Initial Survey_CLEAN

OMB Number (0906-0014)

Expiration Date (month/day/year)

INITIAL Survey of the Advisory Committee on Heritable Disorders in Newborns and Children’s Public Health System Assessment

Public Burden Statement: An agency may not conduct or sponsor, and a person is not required to respond to, a collection of information unless it displays a currently valid OMB control number. The OMB control number for this project is 0906-0014. Public reporting burden for this collection of information is estimated to average 10 hours per response, including the time for reviewing instructions, searching existing data sources, and completing and reviewing the collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden, to HRSA Reports Clearance Officer, 5600 Fishers Lane, Room 10C-03I, Rockville, Maryland, 20857.

The purpose of this survey is to inform the Advisory Committee on Heritable Disorders in Newborns and Children (Committee) about states’ ability to add newborn screening (NBS) for [condition x] using information gathered from most of the state and territorial NBS programs in the U.S. Your input will provide valuable information and aid the deliberations of the Committee.

Please refer to the [condition x] screening factsheet to help you answer the following questions about the ability of your state or territory to add screening for [condition x] to your NBS program. Please consult with others, as needed, including laboratory and follow-up staff, medical professionals and specialists, to complete the survey. When unsure about a response, please provide your best estimate. If you were to answer every question, we estimate it will take an average of 10 hours to complete this form.

1. Within the last three years, has your state: (check all that apply)

   • Included [condition x] as part of the routine NBS panel? (end survey)

   • Planned, implemented, or completed any type of pilot study or pilot evaluation for [condition x]? (end survey)

   • Issued a mandate or state-level decision to start screening for [condition x]? (end survey)

   • None of the above (go to question 2)

2. Which of the following entities provide NBS laboratory services for your state’s NBS program? (check all that apply)

   • Your own state’s public health or NBS laboratory

   • A state university laboratory for which there is an intra-state agency agreement

   • A contracted regional NBS laboratory

   • A contracted commercial laboratory

   • Other – please specify: ____________________________________________

NBS programs consider many factors when deciding to add a condition to their NBS panel. The following question asks you to consider, in general, how much the following factors would be an issue when considering adding [condition x] to your NBS panel.

3. Please indicate if the following implementation factors for [condition x] would present a major challenge, a minor challenge, or would not be a challenge, given the current status of the NBS Program in your state.

Factor	Major Challenge	Minor Challenge	Not a Challenge	Comments
Availability of a validated screening test in your state
Ability to conduct short-term follow-up for out-of-range screening results, including tracking and follow-up testing
Identifying specialists in your state (or region) who can treat newborns and children with [condition x]
Availability of treatment for [condition x] in your state
Ability to conduct long-term follow-up for those with late-onset disease or those identified as carriers (if applicable to [condition x])
Increasing your NBS fee
Addressing administrative challenges (please specify in comments section)

4. Please describe any additional overarching challenges. _______________________________________ ______________________________________________________________________________

For questions 5-7 please assume that [condition x] has been authorized for addition to your state’s panel and funds for laboratory testing and follow-up have been made available.

5. The following question considers the various resources needed (e.g. human resources, facilities, etc) by your NBS program in order to implement screening for [condition x].

5.a. Please complete the following table if you answered “your own state’s public health or NBS laboratory” on question #2. If your answer on question #2 was any of the other options, please skip to 5.b.

5.a. Resources Needed	Have Already	Do not have but can get within 1 year	Cannot get within 1 year	Comments
Screening method for [condition x]: [insert screening method(s) here]
A second-tier screening approach for [condition x] (if applicable)
Quantity and type of laboratory equipment needed to screen for [condition x]
Laboratory technical expertise to screen for [condition x]
Sufficient number of technical staff to screen for [condition x]
LIMS capacity and instrumentation interface
Sufficient number of NBS staff to notify and track NBS results
Access to appropriate diagnostic services after an abnormal or out of range screening result is reported (e.g., diagnostic testing, clinical evaluations)
Genetic counselors, or other staff with the necessary expertise, to cover the expected caseload, including reporting carrier status (if applicable)
Specialists to cover expected [condition x] caseload
Treatment centers for expected [condition x] caseload
Follow-up protocols for [condition x] cases and carriers

SKIP PATTERN (respondents fill out either 5.a.or 5.b., but not both)

5.b. Please complete the following table if you answered “a state university laboratory for which there is an intra-state agency agreement”, “a contracted regional NBS laboratory”, “a contracted commercial laboratory”, or “other – please specify” on question #2.

5.b. Resources Needed	Have Already	Do not have but can get within 1 year	Cannot get within 1 year	Comments
Availability of the screening test in the state university laboratory for which there is an intra-state agency agreement, or contracted regional laboratory, or commercial laboratory
Availability of a second-tier screening approach for [condition x] (if applicable)
LIMS capacity and instrumentation interface
Sufficient number of NBS staff to notify and track NBS results
Access to appropriate diagnostic services after an abnormal or out of range screening result is reported (e.g., diagnostic testing, clinical evaluations)
Genetic counselors, or other staff with the necessary expertise, to cover the expected caseload, including reporting carrier status (if applicable)
Specialists to cover expected [condition x] caseload
Treatment centers for expected [condition x] caseload
Follow-up protocols for [condition x] cases and carriers

6. Please indicate the degree* to which these factors impede or facilitate your ability to adopt screening for [condition x] in your state.

Factor	Major Barrier	Minor Barrier	Minor Facilitator	Major Facilitator	Not Applicable
Predicted run time to screen for [condition x] as it relates to other workload
Extent to which the screening test for [condition x] can be multiplexed with screening for other conditions
Other ongoing NBS program activities (e.g., addition of other conditions, other quality improvements)
Estimated cost per specimen to conduct screening (personnel, equipment, reagents)
Estimated cost of treatment for newborns diagnosed with [condition x]
Expected clinical outcomes of newborns identified by screening
Expected cost-benefit of screening in your state
Advocacy for screening for this [condition x]
Other non-NBS public health priorities within your state

*Major barrier- Will prevent testing from being implemented effectively and/or timely.

*Minor barrier- May compromise testing so it is not performed effectively and/or timely.

*Minor facilitator- May allow testing to be done effectively and/or timely.

*Major facilitator- Will allow testing to be done effectively and/or timely.

7. Please describe any additional factors that impede or facilitate adoption of screening for [condition x] in your state. __________________________________________________________________________________

8a. What are the most significant barrier(s) to screening for [condition x] in your state?

8b. What would most facilitate screening for [condition x] in your state?

9. Please estimate the time it would take your NBS program to initiate screening for [condition x] in your state (i.e. get authority and funds to screen for [condition x], go through administrative processes, meet with your state NBS committees and complete all activities needed to implement and commence screening for all newborns in your state)?

• 12 months or less

• 13 to 24 months

• 25 to 36 months

• 37 to 48 months

• More than 48 months

10. The question above related to the overall timeline. We recognize some of the activities happen in tandem and some cannot begin until a previous activity has been completed. Please estimate the total time needed, in general, for each individual activity listed below within your NBS program. If needed, please consult with laboratory and follow-up staff, medical professionals and specialists, prior to completing the survey.

Activity	12 months or less	13 – 24 months	25 – 36 months	37 to 48 months	> 48 months	Not Applicable	Comment
Obtain authorization to screen for [condition x]
Availability of funds to implement screening for [condition x]
Meet with Advisory committees and other stakeholders
Obtain and procure equipment for screening for [condition x]
Hire necessary laboratory and follow-up staff
Select, develop, and validate the screening test within your laboratory IF you are NOT multiplexing
Select, develop, and validate the screening test within your laboratory IF you ARE multiplexing
Develop a screening algorithm, follow-up protocols, and train follow up staff
Set up reporting and results systems for added condition (e.g., LIMS)
Collaborate with specialists and clinicians in the community to determine which diagnostic tests will be recommended upon identification of an out of range NBS result
Add the screening test to the existing outside laboratory contract
Conduct an internal validation study for [condition x]
Pilot test the screening process within your state, after validation has taken place
Implement statewide screening for all newborns, including full reporting and follow-up of abnormal screens after validation and pilot testing

.

11. (If applicable to [condition x]) Which of the following best describes the type of screening approach or assay your program would choose for [condition x]:

• Screening approach will detect carriers and we must incorporate follow-up of those cases into our algorithm

• Screening approach will not detect carriers

• Screening approach not yet determined

12. Are there any special considerations regarding [condition x] that need to be taken into account when assessing the impact on the public health system? (e.g. variants of unknown significance, pseudodeficiencies, age of onset, access to specialists, access to treatment, cost of treatment, etc) Please describe: ___________________________________________________________________________________

13. Please share any additional information regarding implementation of NBS for [condition x].

___________________________________________________________________________________

14. Please provide information about the respondent:

Name:

Phone number:

Email address:

Job title:

15. Who did you consult with to answer these questions? Please check all that apply.

• State NBS laboratory experts

• Other NBS program staff

• State NBS advisory board

• State Title V Director

• [Condition x] Specialists

• Primary care providers

• Advocates within your state for [condition x] screening

• Others- please specify: ______________________

• None of the above

Thank you for completing the survey!

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