Form 1B InitialSurvey_REVISED_TrackedChanges 0014

OMB Number (0906-0014)
Expiration Date (09/30/2018)

INITIAL Survey of the Secretary’s 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 XX 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 Secretary of Health and Human Services Discretionary Advisory
Committee on Heritable Disorders in Newborns and Children (Committee) (ACHDNC) about states’ ability to
add newborn screening (NBS) for [condition x]new conditions using information gathered from most of the
state and territorial NBS programs states 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 NBSscreening for [condition x] into your NBS program. You have received this
survey on behalf of your state. newborn screening program If you are not the correct person to complete
and return this form, please ensure that the correct person obtains it. Please consult with others, as needed,
from your NBS programWe expect that whoever leads the effort to respond to this survey will need to consult
with others within your state, including laboratory and follow-up staff, medical professionals and specialists,
prior to completeing the survey. When unsure about a response, please provide your best estimate. If you
were to answer every question, WweAs such, we are estimatinge are estimating that it will take each state an
average of 10-person hours to complete this form.

1. A. Does your state NBS screening panel currently include condition x NBS?
o Yes (end survey)
o No
1B. Are you currently involved with any pilot evaluation activities, i.e., research or pre-live reporting results?
o Yes: Please describe.
o No
2.1.

Within the last three years, has your state: included…(Please check all that apply).
o Included C[condition x[ as part of the routine NBS panel? (end survey)
o Planninged, conductedimplemented, or completed Condition x as any type of pilot study or pilot
evaluation for [condition x]? (end survey)
o Issued a mandate or state-level decision to start screening for [condition x]? (end survey)
o None of the above (go to question 23)

3. Has there been a state-level decision to start screening for condition x as part of NBS?
o Yes (end survey)
o No
4. Which of the following provides NBS laboratory services for your state’s NBS program? Please check all
that apply.
o Your own state’s public health or NBS laboratory
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o
o
o
o

A contracted regional NBS laboratory or other not-for profit laboratory
A contracted commercial laboratory
Other – please specify:
None of the above

2. Which of the following entities provide NBS laboratory services for your state’s NBS program? (check all
that apply).
o Your own state’s public health or NBS laboratory
o A state university laboratory for which there is an intra-state agency agreement
o A contracted regional NBS laboratory
o A contracted commercial laboratory
o 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 in considering
adding [condition x] to your NBS panel.
3. Please categorize indicate if the funding following implementation challenges factors related to NBS
program activities for [condition x] in your statewould present aas mMajor challenge, a mMajor, Mminor
challenge, or would not be a challenge, given the current status of the NBS Program in your state.
not a challenge. Please see definitions below.*Not a Challenge using the following ratings:.
Major Challenge = NBS program needs 3 or more years to resolve.
Minor Challenge = NBS program needs 1-3 years to resolve.
Not a Challenge = NBS program needs less than 1 year to resolve.

ActivityFactor
Availability of a validated screening test in your state
Providing the screening test
Ability to conduct Sshort-term follow-up for of abnormal out of
range screening testsresults, including tracking and follow-up
testing
Identifying Support to specialists in your state (or region) who
can treat newborns and children with for [condition x]
Treatment Aavailability of treatment Support to treatment for
[condition x] in your state
Ability to conduct lLong-term follow-up for those with lateonset disease or who those identified asare carriers (if
applicable to [condition x])

Major
Challenge

Minor
Challenge

Not a
Challenge

Comments

Increasing your NBS fee/other administrative challenges
Addressing administrative challenges (please specify in
comments section)
*Major Challenge = NBS program needs 3 or more years to resolve.
Minor Challenge = NBS program needs 1-3 years to resolve.
Not a Challenge = NBS program needs less than 1 year to resolve.

5a. 4. Please describe any additional overarching challenges.
_________________________________________________________________________________
5. Which of the following best describes the type of screening approach or assay your program would
choose for condition x:
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Screening approach will detect carriers and we must plan for that incorporate follow- up of those cases
into our algorithm
Screening approach will not detect carriers
Screening approach not yet determined
For questions 65-78 please assume that [condition x] has been authorized for addition to your state’s panel
and that funds for laboratory testing and follow- up have been made available.
a65a. Other than funding, certain factors related to condition x might make screening easier or more
challenging in your state. Please let us knowThe following question considers the various resources needed
(e.g. human resources, facilities, etc) by your NBS program in order ’s readiness to implement screening for
[condition x]. by evaluating the following resourcesthe degree to which these factors impede or facilitate your
ability to screen for condition x in your state. In order to respond to these questions, assume that condition x
has been authorized for addition to your state’s panel and that funds for both laboratory testing and follow-up
are made available. If needed, please speak with your NBS laboratory to help assist with the answers.
If funding was made available, based on your state’s current NBS infrastructure, to what extent do the factors
below impede or facilitate the adoption of screening for condition x in your state?
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 NeededFactorFactor

Do not
have
and
canno
t get
within
1yearH
ave
Already

Do not
have
but
could
can
get
within
1 year

No Impact

Have but
needs
Improvem
ent

Have and
no
improvem
ent
needed
Cannot
get within
1 year

Comments

SScreening approach for condition x
method for [condition x]: [insert
(namescreening method(s) here]
A second-tier screening approach for
[condition x] (if applicable)
If you selected “your own state’s public
health or NBS laboratory” for Question
2: Quantity and type of lLaboratory
equipment needed to screen
specimens for [condition x] using flow
injection MS/MS* (please describe
equipment needed in comments
section)
Laboratory equipment needed to
screen specimens for [condition x]
using digital fluorometry*
Laboratory technical expertise to
screen for condition x *
Laboratory technical expertise to
screen for [condition x]
Sufficient nNumber of technical staff
within your laboratory to screen for
[condition x] *

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If you selected “A contracted regional
NBS laboratory or other not-for profit
laboratory” or “A contracted
commercial laboratory” at Question 2:
Availability of the screening test in your
contracted laboratory~
Onsite genotyping as part of a secondtier test
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 presumptive positive from
ascreening 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)
Availability of Sspecialists to cover
expected [condition x]
caseloadspecialists
Treatment centers for expected
[condition x] case loadAvailability of
treatment for those diagnosed through
NBS
Follow- up protocols for [condition x]
cases and carriers
* Please respond to these factors if you selected “Your own state’s public health or NBS laboratory” at question 4.

NOTE SKIP PATTERN (respondents will fill out either 5.a.or 5.b., but not both)
~ Please respond to this factor if you selected “A contracted regional NBS laboratory or other not-for profit laboratory” or “A contracted commercial
laboratory” at question 4.

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

Have
Already

Do not
have
but
can
get
within
1 year

No Impact

Have but
needs
Improvem
ent

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.

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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

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67bb6. Other than funding, certain factors related to condition x might make screening easier or more
challenging in your state. Please let us know indicate the degree* to which these factors impede or facilitate
your ability to adopt screeningscreen for [condition x] in your state. In order to respond to these questions,
assume that condition x has been authorized for addition to your state’s panel and that funds for both
laboratory testing and follow-up are made available. Please refer to the webinar recording that provides
background on condition x. If needed, please consult with laboratory and follow-up staff, medical professionals
and specialists, prior to completing the survey.
If funding was made available, to what extent do the factors below impede or facilitate the adoption of
screening for condition x in your state?
Factor

Will hinder
implementation
Major Barrier

May hinder
implementation
Minor Barrier

No
Imp
act

May aid in
implementation
Minor
Facilitator

Will aid in
implementation
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)
Extent to which
screening
protocol for
condition x has
been
demonstrated in
other NBS
programs
Estimated Ccost
per specimen to
conduct
screening
(personnel,
equipment,
reagents)
Estimated cCost
of treatment for
newborns
diagnosed with
[condition
x]NBS

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Comments

OMB Number (0906-0014)
Expiration Date (09/30/2018)
Expected
clinical
outcomes of
newborns
identified by
screening
Expected costbenefit 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.

6b816b17. Please describe any additional factors that impede or facilitate adoption of screening for [condition
x] in your state.

96c8a. What is are the most significant barrier(s) to screening NBS for [condition x] in your state?

106d8b. What would most facilitate screening for NBS [condition x] in your state?
11.

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9. If condition x was added to the RUSP tomorrow, about how long would it take in total to initiate
screening for condition x in your state (consider the total amount of time from initial interest in screening
for condition x to screening every newborn born in your state for condition x 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 disordercondition x, go through administrative processes, meet with your state NBS
committees and complete all activities need to implementation activities and commence screening for
all newborns in your state in order to begin screening (entire process))?
o
o
o
o
o

12 months or less
13 to 24 months
25 to 36 months
37 to 48 months
More than 48 months

1210. The question above related to the overall timeline. The table below is intended toasks identify about
Hhow long would it would take to achieve specific activities onwithin the overarching 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 of the activityies listed below within your
NBS program. the following assuming that condition x was added to your state NBS panel and funds were
allocated today, with your current NBS program and laboratory infrastructure? If needed, please consult with
laboratory and follow-up staff, medical professionals and specialists, prior to completing the survey.

Activity

One year or
less12 months
or less

Years13
– 24
months

25 – 36
months
2-3
years

37 to 48
months

>3
years48
months

Not
Applicable
Comment

Obtain authorization to screen
for condition x in your state?
Get Once you received
authorization to screen, about
how long would it take to have
Availability of funds available to
implement screening for
condition x
Meet with Advisory committees
and other stakeholdersOnce
funds are available, about how
long would it take to complete
start-up implementation
activities (e.g., laboratory
validation, reporting systems,
and training for follow up) in
order to be ready to begin
screening for condition x?
Conduct a pilot/preliminary
screening
Obtain and procure
equipment for screening for
[condition x]
Hire necessary laboratory
and follow-up staff
Consult with medical staff and
specialists
Select, develop, and validate
the screening test within your

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laboratory IF you are NOT
multiplexing
Select, develop, and validate
the screening test within your
laboratory IF you ARE
multiplexing
Develop a screening
algorithm,m and 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
Entire process from obtaining
equipment to implementing
statewide screening (assuming
that some activities may occur
simultaneously)
**~Please respond to this activity if you selected “A contracted regional NBS laboratory or other not-for profit laboratory” or “A contracted commercial
laboratory” at question 4.

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]:
o Screening approach will detect carriers and we must incorporate follow-up of those cases into our
algorithm
o Screening approach will not detect carriers
o Screening approach not yet determined
1312. 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. will it be possible to identify carriers for condition x
and how will your state approach carrier status)? (e.g. variants of unknown significance, pseudodeficiencies,
age of onset, access to specialists, access to treatment, cost of treatment, etc) Please describe:
_______________________________________________________________________________
1410. 13. Please share any additional information regarding implementation of NBS for [condition x].
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_____________________________________________________________________________________
514. Please provide information about the respondent:
Name:
Phone number:
Email address:
Job title:
16How long have you had this position?
< 1 year
1-3 years
4-6 years
7-9
More than 10 years
157. Who did you consult with to answer these questions? Please check all that apply.
o State NBS laboratory experts
o Other NBS program staff
o State NBS advisory board
o State Title V Director
o [Condition x] Specialists
o Primary care providers
o Advocates within your state for [condition x] screening
o Others- please specify: ______________________
o None of the above

Thank you for completing the survey!

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