The Impact of Obtaining
Documented Informed Consent
on MS/MS Screening
L.A. Faulkner1, L.B. Feuchtbaum2, M.
Hanlon1, F.W. Lorey2, K. Velazquez2, and
G.C. Cunningham2
Funded by Health Resources and Services Administration grant #5 H46 MC00199-03
1 Public Health Institute, 2 Genetic Disease Branch (GDB), California Department of Health Services
Purpose of Research
To assess the impact of obtaining
documented informed consent on
participation & informed decision-making
during population-based newborn screening
for inborn errors of metabolism (IEM) using
tandem mass spectrometry (MS/MS)
Introduction to Newborn
Screening in California
• Mandatory newborn screening (NBS) program
allows refusal for religious reasons only
• 18 month supplemental screening research
project required written informed consent to
ensure voluntary MS/MS screening
Informed Consent Process
State IRB review
State educates prenatal care providers
Prenatal care providers educate patients
Patients ask questions of providers or 1-800 #
Women get 2nd booklet at hospital
Women choose or decline MS/MS screening
Hospital staff use yes or no stickers
Consent Form
Overview of Methods
• Tracked uptake of MS/MS screening in
prospective cohort by hospital
• Surveyed prenatal care providers by mail
• Conducted 5 focus groups with 31 pregnant
women
Summary of MS/MS Screening
Unknown MS/MS
360,000 (48%)
No MS/MS
42,000 (6%)
No MS/MS Screening
402,000 (53%)
Reported Cases*
12
Total NBS Specimens
756,000
Yes MS/MS
354,000 (47%)
MS/MS Screening
354,000 (47%)
Detected Cases*
52
IEM Registry*
67
*Excludes PKU
Missed Cases*
3
Hospital MS/MS Participation
100
92
Number of Hospitals
90
80
70
68
63
60
56
50
40
30
20
20
10
0
0%
Participation
1-24%
Participation
25-49%
Participation
50-74%
Participation
75+%
Participation
Prenatal Care Provider Survey
• Mailed 12 question survey to 6200 providers
• Questions asked about knowledge & experience
• 700 surveys returned for 11% response rate as shown
10%
13%
NP/PA
M idwife
8%
OB/Perinatologist
56%
13%
Family Practice
Other
How Providers Learned GDB
Offered MS/MS Screening
3%
12%
26%
Just found out from this survey
NBS News
34%
Letter from GDB
Colleague/Training
26%
Other
How Providers Handed Out
Educational Materials to Patients
17%
29%
To no patients
To patients who ask/other
9%
44%
In packet
Hand out & answer questions
Focus Group Questions
• Introductions?
• How many received IIP
booklet?
• What do you think of it?
• Advantages/Concerns?
• Feelings about making
the decision?
• What information do
you think should be in
the IIP booklet?
• What information is
most important?
• What would influence
you to not have test?
• How else would you like
to receive this info?
• Importance of choosing
to participate?
• What should the State
address before making
it mandatory?
What Participants Told Us
•
•
•
•
•
•
•
Benefits and risks not understood
Importance of testing not conveyed
Purpose of research not obvious
Didn’t hear from prenatal provider but want to
Choice is important, but not to all
Don’t overwhelm with dense or confusing text
Provide more information in their words
Burdens of Informed Consent
• Increased time and effort for Genetic Disease
Branch, State IRB, and hospitals
• Reduced population screened
– 354,000 for MS/MS vs. 756,000 mandatory NBS
– <1% refusal in mandatory NBS vs. 10 – 50% nonacceptance in MS/MS
– 52 diagnosed disorders in screened population vs.
12 (59 expected) in non-screened population
• Didn’t meet parents’ needs
Recommendations for
Population-based Research
• Obtain waiver of informed consent, if possible, by
demonstrating:
–
–
–
–
Minimal risk to participants
Participant rights not adversely affected
Informed consent is impractical
Educational materials still provided
• Improve educational materials, especially by using
parents’ words
• Reduce barriers for prenatal care providers (e.g.
combine prenatal and newborn screening materials)
More Details About
Evaluation Study Available
Visit our web-site
www.CaliforniaMsMs.org
Special thanks to all staff at the Genetic Disease Branch,
California providers, patients and contract staff.