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

Hospital staff use yes or no stickers

Women choose or decline MS/MS screening

Women get 2nd booklet at hospital

Patients ask questions of providers or 1-800 #

Prenatal care providers educate patients

State educates prenatal care providers

State IRB review

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

Total NBS Specimens 756,000 Unknown MS/MS

360,000 (48%)

No MS/MS 42,000 (6%)

Yes MS/MS 354,000 (47%)

No MS/MS Screening 402,000 (53%)

MS/MS Screening 354,000 (47%)

Detected Cases* 52

Missed Cases* 3

Reported Cases* 12

IEM Registry* 67

*Excludes PKU

Hospital MS/MS Participation

68

56

92

63

20

0

10

20

30

40

50

60

70

80

90

100

0%Participation

1-24%Participation

25-49%Participation

50-74%Participation

75+%Participation

Num

ber o

f Hos

pita

ls

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

13%

10%

56%

13%

8%

NP/PAMidwifeOB/PerinatologistFamily PracticeOther

How Providers Learned GDB Offered MS/MS Screening

26%

26%

34%

12%3%

Just found out from this surveyNBS NewsLetter from GDB

Colleague/TrainingOther

How Providers Handed Out Educational Materials to Patients

29%

9%

44%

17%

To no patients

To patients who ask/other

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% non-

acceptance 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.