1. The Impact of Obtaining Documented Informed Consent on MS/MS Screening L.A. Faulkner 1, L.B. Feuchtbaum 2, M. Hanlon 1, F.W. Lorey 2, K. Velazquez 2, and G.C. Cunningham 2 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

2. 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)

3. 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

4. Informed Consent Process

5. Consent Form

7. 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

8. Summary of MS/MS Screening *Excludes PKU

9. Hospital MS/MS Participation

10. 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

11. How Providers Learned GDB Offered MS/MS Screening

12. How Providers Handed Out Educational Materials to Patients

13. 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?

14. 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

15. 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

16. 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)

17. 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.