Sharon F. Terry, MA President & CEO, Genetic Alliance Founding CEO, PXE International

1. The Pubic Wants to Know: A Recent Survey of Women about Attitudes on Newborn Screening  World Congress on Disabilities November 19, 2010 Dallas, TX Sharon F. Terry, MA President & CEO, Genetic Alliance Founding CEO, PXE International

2. Elizabeth and Ian diagnosed with a genetic condition 1994 2009

3. Gene Discovery BioBank Testing Clinical Diagnostic Test Development via FDA & CLIA Regulatory Strategies Human Clinical Trials Drug Screening & Development Approaches Patenting Licensing & Intellectual Property Management Therapeutics --Small Molecules --Nonsense mutants

4. Network of more than 10,000 organizations, 1200 advocacy organizations (Founded 1986) Connected Consumers using Smart Services

5. All 50 states, and many other countries Small amount of blood to screen for between 14 and 54+ conditions Educational resources available for families What is Newborn Screening?

6. Recent and prospective mothers’ attitudes and preferences regarding newborn genetic screening: a survey of 2,266 U.S. women Conducted with Joan A. Scott, M.S., C.G.C., Director, Genetics & Public Policy Center, Johns Hopkins University, & Natasha Bonhomme, Genetic Alliance

7. Goals of Newborn Screening Survey • Measure knowledge & understanding • Assess information needs & preferences • Assess support • Test whether severity of disease, age of onset, and positive predictive value of the test influence support

8. Survey Methods • Conducted online • National, random sample (N=2,266) • Women age 18-45 • who gave birth in the past 3 years (N=1,258) • who plan to have biological child in the next 3 years (N=1,008) • 46 questions asked of both groups • Sources of information on pregnancy and early childhood • General awareness and knowledge • Definition of NBS • Attitudes • Information preferences • Randomized to view one of four testing scenarios • Recent mothers asked about experience

9. Awareness • Information preferences

10. Nearly two-thirds of prospective mothers and one-third of recent mothers had not heard of NBS ‘Before today had you heard of newborn screening?’ prospective mothers yes no not sure recent mothers

11. Awareness of NBS, by Demographic Group ‘Before today had you heard of newborn screening?’ (% who said yes)

12. How much information would you want to get on the following topics? % who said ‘A lot’

13. How would you prefer to get information about NBS ?

14. When would you first want to get information about NBS?

15. When recent mothers wanted to get first info on NBS: When recent mothers actually got first info on NBS: Women are getting info on NBS later than they would like When planning pregnancy 1st prenatal visit 2nd or 3rd trimester In hospital/at birth Only if there is a problem

16. As best you can remember, how did you receive info about NBS? (recent mothers)

17. Recent mothers “Which of the following best describes the information you got about newborn screening during your pregnancy?”

18. Recent Mother’s Understanding ‘From the information you received during your last pregnancy about NBS how would you rate your understanding of NBS?’ 2 good basic very little virtually none

19. Support

20. After being providing a definition of NBS, women expressed wide support for it.

21. Importance of NBS NBS is important…. % who Agree or Strongly Agree

22. The greatest concern was about the accuracy of test results

23. Interest in NBS for adult onset diseases and traits % who would want baby screened “Someday it may be possible to screen newborns for certain traits or conditions that may develop later in life. Assuming you had a baby today, which of the following traits would you want your baby to be screened for?” Recent mothers Prospective mothers

24. Effect of severity of disease, age of onset, and positive predictive value (PPV) of the test on support

25. Each person randomized to one of four versions of a fictional, unnamed disease: First, imagine there is a rare genetic disease in which: Age of onset: “symptoms start to appear between 3 and 5 years” or “symptoms start to appear between 12 and 15 years of age” Severity: “There is no cure, eventually the disease causes death” or “There is no cure, the disease continues to get worse with age”

26. Each person randomized to one of four versions of a fictional, unnamed, incurable, rare genetic disease: • ….for every 10 babies that have an abnormal screen, only 9 of them actually have the condition... • …imagine instead…for every 10 babies…only 6 actually have the condition… A newborn screening test for the disease is developed….

27. Effects severity, age of onset, and PPV on support for screening • In both groups, significantly higher support when test had higher PPVin both groups of women ( 10% difference, p=4x10-7) • In prospective mothers, severity and age of onset not associated with support • Recent mothers were more likely to support screening for a severe disease with early age of onset (83%) than a disease with either late onset or lower severity (71%, p= 0.003).

28. Use of test with a higher PPV was favored Scenario (recent mothers) Early Age of Onset Fatal Disease 90% Positive Predictive value % Who Agree All Newborns Should be Screened X X X X X 83 X X 74 X X X X X X X 73 71 70 63 51 58 N= 1,258 Weighted. GPPC 2009

29. Conclusions • NBS is viewed very positively • Women want information on NBS • Want information earlier than they are receiving it • Accurate information is highly valued • Worry about inaccuracy • Support increases with PPV, though majorities supported all scenarios • Majorities interested in testing for adult onset diseases

30. Study Limitations • What people say in a survey does not always correspond to what they will do • Based on recall in recent mothers • Required English literacy • High income and education – adjusted or stratified analyses

31. Resources for Families and Clinicians • National Newborn Screening Clearinghouse: • http://www.nbsclearinghouse.org • Text4Babies • http://www.text4baby.org/ • Text 511411 • Disease InfoSearch • http://www.geneticalliance.org/diseaseinfosearch

32. Thanks to: Genetics and Public Policy Center • David Kaufman Genetic Alliance • Natasha Bonhomme • Sharon Terry U. of Maryland • Carol Greene • Mimi Blitzer HRSA • Penny Kyler Consumer Task Force Funded by HRSA Grant Award No 1 U33MC07951-01-00