Description of Connecticut’s Population

1. Factors That Influence Provider Discussion of Genetic Testing in Families of Infants withHearing LossDonna C. Maselli, RN, MPHConnecticut Department of Public HealthHartford, CT

2. Faculty Disclosure InformationIn the past 12 months, I have not had a significant financial interest or other relationship with the manufacturer(s) of the product(s) or provider(s) of the service(s) that will be discussed in my presentation.This presentation will (not) include discussion of pharmaceuticals or devices that have not been approved by the FDA or if you will be discussing unapproved or “off-label” uses of pharmaceuticals or devices.

3. Description of Connecticut’s Population • 18.3% Speaks a language other than English • 10% of CT’s children are uninsured • 17% of CT’s children live in families below the FPL (National rates of 23%) • 7% White • 28% Black • 32% Hispanic • 6% “Other”

4. Healthy People 2010 Goal: Eliminate health disparities, including differences by gender, race or ethnicity, education or income, disability, geographic location, or sexual orientation

5. Health Disparities • Racial and ethnic minorities experience • Higher rates of morbidity and mortality than whites • A lower quality of health services (At equivalent levels of access) • Less likely than white Americans to receive even routine medical procedures Source: Ayanian, Weissman, Chassam-Taber, Epstein, 1999

6. Connecticut’s Universal Newborn Hearing Screening program • Implemented statewide in July 2000 • Legislatively Mandated as a “Standard of care” • Guidelines for screening, diagnosis, early intervention

7. Introduction • Hearing loss is the most common occurring congenital disorder • GJB2 or Connexin defects are responsible for more than one-half of the genetic causes of profound deafness in the United States

8. Categorizing Hearing Loss • Type • Portion of hearing system affected: Sensorineural, Conductive , Mixed • Genetic or Environmental • Hereditary or acquired • Association with a syndrome • Nonsyndromic • 70% of PCHL cases associated with genetic factors are not associated with a syndrome • Syndromic • 30% are associated with a syndrome

9. The Genetic Evaluation • Comprehensive family history • Evaluates inheritance patterns • Orders and interprets the genetic tests • Obtains GJB2 or Connexin 26 mutation screening by sequence analysis • A negative test does not rule out a genetic etiology, but a positive test confirms the cause and eliminates the need for further expensive and possibly more invasive tests • Performs clinical evaluation

10. Benefits of Genetic Testing • Assists in establishing etiological diagnosis • Alleviate parental guilt • Reduce the incidence and/or morbidity • Identify potential of risk of aminoglycoside ototoxicity • Guides treatment and follow-up options

11. Study Outline An assessment of factors that influence a provider’s discussion of a genetic referral with families of infants with hearing loss. • Existing policies • Provider knowledge of policies • Mechanism for referral for genetic testing • Education • Availability of genetic educational materials for families • Educational level of the family • Provider education related to genetics • Insurance status of the family

12. Why the Pediatric Health Provider? • First contact after hospital discharge • Assures follow-up on infants who do not pass hearing screen • Promotes health through assessment, treatment and referral • Family health education

13. Purpose of Study • Ascertain if statewide policies are needed to include a genetics evaluation as a part of the infant’s post-diagnostic evaluation • Determine whether culturally sensitive andlinguistically appropriate genetic educational materials are available for families • Examine whether healthcare professionals have adequate training related to genetics to facilitate discussion with all families, when indicated • Identify barriers to provider discussion

14. National Level • ACMG supports a genetic evaluation as part of an infant’s post-diagnostic evaluation • Evidenced by 2002 position statement for 'Genetic Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss' • Supported by: • American Academy of Pediatrics • Centers for Disease Control and Prevention • National Institutes for Health • Maternal and Child Health Bureau • Joint Committee on Infant Hearing

15. State Policies • Connecticut General Statutes, Section 19a-59 (b)(3) in part “The Department of Public Health shall inform the responsible party of resources available to them for further testing and treatment, including rehabilitation services for such infants…” • The Department of Public Health developed regulations related to infant hearing screening, diagnostics and the referral to early intervention • State regulations do not include a recommendation for a genetic evaluation as part of the management and evaluation of hearing loss

16. Statement of the ProblemPolicies • National organizations support a genetic evaluation for infants with hearing loss • Genetic referral not included in CT UNHS guidelines

17. Statement of ProblemEducational Materials • Internet information • May not be accessible to families, • May lack validity (i.e. personal home pages) • Complex medical concept • 1992 National Adult Literacy Survey • One-quarter of the population, are functionally illiterate • Average adult reads at an eighth-grade level • Recommends health education material a fifth-grade level or lower

18. Statement of ProblemProvider Education • PCP is an integral part of the infant’s medical home • Access and coordination • Specialty care • Educational services • Family support • Other public and private community services • Should have knowledge about the principles of medical genetics in order to provide adequate family education, and care coordination

19. Study Methodology • Identified key sources for data collection • Pediatric Health Providers • Regional Genetic Treatment Centers • State Department of Public Health policies • Methods of data collection (Qualitative & Quantitative) • Literature reviews • Surveyed pediatric health providers • State policy review • Internet searches • Interviews with Genetic Treatment Center Clinical staff

20. Instrumentation • Self-administered survey questionnaire • Limited instrumentation available to adequately measure the specific assessment questions • Survey tool was developed by the investigator • Content validity • Reviewed by one physician with clinical expertise in genetics • Survey instrument not piloted

21. Dissemination • Goal was to disseminate 100 self-administered surveys to pediatricians and receive a 50% response rate • Surveys were e-mailed to Newborn Nursery Nurse Managers at 31 birth hospitals • Provided a sampling of responses from providers in rural settings and inner cities • Asked to disseminate the surveys to the first three to four consecutive pediatricians who visited their unit • Provided feedback as to the actual number of surveys they distributed

22. Cover Letter • Accompanied the survey • Identified the purpose • Length of time to complete • Informed • Participation was voluntary • Return of the questionnaire implied consent to participate in the study • They may elect not to answer some questions • Assured anonymity • How to review study results • How and when to return survey • Follow-up e-mail to the 31 Nurse Managers • One week after the original questionnaire was sent • Thanking them for their assistance in disseminating the surveys • Encouraging those who had not yet distributed the surveys to do so • No incentives used

23. Response Rate • A total of 91 surveys were distributed • 40 were returned • Yielded a 44% response rate

24. The Survey Tool • Consisted of 14 questions with dichotomous, multiple choice, and open-ended questions • Questions designed to measure PCP’s attitudes, beliefs, subjective norms, and self-efficacy related to: • Knowledge of existing state policies • Education & training • Insurance status of family

25. Data Analysis • Analyzed using SPSS, version 12.0 • Survey questions and all possible responses were entered into the database • All variables labeled and coded • Results analyzed using frequency distributions and crosstabulations • Categorized by: • Policy • Education • Insurance

26. Provider Knowledge of Policy Purpose: To evaluate provider knowledge of existing state regulations Survey Questions: • Did you know that all infants are screened for hearing loss at birth? 2. Do you confirm that the hearing screening at birth was conducted during the initial well-baby visit? 3. Where would you refer an infant who did not pass the hearing screening for follow-up audiological testing? 4. Have you had an infant or child under the age of 5 years old diagnosed with a hearing loss in your practice? 5. How likely would it be that you would make a referral to any of the following specialists for an infant with hearing loss: Cardiologist, Otolaryngologist, Ophthalmologist, Endocrinologist, Nephrologist, or Geneticist.

27. Knowledge of State UNHS Policies (N=40) Table 1 Question Frequency Percentage Knowledge of Universal Screening Before Discharge Yes 39 97.5 No 1 2.5 Confirm Hearing Screening Conducted Yes 38 95 No 2 5 Infant with Hearing Loss in Practice Yes 34 85 No 4 10 Not Sure 2 5 Referral to Diagnostic Center Yes 38 95 No 2 5

28. Specialist Very Likely Likely Not Likely Definitely Not Freq. % Freq. % Freq. % Freq. % Cardiac 1 2.5 7 17.5 26 65 6 15 Ophthal. 2 5 5 12.5 30 75 3 7.5 ENT 26 65 9 22.5 5 12.5 - - Endocrine - - 5 12.5 30 75 5 12.5 Nephrol. 4 10 10 25 25 62.5 1 2.5 Geneticist 15 37.5 15 37.5 10 25 - - Likelihood of Referral to Specialist (N=40) Table 2 Note. Dashes indicate no data received in the category

29. Educational Materials Purpose: • To ascertain if there is a need for the development of genetic educational materials for families • To determine whether existing materials are appropriate for families • Is educational level of the family a factor Survey Questions: • Do you have access to printed educational materials for families about genetic testing in hearing loss? • If printed educational materials were available to you would it increase the likelihood that you would discuss genetic testing with the family?

30. Access to Family Educational Materials Frequency Percentage Yes 8 20 No 16 40 Not Sure 16 40 Total 40 100 Access to Printed Educational Materials (N=40) Table 3 • Only 20% of the respondents reported that materials were available • 40% responded that no materials were available • 40% responded that they did not know if materials were available

31. Frequency Percentage Yes 28 70 No 1 2.5 Not Sure 11 27.5 Total 40 100 Would Genetic Educational Materials Increase Discussion (N=40) Table 4 • 70% indicated if materials were available, it would increase likelihood of discussion of genetics with family

32. Parent Educational Level / Influence Discussion Frequency Percentage Very Much 6 15.0 Somewhat 15 37.5 Not At All 19 47.5 Total 40 100.0 Parent Educational Level and Influence on Genetic Discussion (N=40) Table 5 • More than half (52.5%) reported that the educational level of the parent would influence their discussion of genetic testing with the family

33. Regional Genetic Treatment Centers • Clinical Directors (UConn and Yale) were interviewed about the availability of brochures, pamphlets, fact sheets or other materials • Both confirmed that no printed literature exists for Connecticut • Information obtained from Internet • Four web sites reviewed • 1)   http://www.cdc.gov/genomics/hugenet/reviews/GJB2.htm • 2)      http://www.raisingdeafkids.org/hearingloss/genetics/types.jsp • 3)      http://www.entnet.org/healthinfo/hearing/Genetic_Hearing_Loss.cfm 4) http://genes-r-us.uthscsa.edu/resources/genetics/pdfs/gpc • Average Flesch-Kincaid Reading level was 11.5

34. Provider Training Purpose: To ascertain whether provider training in genetics influenced provider discussion with families Survey Questions: • How informed do you feel discussing genetic testing with parents? • In the past year, how many hours of inservice training related to genetics have you had? • What types of training have you received in genetics? • What types of genetic presentations would you likely participate in?

35. Frequency Percentage Hours of Genetic Training None 29 72.5 1-2 8 20.0 3-4 3 7.5 Total 40 100.0 Hours of Genetic Training (N=40) Table 6 • Table 6 reflects that 72.5% of the providers had no training in the past year

36. Hours of Genetic Training Total 1-2 3-4 Somewhat Informed Frequency 22 5 3 30 Percentage 73 16 10 100 Very Informed Frequency 7 3 0 10 70 30 0 Total 29 8 3 How Informed are you Discussing Genetics? Table 7 How Informed Discussing 0 Percentage 100 Providers who reported no training in the past year indicated higher levels of knowledge, than those who had more hours of genetic training

37. Very Likely Likely Not Likely Hours of Genetic Training in Past Year None Frequency 10 10 9 29 Percentage 34.5% 34.5% 31.0% 100.0% 1-2 Frequency 3 4 1 8 Percentage 37.5% 50.0% 12.5% 100.0% 3-4 Frequency 2 1 0 3 Percentage 66.7% 33.3% .0% 100.0% Total Frequency 15 15 10 40 Percentage 37.5% 37.5% 25.0% 100.0% Hours of Genetic Training and Likelihood of a Genetic Referral(N=40) Table 8 Genetic Referral Total Training in genetics was strongly associated with the likelihood of making a genetic referral

38. CEU Training Self Read Med School Science Degree No Training Frequency 14 29 30 7 2 % 35.0 72.5 75.0 17.5 5.0 Types of Provider Training Table 9 The majority reported training was in medical school (75%), and/or self-read journals (72.5%). Only 5% reported having had no training specific to genetics.

39. Day Video CD Rom Self-Paced Evening Conf. Grand Rounds VCR No Training Frequency 3 15 11 24 5 1 Percentage 7.5 37.5 27.5 60.0 12.5 2.5 Preferred Training Method Table 10 Preferred methods of training were Grand Rounds (60%), CD Rom (37.5%) or an evening conference (27.5%)

40. Health Insurance Purpose: To ascertain if family insurance status was a factor that influenced provider discussion with a family Questions: 1. Does type of health insurance influence whether genetic testing is discussed with a family? 2. Would you refer a child for genetic testing if it were not a covered health insurance benefit?

41. Frequency Percent Very Much 2 5.0 Somewhat 7 17.5 Not At All 31 77.5 Total 40 100.0 Does Lack of Insurance Affect Discussion? Table 11 The majority of pediatricians responded that lack of insurance did not affect their discussion of genetics with the family. 22.5% said it somewhat or very much influenced discussion.

42. Frequency Percent Would Not Refer 1 2.5 Explain but Not Refer 8 20.0 Explain and Would Refer 31 77.5 Total 40 100.0 Referral if Not Covered Benefit? Table 12 Likelihood of Referral if Not a Covered Benefit The majority of providers (77.5%) responded that they would refer the child, regardless of whether it were a covered benefit.

43. Conclusion • Factors that influence provider discussion • Lack of State Policy • Lack of available educational materials • Educational level of the family • Insurance status of family • Lack of provider training

44. Strengths • Identified gaps that exist in Connecticut • Need for revision to State policy • Need for educational materials • Need of provider training • Acknowledged expertise of PCP’s • Value their partnership in efforts to empower families

45. Limitations • Selection bias • PCP’s not randomly selected • Disseminated only to PCP’s who visited a particular hospital on the day of distribution • Number who received survey was dependent upon the numbers disseminated by the birth hospital staff • Results may not be representative of the knowledge of all of CT’s PCP’s and cannot be generalized outside of the project population

46. Recommendations • Revise the State regulations • Implement a coordinated mechanism to assure that infants diagnosed with a hearing loss receive a genetic evaluation as part of the post-diagnostic evaluation • Planned Initiative: • CT Newborn Screening Task Force is addressing revision of the best practice standards • ENT has joined UNHS Task Force • Enlist support of AAP Chapter Champion

47. Recommendations • Develop printed genetic educational materials • Brochures or fact sheets to supplement provider discussion • Maximum grade 5 reading level • Make available in Spanish • Assess need for additional languages • Planned Initiative: • Contracted with health education specialist to develop fact sheet on genetic testing for infants with hearing loss • Assessing the need for translation of all EHDI materials into additional languages

48. Recommendations • Provide ongoing training to healthcare providers in the field of genetics • Pediatric Grand Rounds, evening conferences or CD-Rom • Geneticists, or other providers with such expertise, should conduct training • Planned Initiative: • Contracted with Genetic Treatment Center to • Develop web based genetic training for PCP’s, offering CME’s • Conduct Grand Round Presentations at 20 birth hospitals • Provide broadcast satellite training of Grand Round presentations to additional hospitals • Develop plan to educate families and provide testing to underserved populations

49. Summary State policy changes, in combination with provider genetic education and the development of family educational materials, would enhance discussion between the PCP and families of infants with hearing loss. The outcome of the efforts would employ as its goal a mechanism to empower all parents so that they could make an informed decision about the care of their child.