Factors That Influence Provider Discussion of Genetic Testing in Families of Infants with

Hearing Loss

 Donna C. Maselli, RN, MPH

Connecticut Department of Public HealthHartford, CT

 

Faculty Disclosure Information 

In 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.

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”

Healthy People 2010

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

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

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

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

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

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

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

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

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

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 and linguistically 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

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 –

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

Statement of the ProblemPolicies

• National organizations support a genetic evaluation for infants with hearing loss

• Genetic referral not included in CT UNHS guidelines

Statement of Problem Educational 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

Statement of Problem Provider 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

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

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

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

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

Response Rate

• A total of 91 surveys were distributed

• 40 were returned

• Yielded a 44% response rate

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

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

Provider Knowledge of PolicyPurpose: To evaluate provider knowledge of existing state

regulations

Survey Questions:

1. 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.

 

Question Frequency Percentage

     

Knowledge of Universal Screening Before Discharge

   

Yes 39 97.5

No 1 2.5Confirm Hearing Screening Conducted    

Yes 38 95

No 2 5Infant with Hearing Loss in Practice    

Yes 34 85

No 4 10 Not Sure 2 5Referral to Diagnostic Center    

Yes 38 95

No 2 5

Knowledge of State UNHS Policies (N=40)

Table 1

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 

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:1. Do you have access to printed educational materials for

families about genetic testing in hearing loss?

2. If printed educational materials were available to you would it increase the likelihood that you would discuss genetic testing with the family?

Access to Family Educational Materials

Frequency Percentage

Yes8 20

No16 40

Not Sure16 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

  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

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

 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

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

Provider Training

Purpose:To ascertain whether provider training in genetics influenced provider discussion with families

Survey Questions:1. How informed do you feel discussing genetic testing with

parents?2. In the past year, how many hours of inservice training

related to genetics have you had?3. What types of training have you received in genetics?4. What types of genetic presentations would you likely

participate in?

Hours of Genetic Training (N=40)

Table 6

Table 6 reflects that 72.5% of the providers had no training in the past year

 Frequency Percentage

Hours of Genetic Training

None 29 72.5

1-2 8 20.0

3-4 3 7.5

Total 40 100.0

How Informed Discussing

  Hours of Genetic Training

Total1-2 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  

Percentage

0

100

How Informed are you Discussing Genetics?Table 7

Providers who reported no training in the past year indicated higher levels of knowledge, than those who had more hours of genetic training

 

Very Likely Likely

Not Likely

Hours of Genetic

Training in Past Year

None Frequency10 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%

Genetic Referral Total

Hours of Genetic Training and Likelihood

of a Genetic Referral (N=40) 

Table 8

Training in genetics was strongly associated with the likelihood of making a genetic referral

  CEU Training

Self Read Med School Science Degree

NoTraining

           

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.

  Day Video CD RomSelf-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%)

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?

  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?

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.

Table 11

 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

Likelihood of Referral if Not a Covered Benefit

Referral if Not Covered Benefit?

Table 12

The majority of providers (77.5%) responded that they would refer the child, regardless of whether it were a covered benefit.

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

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

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

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

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

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

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.