Original Research

Sensorineural Hearing Loss: A Changing

Paradigm for Its Evaluation
Asitha D. L. Jayawardena, MD1*, A. Eliot Shearer, MD, PhD1*, and
Richard J. H. Smith, MD1,2,3

Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article.

Abstract
Objective. To determine how practicing clinicians evaluate
patients with sensorineural hearing loss (SNHL) and to analyze the cost-effectiveness of current algorithms in the evaluation of these patients.
Study Design/Setting. An interactive online survey allowing
respondents to order diagnostic testing in the evaluation of
4 simulated patients with SNHL across 2 testing encounters
per patient.
Subjects and Methods. The survey was distributed to clinician
members of the American Society of Pediatric Otolaryngology
and the American Society of Human Genetics between May
and August 2014. Statistical tests included chi-square and nonparametric testing with Mann-Whitney U test.
Results. Otolaryngologists were significantly more likely than
other clinicians to order repeat audiometric testing and significantly less likely to order genetic testing. Respondents who
completed training more recently were significantly more likely
to order magnetic resonance imaging and electrocardiogram.
On average, respondents spent $4756 in the evaluation of a
single patient, with otolaryngologists spending significantly
more than other clinicians. Computed tomography of the temporal bone (40%), ophthalmology consultation (39%), and
genetics consultation (37%) were ordered most frequently in
the first encounter. Comprehensive genetic testing was
ordered least frequently on the first encounter (20%) but was
the most frequently ordered test on the second encounter
(30%).
Conclusion. Recent guidelines advocate comprehensive
genetic testing in the evaluation of patients with SNHL, as
early genetic testing can prevent uninformative additional
tests that otherwise increase health care expenditures.
Results from this survey indicate that comprehensive genetic
testing is now frequently but not uniformly included in evaluation of patients with SNHL.

Keywords
deafness, hearing loss, genetic testing, DNA sequencing

Otolaryngology
Head and Neck Surgery
18
American Academy of
OtolaryngologyHead and Neck
Surgery Foundation 2015
Reprints and permission:
sagepub.com/journalsPermissions.nav
DOI: 10.1177/0194599815596727
http://otojournal.org

Received March 4, 2015; revised May 26, 2015; accepted June 30, 2015.

earing loss (HL) is the most common sensory deficit in humans: 2 or 3 of every 1000 children born in
the United States have congenital HL, .50% of
which is genetic, significant enough to affect speech and
language development.1,2 While early diagnosis in infants
facilitates appropriate intervention and habilitation and thus
speech and language development,1 identifying a specific
etiology at any age affects clinical care and HL management by providing prognostic information to patients and
their families, refining genetic counseling, clarifying habilitation options, and identifying associated comorbidities.
The diagnostic complexity of nonsyndromic HL is
reflected by the myriad of tests that are available and have
been advocated as part of the standard evaluation for this
condition. The list includes laboratory studies, such as an
electrocardiogram (EKG), urinalysis, and thyroid hormone
level; imaging studies, such as computed tomography (CT)
or magnetic resonance imaging (MRI) of the temporal bone
and renal ultrasound; and referrals to specialists, such as
ophthalmologists and genetic counselors. While not all tests
are invariably ordered, these tests are costly and timeconsuming and can have a low diagnostic rate and, therefore, a low value in establishing an etiology for the HL.3
Genetic testing for HL first became available in the late
1990s when variants in GJB2 were recognized as a major
cause of severe to profound congenital autosomal recessive
and sporadic nonsyndromic HL in developed countries.4
Because GJB2 has a single coding exon, genetic testing was
simple; however, with the discovery of additional genetic
1
Department of OtolaryngologyHead and Neck Surgery, University of
Iowa Carver College of Medicine, Iowa City, Iowa, USA
2
Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City,
Iowa, USA
3
Department of Molecular Physiology and Biophysics, University of Iowa
College of Medicine, Iowa City, Iowa, USA
*
These authors contributed equally to this article.

Corresponding Author:
Richard J. H. Smith, MD, Department of OtolaryngologyHead and Neck
Surgery, University of Iowa Carver College of Medicine, 200 Hawkins
Drive, Iowa City, IA 52242, USA.
Email: [email protected]

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OtolaryngologyHead and Neck Surgery

causes of autosomal recessive and autosomal dominant nonsyndromic hearing loss, in the early 21st century, testing transitioned from a GJB2-only strategy to serial gene-by-gene
Sanger-based screening using patient-specific phenotypic data
to drive the selection strategy for genetic testing.5 For example, in an infant with congenital severe to profound deafness
in the absence of causal variants in GJB2, which was often
screened as a first step because sequencing was easythe
presence of delayed developmental motor milestones, such as
delayed sitting and delayed walking, would prompt genetic
screening of the Usher syndrome type 1 genes. This step was
a formidable undertaking because of the number of genes
involved in Usher syndrome type 1 and their large size (6
genes totaling 189 exons and 69,800 base pairs).6
Recent advances in sequencing technologies now provide
clinicians with a powerful diagnostic tool to evaluate HL and
inform patient management.6 All genes implicated in nonsyndromic HL can be screened simultaneously with outstanding
accuracy to establish a genetic diagnosis. This test can be
ordered first, and the genetic report can then inform additional tests likely to be of benefit in patient care.6 For example, in an infant with sporadic moderate HL with causative
mutations in SLC26A4 identified by genetic testing, a CT
scan to assess the enlarged vestibular aqueduct should be
ordered; in contrast, if the HL was secondary to 2 variants in
TECTA, no further testing would be warranted.
Several recent studies have examined the diagnostic yield
of the battery of tests available for evaluation of patients with
HL, and they have found wide ranges of clinical utility for
these tests and recommended tiered evaluation involving
genetic testing.7-9 A recent position statement by the
American College of Medical Genetics advocated a tiered
approach to the evaluation of HL to save costs, reduce incidental findings, and improve overall diagnostic yield.1
As there have been no studies to examine current practice
in the evaluation of HL in the wake of comprehensive genetic
testing and the American College of Medical Genetics recommendations, we created an interactive survey to assess clinical
preferences for tests and referral patterns in the evaluation of
HL. The survey presents 4 simulated cases, each of which
offers to the clinician 2 encounters during which the patients
HL can be evaluated. The responses provide a representative
sample to determine the current algorithm that clinicians use
when evaluating patients with sensorineural hearing loss
(SNHL). We then compare the cost-effectiveness of the different algorithms used when evaluating patients with SNHL. We
hypothesize that there remains high variability in the evaluation of these patients and that comprehensive genetic testing is
not yet uniformly utilized among health care providers.

Materials and Methods

Survey Population
Health care professionals who care for patients with HL were
targeted for survey distribution through 2 large professional
societies: the American Society of Pediatric Otolaryngologists
and the American Society of Human Geneticists. The

American Society of Pediatric Otolaryngologists is a society of

.500 members, mostly pediatric otolaryngologists. The
American Society of Human Geneticists is a society of nearly
8000 members, whose membership includes researchers, academicians, clinicians, and other individuals with an interest in
human genetics. The survey distributed to the American
Society of Human Geneticists called specifically for clinicians
of geneticists involved directly in the care of patients with HL.
Although our survey targeted geneticists and pediatric otolaryngologists, the breadth of the American Society of Human
Geneticists population is broad; thus, we allowed practitioners
to identify themselves as pediatrician or other. Private
practitioners who were associated with a medical center
were classified as private practice.

Survey Design and Testing

The survey instrument was designed using information
reported in the literature and investigator-based hypotheses.1
We utilized simulated case-based scenarios as a means to
analyze practice patterns. The survey begins with a brief
section that solicits respondent-specific data, including practice demographics and training experience. Four patient
cases then follow, each of which includes a brief history
and audiometric data. Respondents are asked to order those
diagnostic tests that they would typically request in the evaluation of a patient with HL. The test battery includes
repeat audiometry, audiometry on parents of family members, congenital infection screening, thin-cut CT of the temporal bone, MRI of the temporal bone, EKG, urinalysis,
ophthalmology consultation, genetics referral, genetic testing of GJB2, and multigene (comprehensive) genetic testing. After the first encounter, results of the requested
tests are provided, and a second encounter is simulated, at
which time additional testing can be ordered. At the conclusion of the second encounter, a summary of the case, including the final diagnosis and plan, is provided. There are no
right or wrong answers. The full survey is available in
the appendix (available online at www.otojournal.org of
supplemental).

Cases Presented
The cases were selected to include a representative cross
section of patients with SNHL:
Case 1: A 40-year-old man with progressive HL, a
positive family history of HL, and a final diagnosis
of HL caused by a mutation in the gene KCNQ4
(DFNA2).
Case 2: A 6-month-old male with mild HL, no family
history of hearing loss, and a final diagnosis of HL
caused by mutations in STRC (DFNB16).
Case 3: A 12-year-old girl with unilateral HL with no
identified cause of hearing loss.
Case 4: A 12-month-old girl with profound HL, no
family history of hearing loss, and a final diagnosis
of Usher syndrome, type 1D, secondary to mutations in the gene CDH23.

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Jayawardena et al

The Qualtrics online survey program (Qualtrics, Inc, Provo,

Utah) was used to administer the survey. The instrument
underwent trial testing by screening committees from the
American Society of Pediatric Otolaryngologists and the
American Society of Human Geneticists for functionality,
quality, and adherence to specific societal guidelines. This
study was granted exemption from consent by the Institutional
Review Board of the University of Iowa.

Cost Data
As there is high variability in health care costs throughout
the nation, we used costs at our home institution to represent the costs of the tests available through the case-based
scenarios. Comprehensive genetic testing is available as a
send-out test, regardless of institution, for $1500. As insurance reimbursement is dependent on patient, comorbidities,
state, insurance company, and so on, we did not include this
variable in our cost analysis.

Data Collection
The initial request for survey participation was sent by e-mail
using each societys respective LISTSERV. An introductory
message from the research team and a survey link were
included in the e-mail. A follow-up reminder was sent to the
same list 4 weeks later. The survey was closed after response
rates decreased.

Measures, Variables, and Data Analysis

Questions with free-response answers that were categorical
variables were organized and tabulated, with the most
common answers being reported. Data were collated in
Microsoft Excel and analyzed in SPSS 21. We divided
respondents into 4 categories for statistical analysis: occupation, time when clinical training was completed, type of
practice (academic vs private practice), and number of
patients evaluated per month (Table 1). Statistical tests
included chi-square with Pearson coefficient, as well as nonparametric testing with multiple comparisons (MannWhitney U test). P \ .05 was considered significant.

Results

Table 1. Survey Demographics.a

Completed survey
Occupation
Otolaryngologist
Geneticist
Otherb
Finished training
1950s
1960s
1970s
1980s
1990s
2000s
2010s
No response
Fellowship
Yes
No
No response
Fellowship type
Pediatric otolaryngology
Clinical/medical genetics (geneticist)
Other
Otology/neurotology
No response
Practice type
Academic
Private practice
No response
Patients with SNHL seen per month
0
1-5
6

Subtotal / Total, n

78

87/111

61
29
10

53/87
25/87
9/87

1
0
16
20
30
28
6
5

1/87
0/87
14/87
17/87
26/87
24/87
5/87
4/87

86
11
7

75/87
10/87
6/87

63
23
4
1
4

47/75
17/75
3/75
1/75
3/75

70
29
1

61/87
25/87
1/87

1
57
41

1/87
50/87
36/87

Abbreviation: SNHL, sensorineural hearing loss.

a
For no-answer responses, the value was excluded from demographic
analysis.
b
Other occupations include pediatrician (n = 3), genetic counselor (n = 3),
pediatric neurologist (n = 1), ophthalmologist (n = 1), otherno response
(n = 1).

Study Demographics
Demographic results are shown in Table 1. In sum, 111
respondents started the survey, and 87 completed it (78%
completion rate). Of the 24 respondents who did not complete the survey, 80% (19 of 24) were identified as otolaryngologists, 13% (3 of 24) as geneticists, and 8% (2 of 24) did
not respond with an occupation.
The respondents identified themselves most commonly as
otolaryngologists (61%), followed by geneticists (29%), as
well as other clinicians (10%), including pediatricians (3%),
genetic counselors, (3%), and 1 each of pediatric neurologist,
ophthalmologist, and other (no answer). The majority of
respondents (58 of 87, 67%) completed their clinical training
between the 1950s and the 1990s; the remainder (29 of 87,
23%) competed their clinical training in the 2000s and 2010s.

These 2 groups were used for statistical analysis, as genetic

testing for HL became widely available in the late 1990s.
The majority of respondents were part of an academic practice (70%, 61 of 87), while the remainder were part of a private practice or a private practice affiliated with a medical
center (grouped as private practice; 29%, 25 of 87).
The majority of respondents (75 of 87, 86%) were fellowship trained, with pediatric otolaryngology (63%) being
the most common fellowship, followed by clinical or medical genetics (23%). The majority of respondents (61 of 87,
70%) were also in academic practice. Although the majority
of otolaryngologists (47 of 57, 83%) were pediatric otolaryngologists, for analysis purposes, we grouped all otolaryngologists and referred to them as otolaryngologists.

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Table 2. Percentage of Respondents Ordering Each Test at Least Once across All 4 Cases and 2 Encounters per Case.a
Completion
of Training

Occupation
Test
Repeat audiogram/ABR
Audiogram of parents
Congenital infection
screen
CT temporal bone
MRI temporal bone
EKG
UA
Ophthalmology consult
Genetics consult
DFNB1 genetic testing
Multigene panel
genetic testing

Practice
Type

Patients Seen
Per Month

All Otolaryngologist Geneticist Other 1950s-1990s 2000s-2010s Academic

Private
1-5
6
(n = 87)
(n = 57)
(n = 25) (n = 9) (n = 58)
(n = 29) (n = 61) Practice (n = 25) (n = 50) (n = 36)
62
76
63

77
81
64

32
64
60

56
78
67

60
76
62

66
76
66

62
75
62

60
76
64

46
72
66

83
81
58

83
67
63
66
85
82
74
78

87
72
66
68
83
89
74
70

80
52
60
64
84
76
76
96

67
78
56
56
100
56
67
78

84
55
55
67
83
79
74
79

79
90
79
62
90
86
72
76

87
69
61
67
84
82
72
80

72
60
68
60
92
80
76
72

78
66
64
62
88
78
80
86

89
67
61
69
83
86
64
67

Abbreviations: ABR, auditory brainstem response; CT, computed tomography; EKG, electrocardiogram; MRI, magnetic resonance imaging; UA, urinalysis.
a
Chi-square 2-sided test of significance used for proportion comparison; P \.05 considered significant. Bold values were found to be significantly different.

Of the respondents, 57% (50 of 87) saw 1 to 5 patients

per month with HL, while 41% (36 of 87) saw .5. We
found that of the respondents who saw .5 patients per
month, 95% (35 of 37) were otolaryngologists; the remaining 2 respondents identified as a pediatrician and a genetic
counselor.

Diagnostic Tests Ordered

Table 2 shows the overall frequency of respondents ordering
each type of test across all 4 cases, including both encounters
for each case (8 total encounters). Ophthalmology consultation,
CT of temporal bone, and genetics consult were ordered at
least once by 85%, 83%, and 82% of respondents, respectively, making them the most frequently ordered test or consult. Repeat audiometric testing, EKG, and congenital
infection screen were ordered least frequently (ordered at least
once by 62%, 63%, and 63% of respondents, respectively).
Multigene (comprehensive) genetic testing was ordered slightly
more than single-gene (GJB2) testing (78% vs 74%, respectively). For the majority of diagnostic tests, there was no significant difference in ordering frequency based on occupation.
However, compared with geneticists, otolaryngologists were
significantly more likely to order repeat audiograms or auditory brainstem response (77% vs 32%, P \ .01) and significantly less likely to order comprehensive genetic testing (70%
vs 96%, P \ .01).
Differences in tests ordered reflected time of clinical
training. Respondents who completed training after 1990
were significantly more likely to order MRI and EKG as
compared with their more senior colleagues (90% vs 55%
for MRI, P \ .01; 79% vs 55% for EKG, P \ .02).
Respondents who see more patients were also significantly

more likely to repeat auditory brainstem response of audiogram testing and less likely to order comprehensive genetic
testing (83% vs 46% for auditory brainstem response of
audiogram, P \ .01; 67% vs 86% for comprehensive
genetic testing, P \ .03). There were no significant differences in the overall frequency of tests ordered across cases
based on practice type (academic vs private practice;
Table 2).

Tests Ordered by Encounter

As shown in Figure 1, the most commonly ordered test on the
first encounter, when averaged across all 4 cases, was CT of the
temporal bone (40%), followed by ophthalmology (39%) and
genetics consultations (37%). The least commonly ordered tests
on the first encounter were comprehensive genetic testing
(20%), congenital infection screen (21%), and EKG (24%). On
the second encounter, the most commonly ordered test was
comprehensive genetic testing (30%), followed by genetics consultation (13%) and congenital infection screen (8%).

Tests Ordered by Case

We also examined the tests ordered by respondents for each
case when both encounters were combined to better understand overall ordering patterns (Figure 2). Congenital
infection screens were ordered less frequently in adult
patients (cases 1 and 3 at 3% and 7%, respectively). Case 3
involved the only patient with unilateral hearing loss.
Respondents ordered CT of the temporal bone most frequently in this case (ordered by 60% of respondents, compared with 47%, 45%, and 38% for cases 1, 2, and 4,
respectively). Respondents ordered genetic testing least frequently for this case, including single-gene testing (ordered

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Jayawardena et al

Figure 1. Tests ordered by encounter. Values shown are the percentage of all respondents who ordered a particular test on either the
first or second encounter, averaged across all 4 cases. ABR, auditory brainstem response; CT, computed tomography; EKG, electrocardiogram; MRI, magnetic resonance imaging; UA, urinalysis.

Figure 2. Tests ordered by case. Values shown are percentage of all respondents who ordered a particular test either in the first or
second encounter for each case. Case 3, the case that involved unilateral hearing loss, is highlighted in yellow. ABR, auditory brainstem
response; CT, computed tomography; EKG, electrocardiogram; MRI, magnetic resonance imaging; UA, urinalysis.

by 18% vs 26%, 46%, and 38% for cases 1, 2, and 4,

respectively) as well as multigene testing (ordered by 36%
vs 68%, 59%, and 40%, for cases 1, 2, and 4, respectively).

Costs of Tests Ordered

On average, 4 tests were ordered per encounter with no significant differences between groups. The most expensive tests
were MRI ($5163), CT of temporal bone ($2047), and comprehensive genetic testing ($1500). The least expensive tests
were urinalysis ($47), congenital infection screen ($100), and
EKG ($258; Table 3).
Respondents spent an average of $4756 per case (Table
4). Case 1 was the least expensive ($4544), while case 4

was the most expensive ($5325). On average across all 4

cases, otolaryngologists spent significantly more money
evaluating HL than did geneticists ($5152 vs $3807, P \
.02). Respondents who completed clinical training after 1990
also spent significantly more per case than their older counterparts ($5252 vs $4508, P \ .01). Academicians spent
more than private practitioners ($4816 vs $4444), as did persons who saw more patients ($5085 vs $4437), although
these differences were not significant.

Discussion
The goal of this study was to determine how practicing clinicians evaluate patients with SNHL. Until recently, the

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Table 3. Costs of Tests Ordered for Evaluation of Sensorineural Hearing Loss at Our Institution ($).

Auditory brainstem response

Audiometry
Ophthalmology consult
CT of temporal bone
MRI of temporal bone
Electrocardiogram
Urinalysis
Renal ultrasound
Congenital infection screen
Genetics consult
GJB2/DNFB1 gene testing
Multigene genetic testing panel

Physician

Hospital

Total

255
145
363
317
586
85

145

530

1114
279
167
1730
4577
173
47
484
100
167
324
1500

1369
424
530
2047
5163
258
47
629
100
697
324
1500

Abbreviations: CT, computed tomography; MRI, magnetic resonance imaging.

Table 4. Cost Comparison of Tests Ordered for Evaluation of Sensorineural Hearing Loss.a
Completion
of Training

Occupation

Case

All
(n = 87)

Otolaryngologist
(n = 53)

Geneticist
(n = 25)

Other
(n = 9)

Avg
1
2
3
4

4756 (2109)
4544 (2778)
4592 (2528)
4562 (2707)
5325 (3208)

5152 (2117)
4961 (3055)
4662 (2445)
4880 (2770)
6104 (3331)

3807 (1726)
3727 (1982)
3766 (2223)
3757 (2216)
3979 (2420)

5057 (2405)
4358 (2685)
6473 (2977)
4924 (3369)
4473 (3228)

1950s1990s
(n = 58)
4508
4602
4342
3921
5165

(1909)
(2833)
(2213)
(2450)
(3088)

2000s2010s
(n = 29)
5252
4428
5092
5842
5644

Patients Seen
per Month

Practice Type

(2420)
(2709)
(3044)
(2783)
(3470)

Academic
(n = 61)
4816
4368
4658
4634
5602

(2096)
(2724)
(2391)
(2807)
(3244)

Private
Practice
(n = 25)
4444
4832
4220
4235
4489

(2033)
(2901)
(2702)
(2420)
(2997)

1-5
(n = 50)
4437
4500
4450
4366
4430

(2036)
(2782)
(2401)
(2535)
(2688)

6
(n = 36)
5085
4508
4644
4729
6458

(2094)
(2788)
(2610)
(2919)
(3501)

All values are given in US$. Values are mean (SD). Means were compared with the nonparametric Mann-Whitney U test, with P \.05 considered significant;
bold values were found to be significantly different.

primary objective was to exclude syndromic forms of hearing

loss that carry associated morbidities, such as kidney disease,
blindness, or cardiac arrhythmias, with a myriad of tests and
referrals. However, since the introduction of clinical genetic
testing for SNHL, the focus has shifted to establishing an
etiologic diagnosis using genetic testing. The American
College of Medical Genetics recently released a guideline1
that included comprehensive genetic testing as part of the
standard evaluation; however, no otolaryngologists were
included as part of the drafting committee. In this study, we
used a survey simulating 4 case encounters to determine how
cliniciansotolaryngologists and nonotolaryngologists
evaluate SNHL on a daily basis.
Our analysis reveals that despite differences in training,
geneticists and otolaryngologists are statistically equally
likely to order audiograms of parents, congenital infection
screen, CT and MRI of the temporal bone, EKG, urinalysis,
ophthalmology consultation, genetics consultation, and
DFNB1 genetic testing. The areas of difference are in ordering repeat audiograms, which are ordered more frequently

by otolaryngologists, and multipanel genetic testing, which

is ordered more frequently by geneticists. Despite being
more likely to order comprehensive genetic testing initially,
geneticists ultimately spend significantly less than otolaryngologists in their workup of these patients.
Establishing a diagnosis for SNHL is challenging, and
the relative value of the tests to consider can be confusing.
The results of our survey attest to this complexity and suggest that there is no universally accepted diagnostic algorithm. Rather than following consistent evidence-based
algorithms, we suspect that preferences reflect clinical
familiarity with individual tests. As newer tests, such as
comprehensive genetic testing, have become available, integrating them into the evaluation process can be slow, especially if clinicians are unfamiliar with the technology and
have difficulty in interpreting the final report. Because clinical geneticists may be more familiar with interpreting
the results of comprehensive genetic testing as compared
with otolaryngologists, they may be more comfortable
ordering this test.

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Jayawardena et al

The current consensus is that HL should be evaluated

using a tiered testing approach that emphasizes history and
physical examination, followed by genetic testing, with imaging studies considered if genetic testing is negative or
inconclusive.1 This consensus is based on the premise that
the diagnosis be made using the fewest tests possible and
that the various tests have differing diagnostic utility.3,7-12
While sensitivity and positive diagnostic rates vary widely,
imaging studies are thought to have the highest diagnostic
yield (about 30% for CT and 26% for MRI in systematic
reviews10,11) and are certainly better than genetic testing if
it is limited only to GJB2 mutation screening.7,12 Recent
studies, however, show that comprehensive genetic testing
has a diagnostic rate of 37% to 60%,13-15 making it the best
test to order in the evaluation of SNHL.
There are several well-documented reasons to support the
use of comprehensive genetic testing in the diagnosis of
SNHL. As the cornerstone of precision medicine for hearing
health care, the results of comprehensive genetic testing for
HL can lead to improved diagnosis and clinical management
of patients with HL. Examples include the diagnosis of Jervell
and Lange-Nielsen syndrome, Usher syndrome, deafnessinfertility syndrome, and mitochondrial DNArelated hearing
loss.6 However, not only is comprehensive genetic testing
clinically appropriate, but it is also cost-effective. As a single
test, it is less expensive than any temporal bone-imaging modality, and as multiple studies have shown, it has the highest
single-test positive diagnostic rate overall.3,6,10,11,13-15 The
notable exception is unilateral hearing loss, as these patients
infrequently have identifiable causes of genetic hearing loss
even with comprehensive genetic testing.6 In the costconscious climate of todays health care industry, otolaryngologists may benefit from utilizing comprehensive genetic testing earlier in their diagnostic algorithm, similar to the
geneticists in this study, who demonstrated a more costeffective evaluation of patients with SNHL in our analysis.
The strength of this study is its use of simulated case scenarios to determine how providers evaluate patients with
SNHL. However, there are several limitations that warrant
mention. First, the American Society of Pediatric
Otolaryngologists was the only resource used to disseminate
this survey to otolaryngologists, and as such, these results
are likely only generalizable to the pediatric otolaryngology
population. Second, the cost-effectiveness analysis is limited
because we did not consider insurance reimbursement. By
presenting our data in the context of hospital charges for
individual tests and consultations, however, we sought to
eliminate inconsistencies introduced by including insurance
reimbursement, which can be highly variable. Thus, our
cost data do not represent the ultimate out-of-pocket cost to
the patient but rather the cost charged by the hospital and so
may not be generalizable in all circumstances.
In conclusion, while recent guidelines support the use of
comprehensive genetic testing early in the evaluation of
SNHL as a step to increase the diagnostic rate and decrease
the utilization of uninformative tests, we found significant
variability in respondents testing approach. Although an

algorithm utilizing comprehensive genetic testing has the

potential to decrease health care expenditures in the evaluation of HL, clinicians have not uniformly incorporated this
new test into their clinical practice.
Authors Note
Asitha D. L. Jayawardena is currently affiliated with the Department
of OtolaryngologyHead and Neck Surgery, Vanderbilt University
School of Medicine, Nashville, Tennessee, USA.

Author Contributions
Asitha D. L. Jayawardena, study design, survey administration,
data collection and assembly, and data analysis, edited, and
reviewed the final manuscript; A. Eliot Shearer, study design,
survey administration, data collection and assembly, and data analysis, edited, and reviewed the final manuscript; Richard J. H. Smith,
study design, survey administration, data collection and assembly,
and data analysis, edited, and reviewed the final manuscript.

Disclosures
Competing interests: None.
Sponsorships: None.
Funding source: National Institute on Deafness and Other
Communication Disorders RO1s DC003544, DC002842, and
DC012049.

Supplemental Material
Additional supporting information may be found at http://otojournal
.org/supplemental.

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