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. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: Genet Med. 2021 Dec 20;24(3):712–721. doi: 10.1016/j.gim.2021.11.015

Increasing Inclusivity in Precision Medicine Research: Views of Deaf and Hard of Hearing Individuals

Diana C Garofalo 1, Howard A Rosenblum 2, Yuan Zhang 3, Ying Chen 4, Paul S Appelbaum 5, Maya Sabatello 6
PMCID: PMC9768819  NIHMSID: NIHMS1848726  PMID: 34949531

Abstract

Purpose:

Deaf/hard of hearing (HoH) individuals can benefit from precision medicine research (PMR) but are underrepresented in mainstream health research and may experience barriers to participation. Understanding their views and concerns about PMR can inform processes to foster inclusion in future studies and reduce health disparities.

Methods:

We administered an online, disability accessible survey to explore perceptions of PMR among inter alia deaf/HoH individuals. Questions included willingness to participate, interest in results, and barriers and facilitators to participation. Analyses describe results for participants who self-identified their primary condition as being deaf/HoH and compared results for key demographic characteristics.

Results:

267 deaf/HoH participants completed the survey. Interest in PMR was high, though many reported inaccessible facilities and information about medical research; 51% reported that communication with health professionals is a barrier. Concerns about harm, lack of access to benefits, misinformed allocation decisions and limited disability-relevant knowledge among researchers and healthcare providers were significant. Differences across racial, ethnic, and gender groups were observed and are discussed.

Conclusion:

Strategies to remove barriers to participation of deaf/HoH individuals in PMR are suggested. Distrust is a major challenge for cohort diversity and research is needed to identify measures to increase the trustworthiness of PMR endeavors.

Introduction

The boom in precision medicine research (PMR) in the past ten years has led to increased hope for developing more accurate etiologic knowledge about human diseases and tailored, or personalized, treatments for patients. PMR aims to uncover how an individual’s genes and environment (including lifestyle) contribute to health and disease, and pillars include extensive data collection of biological/genetic, environmental and lifestyle information, return of genetic and nongenetic results, and long-term engagement.1 Early PMR studies were based largely on populations of European ancestry, lacking diversity overall.2 Efforts that are now underway to recruit underrepresented ethnic and racial minorities into PMR have been led to a great extent by national PMR initiatives, especially the All of Us Research Project.1 But, efforts to enroll people with disabilities into PMR have been limited. This is the case, even as people with disabilities experience vast health disparities, including a higher risk of cancer and chronic conditions such as diabetes and could benefit from scientific advances at least as much as others from the general public.3

The inclusion of deaf and hard of hearing (HoH) individuals in PMR has the potential for widespread benefit. It is estimated that 15-20% of Americans 12 years and older are deaf or hard of hearing, including upwards of 2% of Americans above age 45 who reported being HoH.4 It is further estimated that up to 1 million people in the United States primarily use American Sign Language (ASL).5 ASL is a complete, grammatically complex, visual-gesture (tactual) language that includes bodily movement and facial expressions and reflects a distinctive shared history, tradition and cultural identity of the Deaf community—with a capital D which represents the Deaf Culture and has ASL as its foundation; it is distinct from the lowercase deaf which refers to all deaf people whether they use ASL or not (while diversity in views within groups exists,6 here, we use a capital D when referenced studies involved Deaf individuals who use ASL and per the preference of the National Association of the Deaf (NAD), a collaborator on this study).

Concurrently, reduced access to healthcare, poverty, communication barriers, and a general distrust of healthcare providers all contribute to well-documented health disparities among deaf/HoH individuals. Research indicates that families with children who are hard of hearing may have lower socioeconomic status than other families and fewer interactions with the healthcare system, including reduced access to medications, mental health services, and dental care.7 Studies also found disparities in uptake of preventive care, such as lower rates of cervical cancer screening among Deaf women than hearing women.8 Health disparities among adult Deaf/HoH individuals may further be due to less frequent and/or ineffective interactions with the medical system.5,9 Challenges in communicating in sign language with hearing individuals, especially with clinicians, may limit the accessibility of healthcare services, as well as health education, outreach, and disease surveillance.10 For instance, a study found that Deaf men feel less engaged in decision making regarding prostate-specific antigen screening,11 and a simulated, cross-sectional audit study found that access of Deaf patients to primary medical and dental care is significantly reduced compared to hearing patients.12 Another complexity is possible disagreement over the conceptualization of deafness as a disability. In contrast to the medical perspective that views being deaf as a deficit that requires treatment, members of the Deaf community view their condition as a matter of identity and pride.6 This incongruity challenges the establishment of a trusting dynamic between practitioner (clinician or researcher) and patient.

Given the significant challenges for deaf/HoH individuals in clinical settings, better understanding of the barriers that this population may experience in the context of PMR is critical for the benefits of scientific knowledge to accrue to them. Although clinical and research settings serve different purposes, PMR continues to blur this distinction.13 The genetic component of PMR may further raise unique concerns. Contrary to the perspective of members of the Deaf community, the medical community views being deaf as a disability, and efforts to “cure” people’s being deaf through genetic or other interventions as well as the growing use of genetic testing in the prenatal screening setting14 may create apprehension towards participation in PMR. Yet, there are also indications that perceptions of genetics among deaf/HoH individuals are evolving and may be positive outside of the prenatal testing context.15 For instance, a study of Deaf women found increased awareness about genetic testing for BRCA 1/2, especially among young adults, college students and/or those who have a family history of cancer.16 Whether such views extend to PMR has not been previously studied, nor has how deaf/HoH individuals view PMR more generally.

Here, we report on findings from a national survey that explored the views of adults with disabilities on participation in PMR and identified perceived barriers to such participation. We focus only on survey participants who identified their primary condition as “Deafness or hard of hearing” (deaf/HoH, n=267; demographic characteristics are available in Table 1).17 We explore general interest in PMR, highlight how key barriers—i.e., accessibility, communication, and fear of harm—contribute to lack of trust, and provide recommendations to ensure that deaf/HoH individuals can equitably participate in future PMR. Our starting point is that being deaf/HoH is part of human diversity and that engaging with this population in discussion of PMR is critical for deaf/HoH individuals to enjoy the benefits of such knowledge. Insofar as precision medicine researchers (and funders) can better understand, and address, the health requirements of this population, it would promote the goal of PMR improving health outcomes for everyone.

Table 1.

Demographic Characteristics of Deaf/HoH Individuals

Demographic Variables N %
Age (n=267)
 18-29 years 138 51.7
 30-59 years 116 43.4
 60 or older 13 4.9
Gender (n=252)
 Male 111 44
 Female 135 53.6
 Unknown/prefer not to answer 6 2.4
Race (n=267)
 White 156 58.4
 Black or African American 67 25.1
 Asian 5 1.9
 Pacific Islander 3 1.1
 American Indian, Native Alaskan, Native Hawaiian 4 1.5
 Mixed race 14 5.2
 Prefer not to answer/none of the above 18 6.7
Ethnicity/Hispanic (n=247)
 Hispanic 109 44.1
 Non-Hispanic 138 55.9
Education level (n=245)
 High school, GED, or less 33 13.5
 Some college/vocational/technical 132 53.9
 Bachelor’s degree 56 22.9
 Graduate degree 24 9.8
Household income (n=247)
 Less than $20,000 55 22.3
 $20,000 to $55,999 111 44.9
 $56,000 to $100,000 70 28.3
 Over $100,000 11 4.5
Residence (n=252)
 Urban 129 51.2
 Suburban 111 44
 Rural 12 4.8
Employment Status (n=267)a
 Full-time employment 125 46.8
 Part-time employment 84 31.5
 Stay-at-home parent 10 3.7
 Student 16 6
 Unable to work 3 1.1
 Other: not employed, retired, volunteer 43 16.1
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a

Participants who endorsed more than one employment category (e.g., student and employed) are included in both categories.

Methods

Methods for this study have been described in detail previously.17 Briefly, we conducted a national, online survey in collaboration with national disability organizations to study perceptions of PMR among self-reported adults with disabilities. The survey described a hypothetical, prospective PMR study and queried individuals about their willingness to participate, barriers to participation, and methods to alleviate barriers. The survey was available in plain language English, Spanish and American Sign Language (ASL), the latter translation developed by the NAD.

Statistical analyses were completed in SPSS and SAS 9.4. Frequency tables were constructed to evaluate the proportion of deaf/HoH individuals who endorsed relevant responses. Results were also stratified by sex, race (white versus non-White), and ethnicity (Hispanic versus non-Hispanic) and chi-squared tests used to compare frequencies; more nuanced racial/ethnic analysis was impossible due to small samples of participants from historically marginalized racial/ethnic minorities. In Table 2, we used a conservative Bonferroni-corrected alpha level to account for multiple comparisons, with a significance cut-off set at α/90 = 0.0006.

Table 2.

Relevant survey responses (barriers and incentives for participation) in full sample and stratified by sex, ethnicity, and race

Full Sample (n=267) Males (n=111) Females (n=135) Hispanic (n=109) Non-Hispanic (n=138) White (n=166) Non-White (n=101)
N(%) N(%) N(%) P Value N(%) N(%) P value N(%) N(%) P value
General
I think this study should be done 254 (95.1) 109 (98.2) 127 (94.1) 0.10 108 (99.1) 130 (94.2) 0.04 159 (95.8) 95 (94.1) 0.53
I would participate in the study, if I was asked 237 (89.1) 99 (89.2) 124 (91.9) 0.48 99 (90.8) 123 (89.1) 0.66 151 (91.5) 86 (85.2) 0.11
The study could lead to better treatments, cures, and save lives 231 (91.7) 103 (92.8) 125 (92.6) 0.95 98 (89.9) 128 (92.8) 0.43 154 (93.3) 77 (88.5) 0.19
Willing to contribute a blood sample 197 (73.7) 89 (80.2) 100 (74.1) 0.26 80 (73.4) 110 (79.7) 0.24 131 (78.9) 66 (65.4) 0.01
Willing to contribute other samples, like urine, saliva, or hair 176 (65.9) 67 (60.4) 100 (74.1) 0.02 69 (63.3) 99 (71.7) 0.16 111 (66.9) 65 (64.4) 0.67
Willing to contribute samples of the soil or water from around my home 107 (40.1) 49 (44.1) 51 (37.8) 0.31 20 (18.4) 80 (58.0) <0.0001 a 85 (51.2) 22 (21.8) <0.0001 a
Willing to contribute my heart rate/daily number of steps from Fitbit/smartphone 79 (29.6) 35 (31.5) 37 (27.4) 0.48 19 (17.4) 55 (39.9) <0.0001 a 54 (32.5) 25 (24.8) 0.18
Motivating factor: getting more information about my health 170 (63.7) 67 (60.4) 100 (74.1) 0.02 79 (72.5) 90 (65.2) 0.22 105 (63.3) 65 (64.4) 0.86
Physical Inaccessibility
The space and equipment in clinics and healthcare facilities are not accessible for me 134 (50.2) 69 (62.2) 61 (45.2) 0.01 41 (37.6) 90 (65.2) <0.0001 a 109 (65.7) 25 (24.8) <0.0001 a
Transportation to healthcare facilities is difficult 144 (53.9) 52 (46.9) 85 (63.0) 0.01 74 (67.9) 64 (46.4) <0.001 a 75 (45.2) 69 (68.3) <0.001 a
I don’t have regular access to the Internet 59 (22.1) 35 (31.5) 22 (16.3) <0.01 a 25 (22.9) 31 (22.5) 0.93 39 (23.5) 20 (19.8) 0.48
Incentives for participation
Having free transportation to a medical center for the study		 166 (62.2) 73 (65.8) 89 (65.9) 0.98 71 (65.1) 92 (66.7) 0.80 108 (65.1) 58 (57.4) 0.21
Having accessible locations for visits with researchers 118 (44.2) 51 (46.0) 61 (45.2) 0.91 42 (38.5) 71 (51.5) 0.04 80 (48.2) 38 (37.6) 0.09
Having non-hospital settings for research visits 114 (42.7) 68 (61.3) 42 (31.1) <0.0001 a 40 (36.7) 70 (50.7) 0.03 86 (51.8) 28 (27.7) <0.001 a
Inaccessible Communication
Information about medical research is not accessible to me 110 (41.2) 67 (60.4) 41 (30.4) <0.0001 a 30 (27.5) 76 (55.1) <0.0001 a 91 (54.8) 19 (18.8) <0.0001 a
Communication with health professionals is difficult for me 137 (51.3) 52 (46.9) 79 (58.5) 0.07 73 (67.0) 58 (42.0) <0.0001 a 68 (41.0) 69 (68.3) <0.0001 a
Incentive for participation
Having study results communicated in understandable ways		 144 (53.9) 74 (66.7) 63 (46.7) <0.01 46 (42.2) 90 (65.2) <0.001 a 110 (66.3) 34 (33.7) <0.0001 a
Harm
Precision medicine research might be used to harm people like me 105 (39.3) 56 (50.5) 44 (32.6) <0.01 37 (33.9) 66 (47.8) 0.03 75 (45.2) 30 (29.7) 0.01
Precision medicine research will not help people like me 101 (37.8) 39 (35.1) 59 (43.7) 0.17 59 (54.1) 38 (27.5) <0.0001 a 49 (29.5) 52 (51.5) <0.001 a
The study would take money away from more important health matters 167 (66.3) 68 (61.3) 97 (71.9) 0.08 85 (78.0) 80 (58.0) <0.001 a 102 (61.8) 65 (74.7) 0.04
Precision medicine research will increase stigma 31 (11.6) 13 (11.7) 17 (12.6) 0.83 11 (10.1) 19 (13.8) 0.38 25 (15.1) 6 (5.9) 0.02
Incentives for participation
Knowing that results of the research will help people with disabilities		 124 (46.4) 59 (53.2) 60 (44.4) 0.17 45 (41.3) 73 (52.9) 0.07 82 (49.4) 42 (41.6) 0.21
Knowing the study is respectful of people with disabilities 154 (57.7) 67 (60.4) 81 (60.0) 0.95 58 (53.2) 89 (64.5) 0.07 98 (59.0) 56 (55.5) 0.56
Distrust
Trust the Oversight Committee to make the right decisions about how my information is used 217 (85.4) 93 (83.8) 118 (88.1) 0.34 99 (90.8) 114 (83.2) 0.08 143 (87.2) 74 (82.2) 0.28
Trust individual researchers are making the best use of my information 218 (86.2) 96 (86.5) 118 (88.7) 0.60 96 (88.1) 116 (84.7) 0.44 142 (87.1) 76 (84.4) 0.56
Incentives for participation
Researchers and healthcare providers lack knowledge of my needs		 108 (40.4) 55 (49.6) 48 (35.6) 0.03 38 (34.9) 65 (47.1) 0.05 85 (51.2) 23 (22.8) <0.0001 a
Knowing researchers are aware of the needs of people like me 184 (68.9) 79 (71.2) 99 (73.3) 0.71 76 (69.7) 101 (73.2) 0.55 120 (72.3) 64 (63.4) 0.13
Study participants should be on the Oversight Committee 118 (44.2) 57 (51.4) 59 (43.7) 0.23 39 (35.8) 77 (55.8) <0.01 87 (52.4) 31 (30.7) <0.001 a
Research participants and researchers should be equal partners 215 (85.7) 96 (86.5) 113 (85.0) 0.74 94 (86.2) 118 (86.8) 0.90 139 (85.3) 76 (86.4) 0.81
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<0.01 indicates P-value between 0.01 and 0.001, <0.001 indicates P-value between 0.001 and 0.0001.

Bold cells are significant using α=0.05

a

Significant using adjusted P-value with Bonferroni-correction at cut-off of 0.0006.

Results and Discussion

Interest in PMR was high in our study. 95.1% of participants believed the hypothetical PMR study should be done; 91.7% agreed that the study could lead to better treatments, cures, and ultimately save lives, and 89.1% said that if asked, they would participate in the study. The majority were willing to contribute biospecimens: 73.7% reported willingness to provide a blood sample, and 65.9% to provide other samples such as urine, saliva, or hair. Participants were less willing to provide environmental samples, such as soil or water from around the home (40.1%), or personal data such as heart rate or step count from a Fitbit (29.6%). Among the possible reasons motivating participation in the study, 63.7% reported interest in “getting more information about my health,” whereas a free Fitbit, free internet, or being compensated for time in the study appeared to be weaker motivators (endorsed by less than 50% of the sample). Results regarding participation were similar across sex, race, and ethnicity categories (Table 2).

Participants’ interest in return of results varied. The majority (68.5%) stated that they would be interested in receiving their genetic results, but only about 50% endorsed the options of ancestry testing, medical records, family history, and lab results. 64.4% of participants were interested in learning whether they had a genetic risk for an untreatable disease, and 56.9% for a treatable disease. Few reported wanting to know if they could be at genetic risk for a bad reaction to certain medications (28.8%). Our study did not provide the opportunity to inquire with participants about their preferences, and no clear trends in preferences for return of results by sex, race, or ethnicity were identified (data not shown). However, the high interest in genetic information among deaf/HoH participants further resonates with support for PMR, where return of results is viewed as a key component for advancing genomic medicine.18

Despite high levels of reported interest in the hypothetical PMR study, barriers to participation (as described below) may be overwhelming. Significantly, 204 (76.4%) endorsed at least one barrier related to communication—inaccessible information about medical research and challenges communicating with healthcare professionals. In addition, the concern over experiencing potential harm (either individually or to the community at large) through involvement in PMR may be a barrier for many. Below, we further elaborate on these barriers and highlight the need for researchers to address these barriers to increase inclusivity in research.

Physical Accessibility

Barriers.

Deaf/HoH participants identified several key physical accessibility barriers to their inclusion in PMR. This may be driven in part by secondary disabilities such as blindness or physical disability (reported in 10.1% of our sample), though it may also be more generally due to lack of communication access (see further below), including the unavailability of equipment to facilitate clinician-patient communication, such as Video Remote Interpreting (VRI).19 50.2% of participants reported that “the equipment in clinics and healthcare facilities are not accessible for me,” and 53.9% endorsed experiencing inaccessibility of transportation to and from study sites. 22.1% of participants described lack of regular access to the Internet, which may make it difficult to identify research opportunities and limit participation. No clear pattern regarding physical inaccessibility was identified across sex, racial, and ethnic subcategories. For example, 62.2% of men but only 45.2% of women reported that equipment is not accessible, but 63.0% of women and only 46.9% of men reported that transportation is a challenge; although p-values were small, neither difference was statistically significant after Bonferroni correction (Table 2).

Recommendations.

Making comprehensive changes in accessibility of clinics and healthcare facilities may not be immediately possible but should be a long-term goal. In the meantime, our findings indicate that there are several easy-to-implement steps that precision medicine studies can take to improve accessibility. These include: providing free transportation to and from study visits, having study visits at accessible locations including non-hospital settings (actions that were endorsed by 62.2% and 44.2% of participants, respectively), and educating healthcare providers on the availability of accessible equipment (including devices for VRI19 or texting with clinicians9), information that many providers (and likely also researchers) may lack.20

Communication

Barriers.

Inaccessibility of information was identified as another major challenge for deaf/HoH participants. 41.2% of our participants reported that information in medical research is not accessible to them. Over half (51.3%) reported that communication with healthcare professionals is difficult and 53.9% reported that they would be more likely to participate if “study results were communicated in understandable ways.” More men (60.4%) compared to women (30.4%) find information in medical research to be inaccessible (p<0.0001), and substantially more non-White (68.3%) than White (41.0%) individuals report that communication is difficult with health professionals (p<0.0001, Table 2). A similar finding was observed for Hispanics, where 67.0% of Hispanic individuals reported that communication with health professionals is difficult, compared to 42.0% of non-Hispanics (p<0.0001).

Recommendations.

Our findings of communication challenges in PMR among deaf/HoH participants is unsurprising. It is a well-documented challenge in clinical care for people with disabilities more generally,21 and a major factor leading to negative interactions with the healthcare system among deaf/HoH individuals.22 Such challenges are further exacerbated for deaf/HoH individuals who communicate primarily through ASL. Some deaf/HoH patients report encountering situations that require them to use suboptimal modes of communication such as lip reading or note writing, rather than having an interpreter provided.23 Ensuring that deaf/HoH individuals who use ASL are provided study information in their preferred language could increase interest in participation. Measures may include: the presence of ASL interpreters, use of remote interpretation services (e.g., VRI) and other apps, and translation of study material (e.g., recruitment material, informed consent, study results) into ASL videos.24 In addition, while all participant-facing study material should be in plain language, interactive formats of communication such as videos should be equipped with captions or ASL translation. Alternatives to phone-based interviews and data collection should be offered in study protocols.25

Fear of Harm

Barriers.

Although precision medicine may offer tailored treatments for conditions unconnected to being deaf (e.g., cancer), our findings indicate that concerns about harm remain significant among deaf/HoH individuals. A considerable proportion (39.3%) of our sample believed that “precision medicine may be used to harm people like me,” while 37.8% thought that “[PMR] will not help people like me.” Further, 66.3% agreed that the hypothetical study would “take money away from more important health matters.” A small percentage of participants felt that PMR would increase stigma among the deaf/HoH community (11.6%). The reasons for this low rate of endorsement for this item can only be speculated and should be further studied. It could be that participants did not sufficiently reflect on the possible negative impacts of PMR, that they do not believe that PMR can lead to stigmatization, or it may reflect the fact that for many it is hard to conceive of experiencing more stigma than already exists.

Differences across racial and ethnic categories were found in harm-related questions, although in the opposite direction from what was expected.26 That is, White participants were more likely to perceive harm due to PMR (45.2%) than non-White participants (29.7%), although the finding was not statistically significant after Bonferroni correction. This may be related to the higher prevalence of heritable deafness-related conditions in White/European ancestry.27 On the other hand, non-White participants were more likely to endorse the view that PMR “would not help people like me” compared to White participants (51.5% vs. 29.5%, p<0.001), with a similar finding seen for Hispanic and non-Hispanic participants (54.1% vs. 27.5%, p<0.0001, Table 2). The latter results may be explained by reduced access to healthcare among racial and ethnic minorities, including those who are deaf/HoH, which could create low expectations of actually experiencing the benefits of new technology.28

Recommendations.

Perceptions of genetic testing among individuals with disabilities are complex. Acts of wrongdoing such as eugenics, in which deafness was seen as a burden to society that should be eliminated, have had lasting impacts.29 Members of the Deaf community have also expressed worries about the use of prenatal testing to screen for embryos with genetic variants that are associated with being deaf, with the expectation that a selective abortion would follow, which may reflect a societal perspective that these lives have lesser value.30 The funds being commercially invested in prenatal screening technologies, while supportive services for individuals living with disabilities are lacking or nonexistent, have further raised frustrations.

It is possible that our participants’ harm-related concerns are grounded in these events, though further research is needed to clarify this issue. Differences between PMR and genetic research also may have contributed to these concerns. Although our survey included a description of PMR, it is often the genetic component that receives the greatest attention. Insofar as PMR intends to move beyond the genetic focus, it will be critical for researchers to highlight the collection and use of both genetic and non-genetic information, efforts to improve understanding of interactions among these factors, and the potential for PMR to offer tailored prevention and treatment options for common diseases (e.g., pharmacogenomic testing in oncology31)—rather than for deaf-related conditions that may be unsupported by deaf and hard of hearing individuals.

In addition, there is a need for researchers to be transparent about the uses of deaf/HoH individuals’ data in PMR and to provide assurance that the data will not be used to harm the community. For example, potential deaf/HoH participants should be informed clearly about the study’s aims, specifically whether the research focuses on hearing ability or common diseases and enabled to opt out of studies that do not comport with their views. Highlighting the direct benefits of the research while addressing concerns over potential for harm could increase trust over time.

Distrust: An overarching barrier

Trust is critical in situations of vulnerability, such as seeking clinical care for an ailment or providing personal information for research. In a physician-patient relationship, trust translates into the belief that a physician will provide care for the patient, while keeping their best interests in mind. Although the researcher-participant relationship is different, PMR has significantly blurred the distinctions between clinical and research settings.13 Research with racial and ethnic minorities further highlights a spillover effect, whereby patients’ lack of trusting relationships with their physicians may result in reduced interest in PMR participation.32

Whether this phenomenon exists also among deaf/HoH patients is currently unknown, but it is likely that participants would feel discomfort in a PMR setting at least similar to what they would experience in clinical care.23 Considerable fears related to the misuse of genetic information in the general population (and thus likely, also among deaf/HoH individuals) are well-documented, including worries about discrimination in health, life and disability insurance, and employment opportunities.33,24 Although trust in individual researchers may be high (86.2% of our sample reported trusting that individual researchers would make the best use of their information), personal trust in one’s clinicians may be more likely to facilitate enrollment in PMR. Such personal trust in a known clinician can be higher than trust in the healthcare (or research) system overall and may assuage some concerns about the uses of their data.32

However, our study suggests that systemic barriers to such trust are likely to exist. 40.4% of our sample believed that researchers and healthcare providers lack knowledge of their needs, and a large majority of participants (68.9%) stated that they would be more likely to participate in the hypothetical PMR if they could be assured that researchers were “aware of the needs of people like [them]”. As discussed above, such knowledge by researchers necessarily includes communication access requirements and health issues: as studies in clinical settings have found, these barriers reduce trust.9 The likelihood of reduced trust in PMR among deaf/HoH individuals in PMR is further augmented given our findings above. One study found that language and accessibility barriers often create feelings of discrimination among people with disabilities.34 A growing number of studies have also documented the negative impact of ineffective communication on trust among deaf/HoH individuals in healthcare systems.9,32 And, there is some evidence to reify these concerns. Research found that healthcare providers express discomfort with deaf patients35 and have limited knowledge—and acceptance—of being Deaf as an identity rather than a medical diagnosis.36 More generally, a large national study of clinicians in the US found that although 56.5% strongly agreed that patients with disabilities are welcome in their clinics, only 40.7% were very confident about their ability to provide equal quality care to patients with disabilities; 18.1% strongly agreed that such patients are unfairly treated in the healthcare system.37 These challenges may lead to distrust of the medical research system, making it the overarching barrier to involvement of deaf/HoH individuals in PMR.

The need to improve trust is not a new idea, especially considering experience with other historically marginalized communities that have been mistreated by medical research entities. A report from focus groups of racial and ethnic minorities regarding involvement in PMR found that willingness to participate was fully contingent upon ensuring the trustworthiness of both the researchers and the larger institutions.32 Yet, research about the various components of trust in PMR and how to increase trustworthiness of PMR is limited; it is entirely absent with regards to deaf/HoH individuals.

One way to begin addressing the challenge of distrust and need for creating trustworthy PMR studies is to conduct community-based participatory research, where community members are equal partners and shared decision-makers in all aspects of study. This approach has been increasingly implemented in genomic studies that aim to augment recruitment of people of color,38 including in the national PMR study, the All of Us Research Program. Although disability community-based participatory research has been limited, it could be a powerful approach to increase trust between deaf/HoH participants and researchers. In our study, 85% of deaf/HoH individuals stated that participants and researchers should be equal partners, and 44.2% endorsed the idea that study participants should be included on an oversight committee to monitor the study, along with doctors, researchers, and perhaps lawyers and community leaders. Deaf/HoH professionals, including clinicians (a growing population39), should also be included. Such individuals are likely to hold both medical and deaf-related expertise and can thus improve understanding of the community’s needs and facilitate trust. Collaborating with community leaders and members to identify research priorities and to assure suitability and acceptability of design and implementation of all aspects of the study could reduce the barriers discussed above. Such collaborations will also enable in-depth exploration of deaf/HoH individuals’ trust in PMR and measures that can enhance the trustworthiness of PMR. Increasing trustworthiness of PMR studies may encourage participation and aid in closing the disparities in research involvement for individuals with disabilities.

Strengths and Limitations

Our sample comprised participants who were recruited through national disability organizations of which they are members, and they are relatively highly educated and affluent. Their views may not fully represent the perspectives of the deaf/HoH population in the United States. In addition, our survey was designed to explore the views of individuals with different disabilities, not only those of deaf/HoH individuals. As a result, survey questions did not single out issues that may be more uniquely relevant for the deaf/HoH population.40 For example, although most of the participants in our study expressed interest in receiving their genetic results (stated generally, “my genetic results”), the interest was lower compared to most other subgroups of people with disabilities, and it may have been even lower if the question specifically inquired about genetic results for being deaf—an issue that has been more controversial among members of the Deaf community.14 Nonetheless, our survey allowed the identification of both overarching and disability subgroup challenges that require researchers’ attention to increase inclusion of people with disabilities in PMR, while future research can further explore the experiences of deaf/HoH individuals and their impact on PMR-related decisions. Finally, the hypothetical nature of the study precludes determination of whether the reported interest in PMR would predict actual enrollment rates. Paradoxically, it is also a strength of our study that genetic testing was not offered to participants. To date, studies on perceptions of genetics have largely offered genetic testing, which can lead to bias towards enrolling individuals who are already interested in genetics and supportive of genetic research. Our study, which is the largest and only study to date to have empirically explored the views of deaf/HoH individuals about PMR, including its genetic component, may thus better represent the interest and perceptions of the general population of deaf/HoH individuals. Our findings on perceived barriers can inform efforts by PMR studies to increase cohort diversity and reduce health disparities.

Conclusions

Deaf/HoH individuals experience significant disparities in health that largely stem from accessibility and communication barriers in healthcare, leaving them vulnerable and potentially distrusting of the medical system. As with other groups who experience health disparities, the voices of deaf/HoH individuals largely have been absent in PMR. To avoid worsening health disparities in the future, populations such as deaf/HoH individuals must be included in PMR. A crucial step in achieving this goal is to better understand the construct of trust in PMR from the perspective of individuals who are deaf/HoH, and how PMR studies can cultivate trust and improve trustworthiness among this population.

Acknowledgements

This work was supported by NHGRI/NIH’s Office of the Director (OD) grant R01HG010868, NHGRI/OD/All of Us Research Program’s grant 3P50HG007257-05S1, and Columbia University’s Precision Medicine: Ethics, Politics and Culture Project, Precision Medicine & Society. We gratefully acknowledge the support of the Association of University Centers on Disabilities (AUCD), the National Council on Independent Living (NCIL), National Federation of the Blind (NFB), the National Association of the Deaf (NAD), and the American Association of Health and Disability (AAHD), which assisted with recruitment, survey material and programming. We also gratefully acknowledge the support of individuals who assisted in this process: Lou Ann Blake, Abiodun Ramroop, Dawn Rudolph, Kelly Buckland, Cara Liebowitz, Mark Starford, Marcia Orland, Kecia Brooke Weller, Charlene Jones, Roberta Carlin, Kathy Guernsey, Amar D. Mandavia, and Dave Kaufman. Finally, we thank the numerous individuals who took the time to participate in our study.

Footnotes

Ethics Declaration

The study protocol was approved by the IRB of the New York State Psychiatric Institute. The survey was anonymous; participants’ consent was obtained online.

Contributor Information

Diana C. Garofalo, Department of Epidemiology, Mailman School of Public Health, Columbia University.

Howard A. Rosenblum, Chief Executive Officer, National Association of the Deaf.

Yuan Zhang, Department of Biostatistics, Mailman School of Public Health, Columbia University.

Ying Chen, Research Scientist and Biostatistician, New York State Psychiatric Institute.

Paul S. Appelbaum, Elizabeth K. Dollard Professor of Psychiatry, Medicine, and Law, and Director, Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral Genetics, Department of Psychiatry, Columbia University

Maya Sabatello, Associate Professor of Medical Sciences (in Medicine), Center for Precision Medicine and Genomics, Department of Medicine; Associate Professor of Medical Sciences (in Medical Humanities and Ethics), Division of Ethics, Department of Medical Humanities and Ethics; and Co-Director of the Precision Medicine: Ethics, Politics, and Culture project, Columbia University, New York, USA.

Data Availability

The authors will make relevant anonymized survey data available to collaborators external to our team upon e-mail request, assuming that we can make appropriate arrangements to safeguard any sensitive information participants might have revealed in the course of the survey and ensure that collaborators receiving data are able to adhere to the expressed preferences and concerns of the researchers and community partners involved in governance of this project.

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Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Data Availability Statement

The authors will make relevant anonymized survey data available to collaborators external to our team upon e-mail request, assuming that we can make appropriate arrangements to safeguard any sensitive information participants might have revealed in the course of the survey and ensure that collaborators receiving data are able to adhere to the expressed preferences and concerns of the researchers and community partners involved in governance of this project.

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