Including the blind community in precision medicine research: findings from a national survey and recommendations

Sabatello, Maya; Blake, Lou Ann; Chao, A.; Silverman, Arielle; Mazzoni, Ronit; Zhang, Yuan; Chen, Ying; Appelbaum, Paul S.

doi:10.1038/s41436-019-0533-y

Cited by 11 publications

(15 citation statements)

References 30 publications

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“…The latter possibility is consistent with our earlier reports that blind/low-vision participants expressed more willingness [39], whereas deaf/hard-of-hearing and autistic participants expressed less willingness to provide various types of data for PMR, e.g., family history and genetics [40]. It is also consistent with other studies showing variance in views about genetic testing among subgroups of people with disabilities.…”

Section: Discussionsupporting

confidence: 92%

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

Sabatello¹,

Zhang²,

Chen³

et al. 2020

Public Health Genomics

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KeywordsDisability · Precision medicine research · Return of results · Medicalization · Marginalization Abstract Purpose: Returning genetic results to research participants is gaining momentum in the USA. It is believed to be an important step in exploring the impact of efforts to translate findings from research to bedside and public health benefits. Some also hope that this practice will incentivize research participation, especially among people from historically marginalized communities who are commonly underrepresented in research. However, research participants' interest in receiving nongenomic medical and nonmedical results that may emerge from precision medicine research (PMR) is understudied and no study to date has explored the views of people with disabilities about return of genomic and nongenomic results from PMR. Methods: In a national online survey of people with disabilities, participants were queried about their interest in receiving biological, environmental, and lifestyle results from PMR (n = 1,294). Analyses describe findings for all of the participants and comparisons for key demographic characteristics and disability subgroups. Re-sults: The participants expressed high interest in biological and health-related results and less interest in other findings. However, the interest among the study participants was lower than that found in comparable studies of the general population. Moreover, this interest varied significantly across gender, race/ethnicity, and disability subgroups. Possible reasons for these differences are discussed. Conclusion: Insofar as return of results from PMR may impact translational efforts, it is important to better understand the role of sociomedical marginalization in decisions about return of results from PMR and to develop strategies to address existing barriers.

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Section: Discussionsupporting

confidence: 92%

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

Sabatello¹,

Zhang²,

Chen³

et al. 2020

Public Health Genomics

Self Cite

View full text Add to dashboard Cite

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“…However, studies we include also focused on patients with other diseases or disabilities. These were patients with chronic inflammatory diseases [ 71 ], chronic kidney disease [ 72 ], patients without a diagnosis, but with conditions presumed to be genetic (“diagnostic odyssey”) [ 64 ], patients with a chronic condition such as diabetes mellitus, hypercholesterolemia or hypertension [ 73 ], drug users (heroin, crack, cannabis) [ 74 ], patients with rare diseases [ 75 ] and people with disabilities [ 76 – 78 ]. Some studies did not provide any information about the condition of the patients included in the study.…”

Section: Resultsmentioning

confidence: 99%

“…The majority of the clinicians, researchers and health professionals surveyed showed a clear willingness to participate, although this willingness is higher when it comes to their own treatment as opposed to that of others [ 47 ]. Among patients there is also a high readiness to participate in trials and donate data or biospecimens [ 62 , 70 , 72 , 76 , 77 , 98 , 99 ], but trust in professionals [ 98 , 101 ], costs, receiving counseling about test results and privacy [ 101 ], as well as the donor’s religion and culture [ 98 ] seem to be important for the decision. Significantly fewer patients support the use of smartphone apps to track lifestyle, behavior or environmental influences [ 72 , 76 , 77 ].…”

Section: Resultsmentioning

confidence: 99%

“…Among patients there is also a high readiness to participate in trials and donate data or biospecimens [ 62 , 70 , 72 , 76 , 77 , 98 , 99 ], but trust in professionals [ 98 , 101 ], costs, receiving counseling about test results and privacy [ 101 ], as well as the donor’s religion and culture [ 98 ] seem to be important for the decision. Significantly fewer patients support the use of smartphone apps to track lifestyle, behavior or environmental influences [ 72 , 76 , 77 ]. Possible factors behind this reluctance could be that this type of self-monitoring continuously confronts patients with their illness and that they get tired by digital interactions.…”

Section: Resultsmentioning

confidence: 99%

“…But PM costs are also problematic for other reasons. For example, professionals [ 45 , 120 ], patients and representatives from patient organizations are concerned about whether health insurance companies will cover the costs [ 51 , 63 , 76 ] or patients can pay for them [ 61 , 95 , 96 ]. And indeed a study from Europe reports a certain reluctance on the part of health insurers to cover the costs for PM, as the evidence is insufficient and incentives too small [ 58 ].…”

Section: Resultsmentioning

confidence: 99%

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Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis

2021

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Background Precision medicine development is driven by the possibilities of next generation sequencing, information technology and artificial intelligence and thus, raises a number of ethical questions. Empirical studies have investigated such issues from the perspectives of health care professionals, researchers and patients. We synthesize the results from these studies in this review. Methods We used a systematic strategy to search, screen and assess the literature for eligibility related to our research question. The initial search for empirical studies in five data bases provided 665 different records and we selected 92 of these publications for inclusion in this review. Data were extracted in a spreadsheet and categorized into different topics representing the views on ethical issues in precision medicine. Results Many patients and professionals expect high benefits from precision medicine and have a positive attitude towards it. However, patients and professionals also perceive some risks. Commonly perceived risks include: lack of evidence for accuracy of tests and efficacy of treatments; limited knowledge of patients, which makes informed consent more difficult; possible unavailability of access to precision medicine for underprivileged people and ethnic minorities; misuse of data by insurance companies and employers, potential of racial stigmatization due to genetic information; unwanted communication of incidental findings; changes in doctor-patient-relationship through focusing on data; and the problem that patients could feel under pressure to optimize their health. Conclusions National legislation and guidelines already minimize many risks associated with precision medicine. However, from our perspective some problems require more attention. Should hopes for precision medicine’s benefits be fulfilled, then the ethical principle of justice would require an unlimited access to precision medicine for all people. The potential for autonomous patients’ decisions must be greatly enhanced by improvements in patient education. Harm from test results must be avoided in any case by the highest possible data security level and communication guidelines. Changes in the doctor-patient relationship and the impact of precision medicine on the quality of life should be further investigated. Additionally, the cost-effectiveness of precision medicine should be further examined, in order to avoid malinvestment.

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Precision medicine and the problem of structural injustice

Green

Prainsack

Sabatello

2023

Med Health Care and Philos

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Many countries currently invest in technologies and data infrastructures to foster precision medicine (PM), which is hoped to better tailor disease treatment and prevention to individual patients. But who can expect to benefit from PM? The answer depends not only on scientific developments but also on the willingness to address the problem of structural injustice. One important step is to confront the problem of underrepresentation of certain populations in PM cohorts via improved research inclusivity. Yet, we argue that the perspective needs to be broadened because the (in)equitable effects of PM are also strongly contingent on wider structural factors and prioritization of healthcare strategies and resources. When (and before) implementing PM, it is crucial to attend to how the organisation of healthcare systems influences who will benefit, as well as whether PM may present challenges for a solidaristic sharing of costs and risks. We discuss these issues through a comparative lens of healthcare models and PM-initiatives in the United States, Austria, and Denmark. The analysis draws attention to how PM hinges on—and simultaneously affects—access to healthcare services, public trust in data handling, and prioritization of healthcare resources. Finally, we provide suggestions for how to mitigate foreseeable negative effects.

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Including the blind community in precision medicine research: findings from a national survey and recommendations

Cited by 11 publications

References 30 publications

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis

Precision medicine and the problem of structural injustice

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