Patients' Views on Identifiability of Samples and Informed Consent for Genetic Research

Abstract

It is unclear whether the regulatory distinction between non-identifiable and identifiable information—information used to determine informed consent practices for the use of clinically derived samples for genetic research—is meaningful to patients. The objective of this study was to examine patients' attitudes and preferences regarding use of anonymous and identifiable clinical samples for genetic research. Telephone interviews were conducted with 1,193 patients recruited from general medicine, thoracic surgery, or medical oncology clinics at five United States academic medical centers. Wanting to know about research being done was important to 72% of patients when samples would be anonymous and to 81% of patients when samples would be identifiable. Only 17% wanted to know about the identifiable scenario but not the anonymous scenario (i.e., following the regulatory distinction). Curiosity-based reasons were the most common (37%) among patients who wanted to know about anonymous samples. Of patients wanting to know about either scenario, approximately 57% would require researchers to seek permission, whereas 43% would be satisfied with notification only. Patients were more likely to support permission (versus notification) in the anonymous scenario if they had more education, were Black, less religious, in better health, more private, and less trusting of researchers. The sample, although not representative of the general population, does represent patients at academic medical centers whose clinical samples may be used for genetic research. Few patients expressed preferences consistent with the regulatory distinction between non-identifiable and identifiable information. Data from this study should cause policy-makers to question whether this distinction is useful in relation to research with previously collected clinically derived samples.

Keywords:

• genetic research
• identifiable information
• informed consent
• non-identifiable information
• stored samples

Acknowledgment

Funding for this study was provided by the Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health. The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of the manuscript. The authors would like to thank David Wendler, Ezekiel Emanuel, and Colleen McBride for their critical review of drafts of this manuscript, Ellen Wright Clayton for her input on the design of the study, and Liza Dawson for her assistance with recruitment. The authors of this article are responsible for its contents. No statement in this article should be construed as an official position of the National Human Genome Research Institute, National Institutes of Health, or Department of Health and Human Services.

Notes

¹Respondents in this category (i.e., who thought it was important to know about research in the identifiable but not anonymous scenarios) expressed preferences that are consistent with the identifiable/non-identifiable regulatory distinction in 45CFR46.117(c)

¹Reported as odds ratio (95% confidence interval)

²Statistically significant values are indicated in bold

¹This question was asked of those respondents who indicated that it is moderately or very important for them to know research is being done with their sample