Stakeholders’ perspectives on the post-mortem use of genetic and health-related data for research: a systematic review

Bak, Marieke A. R.; Ploem, M.C.; Ateşyürek, Hakan; Blom, Marieke T.; Tan, Hanno L.; Willems, Dick L.

doi:10.1038/s41431-019-0503-5

Cited by 18 publications

(47 citation statements)

References 55 publications

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“…Thus, in the ARREST study no consent is asked from next-of-kin. While some respondents disagreed with this policy, others said data should be used without consent, for reasons similar to those mentioned by interview participants in other disease areas [ 86 ]. Interviewed next-of-kin seemed more uncomfortable with the idea of post-mortem data use than patients themselves.…”

Section: Discussionmentioning

confidence: 99%

Health data research on sudden cardiac arrest: perspectives of survivors and their next-of-kin

et al. 2021

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Background Consent for data research in acute and critical care is complex as patients become at least temporarily incapacitated or die. Existing guidelines and regulations in the European Union are of limited help and there is a lack of literature about the use of data from this vulnerable group. To aid the creation of a patient-centred framework for responsible data research in the acute setting, we explored views of patients and next-of-kin about the collection, storage, sharing and use of genetic and health-related data for observational research. Methods We conducted qualitative interviews (n = 19) with Dutch sudden cardiac arrest survivors who donated clinical and socio-economic data and genetic samples to research. We also interviewed their next-of-kin. Topics were informed by ethics literature and we used scenario-sketches to aid discussion of complex issues. Results Sudden cardiac arrest survivors displayed limited awareness of their involvement in health data research and of the content of their given consent. We found that preferences regarding disclosure of clinically actionable genetic findings could change over time. When data collection and use were limited to the medical realm, patients trusted researchers to handle data responsibly without concern for privacy or other risks. There was no consensus as to whether deferred consent should be explicitly asked from survivors. If consent is asked, this would ideally be done a few months after the event when cognitive capacities have been regained. Views were divided about the need to obtain proxy consent for research with deceased patients’ data. However, there was general support for the disclosure of potentially relevant post-mortem genetic findings to relatives. Conclusions Sudden cardiac arrest patients’ donation of data for research was grounded in trust in medicine overall, blurring the boundary between research and care. Our findings also highlight questions about the acceptability of a one-time consent and about responsibilities of patients, researchers and ethics committees. Finally, further normative investigation is needed regarding the (continued) use of participants’ data after death, which is of particular importance in this setting. Our findings are thought to be of relevance for other acute and life-threatening illnesses as well.

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Section: Discussionmentioning

confidence: 99%

Health data research on sudden cardiac arrest: perspectives of survivors and their next-of-kin

et al. 2021

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“…Our findings are in line with a previous study on the preference on information of incidental findings in genetic research [ 19 ]. A systematic review showed a high proportion of research participants who agreed on further use of genetic samples after the participant’s death [ 20 ]. There is still a minority who does not want to be informed of incidental findings or disagrees with use after death.…”

Section: Discussionmentioning

confidence: 99%

Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

Waespe

Strebel

Marino

et al. 2021

BMC Med Res Methodol

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Background Research on germline genetic variants relies on enough eligible participants which is difficult to achieve for rare diseases such as childhood cancer. With self-collection kits, participants can contribute genetic samples conveniently from their home. Demographic and clinical factors were identified previously that influenced participation in mailed self-collection. People with pre-existing heritable diagnoses might participate differently in germline DNA collection which might render sampling biased in this group. In this nationwide cross-sectional study, we analysed predictive factors of participation in DNA self-collection including heritable diagnoses. Methods We identified childhood cancer survivors from the Swiss Childhood Cancer Registry for invitation to germline DNA self-sampling in September 2019. Participants received saliva sampling kits by postal mail at their home, were asked to fill them, sign an informed consent, and send them back by mail. Two reminders were sent to non-participants by mail. We compared demographic, clinical, and treatment information of participants with non-participants using univariable and multivariable logistic regression models. Results We invited 928 childhood cancer survivors in Switzerland with a median age of 26.5 years (interquartile range 19-37), of which 463 (50%) participated. After the initial send out of the sampling kit, 291 (63%) had participated, while reminder letters led to 172 additional participants (37%). Foreign nationality (odds ratio [OR] 0.5; 95%-confidence interval [CI] 0.4-0.7), survivors aged 30-39 years at study versus other age groups (OR 0.5; CI 0.4-0.8), and survivors with a known cancer predisposition syndrome (OR 0.5; CI 0.3-1.0) were less likely to participate in germline DNA collection. Survivors with a second primary neoplasm (OR 1.9; CI 1.0-3.8) or those living in a French or Italian speaking region (OR 1.3; CI 1.0-1.8) tended to participate more. Conclusions We showed that half of childhood cancer survivors participated in germline DNA self-sampling relying completely on mailing of sample kits. Written reminders increased the response by about one third. More targeted recruitment strategies may be advocated for people of foreign nationality, aged 30-39 years, and those with cancer predisposition syndromes. Perceptions of genetic research and potential barriers to participation of survivors need to be better understood. Trial registration Biobank: https://directory.bbmri-eric.eu/#/collection/bbmri-eric:ID:CH_HopitauxUniversitairesGeneve:collection:CH_BaHOP Research project: Clinicaltrials.gov: NCT04702321.

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“…Pathological researches based on post-mortem samples provide accessibility to all types of human tissues, which offer better understanding of the disease 1 . Currently, a research autopsy is commonly used, since it allows to expand the knowledge about the complex biology of cancer and the mechanism of metastasis formation 1 , thus there is a wide acceptance of donors’ relatives for the use of post-mortem samples for medical research 2 . These tissues are also extensively used in both clinical and forensic analyses, particularly in the case of toxicological tests 3 , 4 .…”

Section: Introductionmentioning

confidence: 99%

Molecular profiling of the intestinal mucosa and immune cells of the colon by multi-parametric histological techniques

Zadka

Chrabąszcz

Buzalewicz

et al. 2021

Sci Rep

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The impact of the post-mortem interval (PMI) on the optical molecular characteristics of the colonic mucosa and the gut-associated lymphoid tissue (GALT) were examined by multi-parametric measurements techniques. Inflammatory cells were identified by immunohistochemical staining. Molecular parameters were estimated using the Raman spectroscopy (RS) and Fourier Transform Infrared (FTIR) spectroscopic imaging. The 3D refractive index (3D-RI) distributions of samples were determined using the digital holographic tomography. The distribution of immune cells between post-mortem (PM) and normal controls did show significant differences for CD4 (P = 0.0016) or CD8 (P < 0.0001), whose expression level was decreased in PM cases. No association was found between individual PMI values and inflammatory cell distribution. However, there was a tendency for a negative correlation between CD4+ cells and PMI (r = − 0.542, P = 0.032). The alterations ongoing in post-mortem tissue may suggest that PMI has a suppressive effect on the effector properties of the cell-mediated immunity. Moreover, it was confirmed that spectroscopic and digital holotomographic histology are also a useful technique for characterization of the differences in inflammation of varying intensity and in GALT imaging in a solid tissue. Anatomical location of immune cells and methods of tissue fixation determine the molecular and optical parameters of the examined cases.

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Stakeholders’ perspectives on the post-mortem use of genetic and health-related data for research: a systematic review

Cited by 18 publications

References 55 publications

Health data research on sudden cardiac arrest: perspectives of survivors and their next-of-kin

Health data research on sudden cardiac arrest: perspectives of survivors and their next-of-kin

Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland

Molecular profiling of the intestinal mucosa and immune cells of the colon by multi-parametric histological techniques

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