Informed consent for human genetic and genomic studies: a systematic review

Abstract

As genetic and genomic studies grow in scale, there are ethical concerns related to the collection and use of genetic information. The emergence of large public databases potentially redefine the terms of participation in genetic and genomic research, and suggests the changing application of traditional ethical principles such as privacy or consent. For this study, we wanted to see whether such developments are reflected in the informed consent processes in human genetic and genomic studies. Therefore, we performed a systematic review of the empirical studies that examined informed consent involving large genetic databases in human genetic and genomic studies, grouped the identified issues related to the different stakeholders (including subjects, researchers, and institutional review boards) and discussed the limitations and implications of these findings. Major themes related to the place of bioethical considerations, procured tissues, people involved, process of informed consent and study procedures. Frequently raised issues included confidentiality of participants, documentation of informed consent, public attitudes, future use of participant samples or data, and disclosure of results. Awareness and attention to these bioethical issues as well as assiduousness in managing these concerns in genetic/genomic research would further strengthen and safeguard the rights, safety and well-being of genetic research participants.

Security and Privacy Concerns Regarding Genetic Data in Mobile Health Record Systems: An Empirical Study from Turkey

“…The discrimination between men and women may result in the latter feeling less comfortable sharing their private information with their spouses. Parallel with our results, in the literature, younger age has been associated with greater privacy concerns (Khan A et al, 2014). Oliver et al (Oliver et al, 2012) provided a very interesting interpretation for the difference between the age groups.…”

“…One reason for this may be the privacy concerns of women about genetic tests. However, the results of similar studies on gender differences are not consistent (Khan A, Capps BJ, Sum MY, Kuswanto CN, & Sim K, 2014). For example, Mezuk, Eaton, and Zandi (Mezuk, Eaton, & Zandi, 2008) found no association between genders about consent to donate a biological sample or allow genetic testing or storage of that sample while Green et al (Green et al, 2006) reported that it was men that mostly denied private companies access to their DNA.…”

Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: moving towards a more relational approach

“…Second, the innovativeness, and growth, of more detailed genetic analysis raises questions about the increasing chances of finding genetic predictions or diagnoses that are not related to the reason for the test (so-called incidental findings, or IFs): for example, risks for hereditary cancers amenable to risk-reducing interventions. Specifically, questions arise about how these might be anticipated and incorporated into the consent process and even whether they should be reported if not specifically sought [3–9]. Third, the familial nature of (some) genetic information raises issues about whether confidentiality can best be viewed at the individual or familial level and whose responsibility (if anyone’s) it is to communicate risk to at-risk relatives [10–12].…”

Understandings of genomic research in developing countries: a qualitative study of the views of MalariaGEN participants in Mali

“…Despite increasing amounts of empirical research being conducted on seeking consent to research, to date there is still relatively little literature available on seeking consent in low and middle income countries, specifically in relation to genetic and genomic research [10, 12-18]. Issues about how much information about genomic studies should be provided, and how best to do so, are under-researched [19]. This is an important gap in the literature given the increasing interest in genomic research in low-income settings and in particular in Africa, with initiatives such as H3Africa (www.H3Africa.org).…”