Managing incidental findings and research results in genomic research involving biobanks and archived data sets

Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using “biobank” here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health. We analyze the responsibilities involved in managing the return of incidental findings and individual research results in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). We suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When reidentification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities to (1) clarify the criteria for evaluating findings and the roster of returnable findings, (2) analyze a particular finding in relation to this, (3) reidentify the individual contributor, and (4) recontact the contributor to offer the finding. We suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors. This article specifies 10 concrete recommendations, addressing new biobanks as well as those already in existence.Genet Med 2012:14(4):361–384     

International normative perspectives on the return of individual research results and incidental findings in genomic biobanks

Managers of genomic biobanks constantly face ethical and legal challenges ranging from issues associated with the informed consent process to procedural concerns related to access by researchers. Yet, with the availability of next-generation sequencing technologies, one topic is emerging as the focus of ongoing debate: the return of individual research results and incidental findings to participants. This article examines this topic from an international perspective, where policies and guidelines discussing the matter in the context of genomic biobanks and genomic research are analyzed and commented. This approach aims to highlight the shortcomings of these international norms, mainly the danger arising from both the therapeutic misconception and the conflation of research results with incidental findings. This article suggests some elements to consider in order to complement available guidance at the international level.Genet Med 2012:14(4):484–489     

An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks

PurposeThe purpose of this study was to examine and document the management and return of individual research results and incidental findings to research participants among biobanks.MethodsA comprehensive Internet search was completed to identify biobanks and collect available documents about biobanks and their procedures and policies regarding the return of results. The Internet search was supplemented by an e-mail request to gather further such documents. A total of 2,366 documents were collected for analysis from a sample of 85 biobanks.ResultsThe major finding of this empirical work is that the majority of the biobanks in the sample do not address the return of individual research results and incidental findings in their publicly available documents.ConclusionThe results suggest that there is a need for more discussion and guidance about the most appropriate ways for biobanks to consider the return of individual research results and incidental findings and generate policies and procedures that address this issue.Genet Med 2012:14(4):444–450     

Practical implementation issues and challenges for biobanks in the return of individual research results

Whether or not to give research results back to individuals whose specimens are used for biomedical research is a subject of considerable controversy. Much of the debate has been focused around the ethical and legal concerns with some consideration of broader social issues such as whether or not people will be affected by such information for employment or health care. Much less attention has been paid to biobanks that collect the specimens used to generate the research findings and the issues and operational requirements for implementing return of individual research results. In this article, we give the biobanks’ perspective and highlight that given the diversity among the types of biobanks, it may be difficult to design and implement a blanket policy in this complex area. We discuss the variability in the types of biobanks and some important issues that should be considered in determining whether or not research results should be provided to individuals whose specimens are used in biomedical research. We also discuss challenges that should be considered in implementing any approaches to the return of research results.Genet Med 2012:14(4):478–483     

Ethical implications of using biobanks and population databases for genetic suicide research

This article provides a review of the ethical considerations that drive research policy and practice related to the genetic study of suicide. As the tenth cause of death worldwide, suicide constitutes a substantial public health concern. Biometrical studies and population‐based molecular genetic studies provide compelling evidence of the utility of investigating genetic underpinnings of suicide. International, federal, and institutional policies regulating research are explored through the lenses of the ethical principles of autonomy, beneficence, non‐maleficence, and justice. Trapped between the Common Rule's definition of human subjects, and the Health Insurance Portability and Accountability Act's protected information, suicide decedent data occupy an ethical gray area fraught with jurisdictional, legal, and social implications. Two avenues of research, biobanks and psychological autopsies, provide tangible application for the ethical principles examining the risks to participants and their families. Additionally, studies surveying public opinion about research methods, especially broad consent, are explored. Our approach of applying the four ethical principles to policy, sample collection, data storage, and secondary research applications can also be applied to genetic research with other populations. We conclude that broad consent for secondary research, as well as next‐of‐kin at the time of autopsy, serve to satisfy privacy and confidentiality under the ethical principle of autonomy. We recommend ongoing ethical evaluation of research policy and practice.     

Consulting the community: public expectations and attitudes about genetics research

Genomic discoveries and technologies promise numerous opportunities for improving health. Key to these potential health improvements, however, are health-care consumers'' understanding and acceptance of these new developments. We identified community groups and invited them to a public information-consultation session in order to explore public awareness, perception and expectations about genetics and genomics research. One hundred and four members of seven community groups in Newfoundland, Canada took part in the community sessions. Content analysis of participant comments revealed they were largely hopeful about genetics research in its capacity to improve health; however, they did not accept such research uncritically. Complex issues arose during the community consultations, including the place of genetics in primary care, the value of genetics for personal health, and concerns about access to and uses of genetic information. Participants unequivocally endorsed the value of public engagement with these issues. The rapid pace of discoveries in genomics research offers exciting opportunities to improve population health. However, public support will be crucial to realize health improvements. Our findings suggest that regular, transparent dialog between researchers and the public could allow a greater understanding of the research process, as well as assist in the design of efficient and effective genetic health services, informed by the public that will use them.     

Personal privacy,public benefits,and biobanks: a conjoint analysis of policy priorities and public perceptions

PurposeTo assess the public’s perception of biobank research and the relative importance they place on concerns for privacy and confidentiality, when compared with other key variables when considering participation in biobank research.MethodsConjoint analysis of three key attributes (research focus, research beneficiary, and privacy and confidentiality) under conditions of either blanket or specific consent.ResultsAlthough the majority of our participants described themselves as private individuals, they consistently ranked privacy and confidentiality as the least important of the variables they considered. The potential beneficiary of proposed research ranked the highest under conditions of both blanket and specific consent. When completing the conjoint task under conditions of blanket consent, participants tended to act more altruistically.ConclusionThe public tends to view biobanks as public goods designed primarily for public benefit. As such it tends to act altruistically with respect to the potential benefits that might accrue from research using biobanked samples. Participants expressed little concern about informational risks (i.e., privacy and confidentiality) should they choose to participate. The manner in which policy priorities are framed could impact participant value preferences with regard to a number of governance issues in biobanking.Genet Med 2012:14(2):229–235     

Biobank research and ethics: the problem of informed consent in Polish biobanks

Introduction

The dynamic development of biobanks causes some ethical, social, and legal problems. The most discussed problems are obtaining informed consent, especially for future research, from minors and from deceased people. The aim of this article is to present the current standards held by Polish biobanks concerning obtaining a participant''s informed consent in some aspects.

Material and methods

Survey was carried out by anonymous questionnaire among 59 institutions which deal with the collecting and storage of human cells and tissues in the year 2008. Twenty four filled-in copies of the questionnaires were sent back (return=41%).

Results

Almost every institution (92%) obtains written consent, but a third of the surveyed institutions (29%) do not obtain consent for the future use of the samples. The majority of the respondents (83%) support the idea of using biological materials for research purposes of a donor who died if he did not leave any written objection to such practices and 46% of respondents stated that biobanks should obtain the consent from the already mature donor who gave their samples as a child.

Conclusions

The practice and rules for obtaining informed consent for the scientific research require improvement. The possibility to use the human materials in the future, conditions for getting access to the data, the possibility of their withdrawal from the database and using the materials and data after the death of the donor should be clearly determined when the informed consent to collect the material is obtained.     

Safety assessment and public concern for genetically modified food products: the European view

The safety assessment for marketing purposes of genetically modified (GM) foods in the 15 Member States of the European Union (EU) is based on the Novel Foods and Novel Food Ingredients Regulation adopted in May 1997. Before a GM food can be approved under the Regulation, it must satisfy three criteria: Gm food must be safe, it must not mislead the consumer and it must be nutritionally adequate. The EU Scientific Committee on Food has published a set of guidelines describing the type of information expected from a company in support of an application for approval of a GM food or food ingredient. Despite this rigorous procedure and there being no evidence of harm resulting from the consumption of GM foods worldwide, there is essentially no market in the EU for such products at present. Possible reasons for this are discussed and the view put forward that the market for GM foods will change only when there are more clearly perceived consumer benefits.     

Safety assessments and public concern for genetically modified food products: the American view

In the relatively short time since their commercial introduction in 1996, genetically modified (GM) crops have been rapidly adopted in the United States GM crops are regulated through a coordinated framework developed in 1992 and administered by three agencies-the US Department of Agriculture (USDA) that ensures the products are safe to grow, the Environmental Protection Agency (EPA) that ensures the products are safe for the environment, and the Food and Drug Administration (FDA) that ensures the products are safe to eat. Rigorous food and environmental safety assessments must be completed before GM crops can be commercialized. Fifty-one products have been reviewed by the FDA, including several varieties of corn, soybeans, canola, cotton, rice, sugar beets, potatoes, tomatoes, squash, papaya, and flax. Because FDA considers these crops "substantially equivalent" to their conventional counterparts, no special labeling is required for GM crops in the United States and they are managed as commodities with no segregation or identity preservation. GM crops have thus made their way through commodity distribution channels into thousands of ingredients used in processed foods. It has been estimated that 70% to 85% of processed foods on supermarket shelves in the United States today contain one or more ingredients potentially derived from GM crops. The food industry and retail industry have been monitoring the opinions of their consumers on the GM issue for the past several years. Numerous independent groups have also surveyed consumer concerns about GM foods. The results of these surveys are shared and discussed here.     

The policies of ethics committees in the management of biobanks used for research: an Italian survey

Gaps in regulations pertaining to the collection and storage of biological materials in a biobank, at least in the European context, have made the writing of local guidelines essential from an ethical point of view. Nevertheless, until recently, the elaboration of local guidelines for the collection, use and storage of biological materials in a biobank has been the exception in Italy and all European countries. In this context, it is of value to know the policies, even if they are unwritten, of local ethics committees (ECs) engaged in the evaluation of research protocols involving biobanks and biological materials. This paper presents the results of a survey carried out among local Italian ECs (229) to document their attitudes and policies regarding the management of the ethical issues related to biobanks and the use of biological materials. A questionnaire was developed to investigate the areas regarded as critical from an ethical–legal point of view: informed consent and information to the subjects; protection of confidentiality; communication of research results; access/transfer of biological materials and related data; ownership of samples and data and intellectual property rights; and subjects'' remuneration and benefit sharing. Twenty-six ECs from the Italian Institutes for Research and Care (62%) and 26 other ECs (14%) participated in the survey.     

Challenges for precision public health communication in the era of genomic medicine

Although still in the early stages of development, the advent of fast, high-output, and cost-effective next-generation DNA sequencing technology is moving precision medicine into public health. Before this shift toward next-generation sequencing in public health settings, individual patients met geneticists after showing symptoms and through limited family screening. In the new era of precision public health, everyone is a possible participant in genetic sequencing, simply by being born (newborn screening), by donating blood (biobanking), or through population screening. These initiatives are increasingly offered to individuals throughout their life and more individuals are encountering opportunities to use DNA sequencing. This article raises awareness of these growing areas and calls for different models of public engagement and communication about genomics, including screening asymptomatic populations, obtaining consent for unspecified and unforeseen future uses of genomic data, and managing variants of uncertain significance. Given that such communication challenges loom large, established norms of practice in genomic medicine and research should be reconsidered.     

Survey of the extent and nature of care for adults and older adults by allergy/immunology practitioners.

BACKGROUND: The proportion of older adults in the US population will increase dramatically in the near future, yet the frequency and nature of care furnished to older adults by Allergy/Immunology practitioners has not been described. OBJECTIVE: To determine the extent and nature of care being provided to adults and older adults by Allergy/Immunology practitioners. METHODS: ACAAI members and fellows were surveyed to obtain information regarding certification and training as well as their practice patterns. RESULTS: The distribution of diagnoses among patients aged 40 to 54 years were very similar to distributions found among adults age 55 to 69 years and > or = 70 years of age. Virtually all respondents indicated they provide inhalant allergen immunotherapy for patients age 40 to 54 years with asthma and/or allergic rhinitis; administration of inhalant allergen immunotherapy for asthma and allergic rhinitis was also frequently reported for adults > or = 55 years. The proportions of respondents providing venom immunotherapy for adults aged 40 to 54, 55 to 69, and > or = 70 years were 82%, 70%, and 39%, respectively. CONCLUSION: ACAAI members and fellows commonly provide care to older adults. Our survey findings highlight the need to develop strategies for successful management of Allergy/Immunology conditions specifically pertaining to older adults, including studies to determine the therapeutic utility of inhalant allergen and venom immunotherapy in this age group.     

Children, biobanks and the scope of parental consent

The use of stored tissue samples from children for genetic research raises specific ethical questions that are not all analogous to those raised when adult participants are concerned. These include issues with regard to consent, as it is typically a parent who consents to the use of samples from children. In this paper, we discuss the scope of parental consent. This scope has a temporal dimension and one related to the content of consent. It is not questioned that the temporal scope of parental consent is limited and that young adults have the right to decide on the fate of their samples when they reach the age of maturity. With regard to the content of consent, the question remains whether parents are allowed to give full broad consent to any possible future research on the samples of their children. We argue that they should not be allowed to do so, based on two premises. First, it is generally acknowledged that children have a right to express their own values and that they should be given the opportunity to develop their own autonomy as they grow older. Second, research and science are not completely value-free and some types of research may be more sensitive than other types. Children should be given the opportunity to express their values also in this respect.