Incidental Findings: The Time Is not yet Ripe for a Policy for Biobanks

Rare diseases (RD) refer to a collection of approximately 5,000-8,000 individual diseases that have a low prevalence and are often genetic in origin. While RD can manifest throughout life, they frequently affect children and newborns. Common characteristics include being severe, disabling, life-threatening, degenerative and affecting different organ systems. The burden of RD is often exacerbated by a lack of specific treatments. Whilst there is etiological heterogeneity, there is overlap in cellular and molecular pathways. Amongst specialists, there is legitimate hope that based on genetic knowledge and pathway definition, a new medical classification system, currently called "precision medicine", will be developed, which may change our view on how to apply shared therapeutic targets. Thus, collection of clinical and genetic data and biospecimens (in biobanks) will play an increasing role in diagnoses and development of therapies for RD. Biobanks are maintained collaboratively by researchers or their institutions, and involve a delicate balance between health policy objectives, academic research, public good outcomes, and community trust. Due to the nature of RD, international cooperation is critical for sharing limited numbers of RD samples and achieving a critical mass. Here we review the current and future direction of RD biobanks and discuss research and development stemming from the use of biospecimens to improve management of RD.

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“…Accordingly, it has recently been argued that the time is not yet ripe for issuing recommendations. 70 …”

Section: Return Of Incidental Findingsmentioning

confidence: 99%

Current trends in biobanking for rare diseases: a review

Graham¹,

Molster²,

Baynam³

et al. 2014

BSAM

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“…2 However, it has been suggested that participants should be offered individual genetic information, such as incidental findings (IFs). 3 The main arguments for disclosure of IFs, presented in a synopsis of the argumentative field 4 are that it can benefit participants' health, promote participants' autonomy and support reciprocity between participants and research groups. In addition, research can benefit from offering genetic information to participants, because it can increase participation when people find that they can have personal gain from participating, 5 and recontacting participants if something of great importance is discovered can maintain the general public's trust in research.…”

Section: Introductionmentioning

confidence: 99%

Freedom of Choice About Incidental Findings Can Frustrate Participants' True Preferences

Viberg¹,

Segerdahl²,

Langenskiöld³

et al. 2015

Bioethics

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Ethicists, regulators and researchers have struggled with the question of whether incidental findings in genomics studies should be disclosed to participants. In the ethical debate, a general consensus is that disclosed information should benefit participants. However, there is no agreement that genetic information will benefit participants, rather it may cause problems such as anxiety. One could get past this disagreement about disclosure of incidental findings by letting participants express their preferences in the consent form. We argue that this freedom of choice is problematic. In transferring the decision to participants, it is assumed that participants will understand what they decide about and that they will express what they truly want. However, psychological findings about people's reaction to probabilities and risk have been shown to involve both cognitive and emotional challenges. People change their attitude to risk depending on what is at stake. Their mood affects judgments and choices, and they over- and underestimate probabilities depending on whether they are low or high. Moreover, different framing of the options can steer people to a specific choice. Although it seems attractive to let participants express their preferences to incidental findings in the consent form, it is uncertain if this choice enables people to express what they truly prefer. In order to better understand the participants' preferences, we argue that future empirical work needs to confront the participant with the complexity of the uncertainty and the trade-offs that are connected with the uncertain predictive value of genetic risk information.

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“…There is currently no overall consensus on when to tell and when not to tell 4 participants of incidental findings (Viberg et al, 2014). Careful planning of procedures to satisfy local 5 or national expectations are therefore necessary to ensure that donor interests are managed 6…”

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confidence: 99%

A primer for managing international collaboration and legal compliance in biobank based genomics

Klingström

Bongcam‐Rudloff

Reichel

2016

Preprint

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Resolving ethical and legal concerns is a time consuming but rarely insurmountable task when obtaining samples from biobanks. The BBMRI-LPC project has throughout its lifetime resolved numerous such issues and intense communication between involved researchers and experts have been necessary to resolve various issues. To facilitate efficient communication it is useful for non-experts to have an at least basic understanding on how the regulatory system for managing biological samples is constructed to balance the sometimes conflicting needs of privacy, trust and scientific progress. Although laws regulating research oversight have been implemented differently in every country, there is a similarity of core principles founded on international charters. These core principles are based on the concept of consent and actions taken by the biobank in regards to sample usage rely on either an explicit or presumed consent. In interview studies among donors chief concerns among donors are focused on privacy, efficient sample utilization and if donors are given access to information generated from their samples. Despite a lack of clear evidence regarding which concern takes precedent among donors, scientific as well as public discourse has largely focused on privacy concerns and the right of donors to control the usage of their samples. As a result biobank governance has taken a largely negative approach to uncertainties in sample utilization. This mean that sample usage is likely to be restricted if there is any uncertainty if the intended usage is in line with donor expectations. To help biobank professionals avoid making unnecessary mistakes we have developed this basic primer covering the relationship between ethics and law, the concept of informed consent and consideration for returning findings to donors.

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Incidental Findings: The Time Is not yet Ripe for a Policy for Biobanks

Cited by 9 publications

References 27 publications

Current trends in biobanking for rare diseases: a review

Current trends in biobanking for rare diseases: a review

Freedom of Choice About Incidental Findings Can Frustrate Participants' True Preferences

A primer for managing international collaboration and legal compliance in biobank based genomics

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