Background There is an ongoing global debate regarding the return of individual genetic findings (IGF) in the field of biobanking. Various models for returning these findings are actively discussed, and strategies for their implementation are increasingly being developed in the context of biobanks. This study aims to analyze the perspectives of the public and experts on returning IGF to biobank participants in Lithuania. Additionally, it seeks to contribute to the discussion on identifying the most appropriate IGF return strategy for Lithuanian biobanks. Methods We conducted an empirical study based on a mixed methods approach involving semi-structured interviews with experts and a representative online survey of the general population with a sample of 700 participants. The mixed methods study was conducted in Lithuania in 2021. Both experts and the general population were asked to give their opinion on hypothetical IGF cases with four different scenarios: [<CitationRef CitationID="CR1">1</CitationRef>] “Lynch syndrome” [<CitationRef CitationID="CR2">2</CitationRef>], “Possession of a pathogenic variant associated with Huntington’s disease” [<CitationRef CitationID="CR3">3</CitationRef>], “Possession of a pathogenic variant associated with cystic fibrosis”, and [<CitationRef CitationID="CR4">4</CitationRef>] “Increase in genetic risk of type 2 diabetes”. Results 81–92% of the study participants willing to cooperate with a biobank expressed interest in receiving all types of IGF included in the survey from the biobank. The qualitative study revealed a less uniform opinion among experts regarding the appropriateness of returning these findings. While experts unanimously agreed that biobank participants should be informed about findings indicating an increased risk of treatable monogenic diseases (such as Lynch syndrome), their opinions diverged on the return of other findings (such as possession of a pathogenic variant associated with Huntington’s disease or cystic fibrosis or increase in genetic risk of type 2 diabetes). Conclusions Specifying the current strategy for returning IGF to biobank participants in Lithuania, without expanding the definition of clinically actionable information, is crucial for improving the return of such information to biobank participants. To achieve this, at least two approaches—or a combination of them—can be taken: preparing and using a list of genes and diseases, such as the one outlined in the American College of Medical Genetics guidelines, or applying frameworks and guidelines, like the one proposed by Berg and colleagues, to evaluate the criteria for determining the clinical actionability of IGF.

Returning of individual genetic findings to biobank participants: a mixed methods study results in Lithuania

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2025年7月4日

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Jūratė Lekstutienė,
Rūta Žiliukaitė,
Marija Jakubauskienė,
Eugenijus Gefenas

摘要

Background

There is an ongoing global debate regarding the return of individual genetic findings (IGF) in the field of biobanking. Various models for returning these findings are actively discussed, and strategies for their implementation are increasingly being developed in the context of biobanks. This study aims to analyze the perspectives of the public and experts on returning IGF to biobank participants in Lithuania. Additionally, it seeks to contribute to the discussion on identifying the most appropriate IGF return strategy for Lithuanian biobanks.

Methods

We conducted an empirical study based on a mixed methods approach involving semi-structured interviews with experts and a representative online survey of the general population with a sample of 700 participants. The mixed methods study was conducted in Lithuania in 2021. Both experts and the general population were asked to give their opinion on hypothetical IGF cases with four different scenarios: [1] “Lynch syndrome” [2], “Possession of a pathogenic variant associated with Huntington’s disease” [3], “Possession of a pathogenic variant associated with cystic fibrosis”, and [4] “Increase in genetic risk of type 2 diabetes”.

Results

81–92% of the study participants willing to cooperate with a biobank expressed interest in receiving all types of IGF included in the survey from the biobank. The qualitative study revealed a less uniform opinion among experts regarding the appropriateness of returning these findings. While experts unanimously agreed that biobank participants should be informed about findings indicating an increased risk of treatable monogenic diseases (such as Lynch syndrome), their opinions diverged on the return of other findings (such as possession of a pathogenic variant associated with Huntington’s disease or cystic fibrosis or increase in genetic risk of type 2 diabetes).

Conclusions

Specifying the current strategy for returning IGF to biobank participants in Lithuania, without expanding the definition of clinically actionable information, is crucial for improving the return of such information to biobank participants. To achieve this, at least two approaches—or a combination of them—can be taken: preparing and using a list of genes and diseases, such as the one outlined in the American College of Medical Genetics guidelines, or applying frameworks and guidelines, like the one proposed by Berg and colleagues, to evaluate the criteria for determining the clinical actionability of IGF.