Family decision maker perspectives on the return of genetic results in biobanking researchby Laura A. Siminoff, Heather M. Traino, Maghboeba Mosavel, Laura Barker, Glencora Gudger, Anita Undale

Genetics in Medicine


Genetics (clinical)


Validation of the U.K. diagnostic criteria for atopic dermatitis in a population setting



1© American College of Medical Genetics and Genomics Original research article


For more than a decade, the bioethics community has deliberated about the best ways to manage and return genetic findings.

Many genetic findings from whole-exome or whole-genome sequencing (WES/WGS) and biobanking projects are not “incidental” but rather are planned outcomes of genetic sequencing and subsequent study of the individual’s genotype.1–3 Current discussions search for an equilibrium that ensures sound research ethics, respects the wishes of the donors, and ultimately acknowledges the limited capacity of researchers to follow-up on findings.4–6 Although disagreement persists, current dialogue is moving toward the return of analytically valid and clinically significant genetic findings with the potential to impact immediate medical care.4,6–9 Yet, many WES/WGS and biobanking projects choose not to return results for a variety of reasons,10–12 including the daunting number of results that could potentially be returned to any one individual.13 Additionally, in contrast to the return of findings in clinical research in which individual participants are known to the research team and reasonable efforts might be made for additional contact, much genetic research is conducted using secondary data— specifically, the anonymized tissue and DNA made available via biobanks and other types of biorepositories—making further contact more difficult.14 The Genotype-Tissue Expression

Project (GTEx), a project of the National Institutes of Health

NIH Common Fund, is establishing a resource database and associated tissue bank to study the relationship between genetic variation and gene expression in multiple reference tissues.15 It is one of the many studies conducted in the United States that currently will not return genetic findings to the family decision makers (FDMs) who donate the tissues of deceased family members.

Empirical studies of the American public, however, indicate support for the return of genetic results. Kaufman and colleagues performed a survey of more than 4,600 adults an found that 9 of 10 wanted genetic risk information returned in exchange for participation in research studies, regardless of the treatability of the disease. The return of results was cited as the most important benefit of donating to a biobank; in fact, three out of four participants would be less likely to donate to a biobank that did not return results.16 Access to clinically actionable results, as well as results that may be inconclusive, difficult to interpret, or of unclear medical significance, is desired. Many participants claim the information would be empowering and provide a sense of control and an opportunity to make lifestyle changes, even if the disease were untreatable.17 In fact, most laypersons maintain that researchers have an obligation to return results based on the principles of reciprocity; additionally, most perceive ownership of any results stemming from the use of their tissue.18 Another study reported that nearly 90% (88.8%) of

Submitted 6 October 2014; accepted 17 February 2015; advance online publication 9 April 2015. doi:10.1038/gim.2015.38

Genet Med 00 00 2015

Genetics in Medicine 10.1038/gim.2015.38

Original Research Article 00 00 6October2014 17February2015 © American College of Medical Genetics and Genomics 9April2015

Purpose: There are many ethical considerations regarding the return of genetic results to biobanking participants, especially when biobanks collect samples from deceased organ and tissue donors that require the authorization of a family decision maker (FDM). This article explores FDM knowledge and opinions regarding return of genetic results in the context of the Genotype-Tissue Expression (GTEx) Project, which does not return results to participants.

Methods: Data collection included a survey completed by Organ

Procurement Organization requesters (n = 22) and semistructured telephone interviews with FDM (n = 55).

Results: Nearly every FDM wanted some form of genetic results returned. Information regarding treatable diseases (94.3%) and diseases that could affect their children (84.9%) were more desirable than that regarding untreatable diseases (71.7%). Sixty percent of

FDMs understood that GTEx would not return genetic results. FDMs were four times more likely to have correct knowledge of the GTEx policy when their GTEx requester reported discussing the topic with them.

Conclusion: FDMs from the GTEx project were interested in receiving genetic test results. Marked changes in the infrastructure of the

GTEx would be required to alter the policy. Regardless, care must be taken to ensure that the return policy is clearly communicated with

FDMs to dispel misconceptions.

Genet Med advance online publication 9 April 2015

Key Words: biobanking; bioethical issues; genetic research; incidental findings; return of results 1Department of Public Health, Temple University, Philadelphia, Pennsylvania, USA; 2Department of Social and Behavioral Health, Virginia Commonwealth University, Richmond,

Virginia, USA; 3Leidos Biomedical Research, Inc. Reston, Virginia, USA. Correspondence: Heather M. Traino (

Family decision maker perspectives on the return of genetic results in biobanking research

Laura A. Siminoff, PhD1, Heather M. Traino, PhD, MPH1, Maghboeba Mosavel, PhD2,

Laura Barker, MA2, Glencora Gudger, MA2, Anita Undale, MD, PhD3; the GTEx Consortium

Genetics in medicine 2Return of genetic results | SIMINOFF et alOriginal research article respondents desired the return of hypothetical genetic findings of uncertain clinical significance.19 In the context of hypothetical pharmacogenetic testing from which incidental findings may be revealed, 69% of adult participants wanted results of uncertain risk.20 Conversely, two-thirds of respondents interviewed (n = 40) were comfortable with a hypothetical biobank’s policy to not return results, unless the findings were about serious health concerns.21 Actual biobanking participants expect findings to be returned. Of 322 surveyed ClinSeq participants, none opted-out of receiving results, citing disease prevention as the motivating factor for disclosure.22 Moreover, half expected to receive actionable, individualized results from participating in the study.23 Nearly all study participants also wanted clinical results returned, and more than 9 of 10 opted to receive future genetic results, even after learning about the potential risks and limitations of the information.24