Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012 Jun;13(8):935-49.
doi: 10.2217/pgs.12.59.

Return of research results from pharmacogenomic versus disease susceptibility studies: what's drugs got to do with it?

Affiliations

Return of research results from pharmacogenomic versus disease susceptibility studies: what's drugs got to do with it?

Lynn G Dressler. Pharmacogenomics. 2012 Jun.

Abstract

One of the most controversial ethical issues in genomics research is the return of individual research results to research subjects. As new technologies, including whole-genome sequencing, provide an increased opportunity for researchers to find clinically relevant research results, the questions related to if, when and how individual research results should be returned become more central to the ethical conduct of genomic research. In the absence of federal guidance on this issue, many groups and individuals have developed recommendations and suggestions to address these questions. Most of these recommendations have focused on the return of individual results from disease susceptibility studies. However, in addition to predicting the development of disease, genomic research also includes predicting an individual's response to drugs, especially the risk of developing adverse events. This article evaluates and compares the return of individual research results from disease susceptibility studies versus pharmacogenomic studies.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Health–disease–outcome continuum
As an individual moves along this continuum, he/she moves from being in a healthy state to being in a diseased state, with some type of outcome. When a DSS result is obtained (Tr) it can often result is obtained take years before the event occurs (Tx). By contrast, when a PGxAE (Tr) it may only be days or weeks before the event occurs (Ty). DSS: Disease susceptibility study; PGxAE: Pharmacogenomics study predicting drug adverse events; PGxEFF: Pharmacogenomics study predicting drug effectiveness; Tr: Time of initial research result; Tx: Time to event predicted by the DSS research result; Ty: Time of event predicted by the PGxAE results; Tz: Time to event predicted by the PGxEFF result.

Similar articles

Cited by

References

    1. Dressler LG. Disclosure of research results from cancer genomic studies: state of the science. Clin Cancer Res. 2009;15(13):4270–4276. Systematic review of common themes, areas of controversy and remaining gaps of recommendations and guidelines from federal agencies (NIH, NCI, DOD, NHGRI and OHRP), advisory groups (National Bioethics Advisory Committee) and advocacy groups (National Action Plan on Breast Cancer) regarding the process and conditions for returning genetic or genomic research results. - PubMed
    1. Dressler LG, Smolek S, Ponsaran R, et al. IRB perspectives on the return of individual results from genomic research. Genet Med. 2012;14(2):215–222. - PMC - PubMed
    1. Fabsitz RR, Mcguire A, Sharp RR, et al. Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet. 2010;3(6):574–580. A 28-member multidisciplinary working group was assembled by the National Heart, Lung and Blood Institute in early 2009 to update previous recommendations (2004) on the same topic. The working group produced five recommendations, two of which address the criteria necessary to determine when genetic results should and may be returned to study participants. These two criteria are used to guide the assessment in this paper. - PMC - PubMed
    1. Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med. 2011;13(6):499–504. Excellent analysis of the return of incidental findings from whole-genome sequencing in the context of a clinical environment and clinical care. - PubMed
    1. Wolf SM, Lawrenz FP, Nelson CA, et al. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics. 2008;36(2):219–248. 211. Seminal article on return of incidental findings from genetic and genomic research. Led by SM Wolf, a national group of experts was assembled to address this issue. Recommendations were proposed based on a net-benefit approach to the research participant. - PMC - PubMed

Websites

    1. [Accessed 1 December 2011];NIH genome-wide association studies. http://gwas.nih.gov/pdf/PTC_for_IRBs_and_Institutions_revised5-31-11.pdf. NIH points to consider for IRBs and institutions in their review of data submission plans for institutional certifications. Under NIH’s policy for sharing of data obtained in NIH supported or conducted genome-wide association studies.
    1. National Bioethics Advisory Commission (NBAC) Research involving human biological materials: ethical issues and policy guidance – Volume 1. Report and Recommendations of the National Bioethics Advisory Commission. [Accessed 5 December 2011];1999 http://bioethics.georgetown.edu/nbac/hbm.pdf.
    1. [Accessed 10 May 2012];Clinical Laboratory Improvement Amendment of 1988. Statute 102, PL100-578. www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/IVDRegulatoryAssi....
    1. CDC, Public Health Genomics. [Accessed 1 December 2011];ACCE Model Process for Evaluating Genetic Tests. www.cdc.gov/genomics/gtesting/ACCE.
    1. CDC, Public Health Genomics. [Accessed 1 December 2011];Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) www.cdc.gov/genomics/gtesting/EGAPP/index.htm.