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. 2021 Nov 23;22(1):156.
doi: 10.1186/s12910-021-00720-5.

Genetic/genomic testing: defining the parameters for ethical, legal and social implications (ELSI)

Tania Ascencio-Carbajal  1 , Garbiñe Saruwatari-Zavala  2 , Fernando Navarro-Garcia  3   4 , Eugenio Frixione  5   6
Affiliations

Genetic/genomic testing: defining the parameters for ethical, legal and social implications (ELSI)

Tania Ascencio-Carbajal et al. BMC Med Ethics. .

Abstract

Background: Genetic/genomic testing (GGT) are useful tools for improving health and preventing diseases. Still, since GGT deals with sensitive personal information that could significantly impact a patient's life or that of their family, it becomes imperative to consider Ethical, Legal and Social Implications (ELSI). Thus, ELSI studies aim to identify and address concerns raised by genomic research that could affect individuals, their family, and society. However, there are quantitative and qualitative discrepancies in the literature to describe the elements that provide content to the ELSI studies and such problems may result in patient misinformation and harmful choices.

Methods: We analyzed the major international documents published by international organizations to specify the parameters that define ELSI and the recognized criteria for GGT, which may prove useful for researchers, health professionals and policymakers. First, we defined the parameters of the ethical, legal and social fields in GGT to avoid ambiguities when using the acronym ELSI. Then, we selected nine documents from 44 relevant publications by international organizations related to genomic medicine.

Results: We identified 29 ELSI sub-criteria concerning to GGT, which were organized and grouped within 10 minimum criteria: two from the ethical field, four from the legal field and four from the social field. An additional analysis of the number of appearances of these 29 sub-criteria in the analyzed documents allowed us to order them and to determine 7 priority criteria for starting to evaluate and propose national regulations for GGT.

Conclusions: We propose that the ELSI criteria identified herein could serve as a starting point to formulate national regulation on personalized genomic medicine, ensuring consistency with international bioethical requirements.

Keywords: Bioethics; ELSI criteria; Ethical; Genetic testing; Genomic diseases; Genomic medicine; Genomic testing; Healthcare; Legal and social implications; Patient rights; Policy-making.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Flow diagram for selecting GGT-related content in databases of major international ELSI documents
Fig. 2
Fig. 2
ELSI concept fields and their interconnections. The ETHICAL field is located at the top as mainstay for the rest of the fields—LEGAL, SOCIAL and future (+)—, which are placed in a lower hierarchical order. The interconnections between fields and the fuzzy limits among them are also represented
Fig. 3
Fig. 3
Number of sub-criteria covered by each international document divided into ETHICAL, LEGAL and SOCIAL fields. The percentages indicate how much of the total identified sub-criteria is covered by each field
Fig. 4
Fig. 4
GGT Sub-criteria arranged according to the number of documents in which they appear
See this image and copyright information in PMC

References

    1. Khoury MJ. Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med. 2003;5(4):261–268. doi: 10.1097/01.GIM.0000076977.90682.A5. - DOI - PubMed
    1. Burke W. Genetic testing. N Engl J Med. 2002;347(23):1867–1875. doi: 10.1056/NEJMoa012113. - DOI - PubMed
    1. Health IoMURoTG-BRf. Generating evidence for genomic diagnostic test development: workshop summary. the national academies collection: reports funded by national institutes of health. Washington (DC) 2011. - PubMed
    1. Patch C, Sequeiros J, Cornel MC. Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing. Eur J Hum Genet. 2009;17(7):857–859. doi: 10.1038/ejhg.2008.246. - DOI - PMC - PubMed
    1. McEwen JE, Boyer JT, Sun KY, Rothenberg KH, Lockhart NC, Guyer MS. The ethical, legal, and social implications program of the national human genome research institute: reflections on an ongoing experiment. Annu Rev Genomics Hum Genet. 2014;15:481–505. doi: 10.1146/annurev-genom-090413-025327. - DOI - PubMed

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