B1_Genetics and Ethics

of 4
All materials on our website are shared by users. If you have any questions about copyright issues, please report us to resolve them. We are always happy to assist you.
  ORIGINAL ARTICLE Genetics and ethics: a possible and necessary dialogue José Roberto Goldim 1 Received: 28 January 2015 /Accepted: 11 May 2015 /Published online: 3 June 2015 # Springer-Verlag Berlin Heidelberg 2015 Abstract  Genetics and ethics have had numerous conver-gences and divergences over time. From Darwin through theAsilomar Conference and the Universal Declaration on theHumanGenomeandHumanRights,muchhasbeenachieved, but much still remains to be done. The use of biological ma-terials that are already being stored and the adequacy of newtechnologies,suchasclusteredregularlyinterspacedshortpal-indromic repeats (CRISPR), are some of the current chal-lenges of this possible and necessary interaction. This paper will discuss some ethical aspects involved in current genetics. Keywords  Genetics .Ethics .Bioethics .CRISPR  .Biobank  .Indigenouspopulations A story in progress Charles Darwin ’ s work   On the srcin of species  (Darwin1859) elicited a tremendous shock by presenting a new per-spective on integrating life. This change in understandingfrom obscure and dogmatic ideas intensified the debate be-tween new knowledge and ancient traditions (Lucas 1979).Scholars reflected on how to overcome this, as for example,Thomas Huxley with his conference on science, religion, andeducation (Huxley 2009). Huxley made a comprehensive ap- proach to these three aspects, without prejudices. Applyingthe biological knowledge generated by Darwin to explain so-cial aspects, as in the case of Eugenia (Galton 1869), onlyincreased the need for this reflection. During the same period,Gregor Mendel proposed his work (Mendel 1866), whichmade no further contributions to the discussion, perhaps be-cause his focus was on plants.In the 20th century, some social applications of the theoryof evolution were negative (Stoddard 1920), whereas otherswere positive (Moreno 1934). The first one used genetics ar-guments to justify racism (Stoddard 1920), while the secondintegrated genetics with social perspectives (Moreno 1934).The further development of genetics, which was already un-derstood as a new area of scientific knowledge, extended manyaspects of hereditary mechanisms, such as the understanding of DNA ’ s structure. In the late 1960s, however, the possibility of changing this structure with the emergence of what was thencalled  genetic engineering   generated new questions.When this DNA alteration was possible, researchers weresurprisedbythemechanismtheynowhadattheirdisposalandthe risks associated with this manipulation. Led mainly byPaul Berg and David Baltimore, a group of scientists from a committee ofthe USNationalAcademy ofSciencesproposeda voluntary moratorium on research in this new area (Bergetal. 1974).Some months later, the results ofthe InternationalConference on Recombinant DNA Molecules, held at Asilomar, California, were published (Berg et al. 1975). TheAsilomar conference was attended by 140 scientists (mostly biologists, as well as medical doctors, and lawyers) and 16 journalists. This conference was a milestone in the history of science, because scientists self-reflected on their own prac-tices.TheAsilomardocumentisaprecursoroftheprecaution-ary principle, which srcinated in the thoughts of Albert Schweitzer (Schweitzer  1999), and was first used in the This article is part of the special issue on  Genetics and Ethics in Latin America *  José Roberto Goldim 1 BioethicsResearchLaboratory,HospitaldeClínicasdePortoAlegre,Medical School Pontifícia Universidade Católica do Rio Grande doSul; and Universidade Federal do Rio Grande do Sul, Lab 12213,Rua Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, BrazilJ Community Genet (2015) 6:193  –  196DOI 10.1007/s12687-015-0232-6  1980s (Raffensperger and Tickner  1999). The precautionary principle states that any risk of serious or irreversible damagerequires taking measures to prevent its occurrence.The challenges of research on human subjects had beendiscussed in light of the abuses committed during World War II, especially with the development of the Nuremberg Code in1947 (Trials of war criminal before the Nuremberg MilitaryTribunals 1949). This document contains a requirement that allparticipantsauthorize,throughinformedconsent,theirinclu-sion in research projects. Numerous other documents incorpo-rated this requirement, such as the Declaration of Helsinki of the World Medical Association (WMA), in 1964.In order to transform words into action, WMA proposed a second version of the Declaration of Helsinki, in 1975, which proposed, among other things, creating research ethics com-mittees that would review all research projects involving hu-man subjects (WMA 1964). The core of this proposal is not new; Thomas Percival, in 1803, had already proposed that allnew innovative applications in health first be discussed withother, more experienced, professionals (Percival 1987). In1976, the National Institutes of Health created, with the same purpose, the first committee on recombinant DNA, based on proposals made at the Asilomar conference (Hutt  1978). Regulatory aspects This reflection on the appropriateness of genetics research, by both scientists and society as a whole, generated the need for rules to guide scientific activity. In the USA, in 1978, theBelmont Report (Ethical Principles and Guidelines for theProtection of Human Subjects of Research), established byThe National Commission for the Protection of Human Sub- jects of Biomedical and Behavioral Research, laid the foun-dation for the current ethical and regulatory system for re-search (USA Government  1978). Many other countries allaroundthe world madeefforts inthe samedirection. InBrazil,the first standards for healthresearch were established in1988(Brasil 1988). Later, in Europe, the Oviedo Convention onHuman Rights and Biomedicine was approved (Council of Europe 1997). It is important to note that neither of thesedocuments, the Belmont Report, Brazilian regulatory state-ment, or Oviedo Convention, mentioned genetics research.In 1996, Brazil established the new Guidelines for Re-search Involving Human Subjects, the Resolution CNS 196/ 96 (Brasil 1996). This regulatory document established eight specialresearchareasthatrequiredlocalandnationalapprovalfor their execution. Research in human genetics was the first special thematic area included in the document. Another spe-cial area in genetics was, specifically, cooperative research between researchers from Brazil and indigenous populations(Brasil 1996). Later, more detailed and specific rules for thesethree special areas were also published (Brasil 1999; 2000; 2004). Other documents also had repercussions for researchin human genetics, such as those relating to storage of biolog-ical material (Brasil 2011).The combination of review directives, regulatory as- pects, and ethical reflections on medical genetics researchhad different effects. Some committees had more famil-iarity with these topics because, in some cases, there wasalready an institutional culture of the ethical appropriate-ness of research, and the researchers were recognized asqualified in their respective areas of scientific expertise.In these institutions, genetic research projects submittedfor evaluation by the research ethics committee had pro-cedures similar to any other projects. However, if an in-stitution was not familiar with a research area, or if theethics committee did not include researchers in the fieldof genetics, the review process was slow and often con-ducted without a proper understanding of the purpose andsuitability of the research. This example from Brazil canalso be applied to other Latin American countries (Lemkeet al. 2010). Genetics, research, and ethics as keywords In order to find similarities and differences between geneticsresearch and ethics between international and Latin Americanscientific literature, a search was conducted using PubMed(US National Library of Medicine 2015) and SciELO(SciELO  –  Scientific Electronic Library Online 2015) data- bases, through January 2015. In the SciELO database, onlyLatin American countries were selected.Using a combination of the keywords  B research ^ ,  B genet-ics ^ , and  B ethics ^ , it was possible to identify 7276 papers published in PubMed and 18 in SciELO using all three key-words in the same article.Twoimportantissueswerealsoevaluated,assubsets,inthesame papers:  B informed consent  ^  and  B indigenous popula-tions ^ . In PubMed, 391 (5.4 %) papers also investigated in-digenous populations; in the SciELO database, there were noreferences found when using the same selection criteria bykeyword. When the keywords were changed to include B informed consent  ^ , 1254 (17.2 %) references in PubMedand 2 (11.1 %) in SciELO were found. The two papers inSciELO were very specific  —  one commented on forensic as- pects and the other on prenatal genetic screening.These data reveal that more scientific information about these topics is necessary, in order to provide a useful back-ground for reflection on important ethical issues. It is, in fact,rather difficult to believe that there were so few publicationson these relevant topics in the SciELO database. These find-ings, especially in SciELO, could be explained by the selec-tion of keywords by the authors. 194 J Community Genet (2015) 6:193  –  196  Ethical reflections and research in genetics The concept of dangerous knowledge, proposed by VanRenselaer Potter, refers to knowledge that accumulates morerapidly than the wisdom required to use it (Potter  1971). Thisconcept had already been linked to genetics research even before the Asilomar conference, at the beginning of the1970s, in an article published in  Time magazine  entitled B Man into superman: the promise and peril of the newgenetics ^  (Paoletti 1974). Recognizing research in geneticsas a source of dangerous knowledge does not entail avoidingorproscribingit. Onthe contrary, recognizing the potential for dangerousknowledgeentailstheneedforextendeddiscussiononthevariousaspects ofresearch,includingethical,legal,andsocial issues (ELSI). This was, perhaps, one of the great leg-acies of the Human Genome Project (HGP), which includedELSI as a part of the project (Knoppers et al. 1996). As a result, a document was published containing proposed guide-lines for research on the human genome (Human GenomeOrganization, HUGO 1996).In the same period, UNESCO asked the International Bio-ethics Committee (IBC) to draw up a document on geneticsand human rights (Lenoir  1997). This was released as theUNESCO ’ s Universal Declaration on the Human Genomeand Human Rights (UNESCO 1997).Despite all of these advances, many ethical, legal, and so-cial issues still deserve to be reflected on in genetic research,such as the use and storage of biological material and precau-tion in the use of new technologies.Currently,thereareadequatestandardsforstorageofbiolog-ical material (Dietrickx and Borry 2009); however, many re-searchershave large biologicalcollectionsindifferentcountriesassociated with old research projects, which were planned andconducted before the current regulatory system was proposed.Using biological material, which the UNESCO Declarationconsiders to be a heritage of humanity (UNESCO 1997),should be discussed to cover all interests associated with it.Stored biological materials have an inestimable scientific value because they are evidence of conditions that often no longer exist, but when they come from traditional populations, such asindigenous groups, other social and historical issues must befactored in to the discussion. The most important is to identifysolutions that align the different perspectives in order to pre-serve both biological and social memory. Novel ethical solu-tions should be used rather than simply applying currently pre-vailing guidelines to situations of the past. Joint and unpreju-diced decisions that include all parties are essential for identi-fying suitable solutions. Reflections are important in thistechno-science era, especially when a new technology is intro-duced and applied to genetic research without major studiesabout ethical and social issues. One of the key issues is theirreversibility of the actions involved and the introduction of newfeatures intothegenepool.Oneof thesenewtechniques isCRISPR (clustered regularly interspaced short palindromic re- peats), which is used to edit portions of the genome. From itsintroduction in 2002 (Jansen et al. 2002) to the present, morethan 1300 papers have been published using this technique. In2012, CRISPR was used to reprogram specific DNA targets(Jinek et al. 2012), leading to new possibilities to generateand introduce synthetic genes using different DNAs, includingthose of animal species that resemble humans (Niu et al. 2014).CRISPR is a good example of the concepts of dangerousknowledge, precautionary principle, and techno-science.Many other aspects involving individuals, society, and naturecould be involved, such as human dignity, justice, respect of  persons, and retrospective and prospective responsibility.The rapiddevelopment of scientific knowledge and immedi-ate implementation of new technologies made it difficult toidentify what is technology and what is science. This idea hadalready been proposed in the 1980s, under the name of techno-science(Hottois1984;Latour 1987),whenscientificknowledge was generated and applied too quickly; it is worth noting that more than 1000 articles were published on CRISPR, from 2012to 2014. The lack of reflection associated with the use of thistechnique is evidenced by the lack of publications that addressit. Despite the many scientific and technological advances asso-ciated with CRISPR, there are only two papers in PubMed with both keywords: CRISPR and ethics. Both are comments: oneaddressing the issue of gene patents (Webber  2014) and theother discusses the issues involved in the trans-humanism asso-ciated with the use of this technology (Nau 2014).Finally, the precautionary principle is an important ap- proach to this issue, because CRISPR meets the criteria for  potentiallyserious and unpredictable risks,ifmeasuresare not implemented to prevent those risks before there is real dam-age.Althoughitismuch morerisky thanDNA fragmentation,which led totheAsilomarConference,orthe HumanGenomeProject, which proposed reflecting on ELSI associated withmapping the human genome, CRISPR has been increasinglyused, but without adequate reflection on its many implica-tions. CRISPR is thus one of the most important challenges presented by ethics and genetic research. Final considerations One ofthe major contributions ofmodernity was toputforth a reflection on what is universal and individual, abstract andconcrete, and objective and subjective (Münch 2001). Genet-ics deals with all of those aspects.Much more than fearing genetic advances, or questioningthe need for ethical reflection on research to implement theseadvances in society, it is essential to rescue and update ethical  zeitgeist   of the 1970s.The complex interaction between genetics and ethics dem-onstrates the need for an interdisciplinary approach to assess J Community Genet (2015) 6:193  –  196 195  the adequacy of genetic practices and the ethical reflectionsabout them. Compliance with ethical standardsConflict of interest  The author declares that he has no conflicts of interest. Ethical approval  This article does not contain any studies with human participants or animals performed by the author. Funding  This study was funded by the FIPE/HCPA (grant number 2014/LAPEBEC). References Berg P, Baltimore D, Boyer HW, Cohen SN, Davis RW, Hogness DS, Nathans D, Roblin R, Watson JD, Weissman S, Zinder ND (1974)Potential biohazards of recombinant DNA molecules. Science 185:303  (letter) Berg P, BaltimoreD, BrennerS,RoblinRO, SingerMF(1975) Summarystatement of the Asilomar conference on recombinant DNA mole-cules. Proc Natl Acad Sci U S A 72:1981  –  1984Brasil (1988) Ministério da Saúde, Conselho Nacional de Saúde. Normas de pesquisaemsaúde.ResoluçãoCNS01/88,Pub.L.No.01/88.Availableat:; accessed on: 10/01/2015Brasil (1996) Ministério da Saúde, Conselho Nacional de Saúde.Diretrizes e normas regulamentadoras de pesquisas envolvendoseres humanos. Resolução CNS 196/96. Available at: www.; accessed on: 10/01/2015Brasil (1999) Ministério da Saúde, Conselho Nacional de Saúde.Pesquisas coordenadas do exterior ou com participação estrangeira.ResoluçãoCNS292/; accessed on: 10/01/2015Brasil (2000)Ministério da Saúde, ConselhoNacional de Saúde.Normas para pesquisas envolvendo seres humanos  –  area de povos indígenas.Resolução CNS 304/2000. Available at: res304.htm; accessed on: 10/01/2015Brasil (2004) Ministério da Saúde, Conselho Nacional de Saúde. Diretrizes paraanáliseeticaetramitaçãodosprojetosdepesquisadaáreatemática especial de genética humana. Resolução CNS 340/04. Available; accessed on: 10/01/2015Brasil (2011) Ministério da Saúde, Conselho Nacional de Saúde.Armazenamento e utilização de material biológico humano em pesquisa. Resolução CNS 441/2011. Available at:; accessed on: 10/01/2015Council of Europe (1997) Convention for the protection of human rightsand dignity of the human being with regard to the application of  biology and medicine: convention on human rights and biomedi-cine. Available at: Html/164.htm; accessed on: 10/01/2015DarwinCR (1859)Ontheoriginofspeciesbymeansofnaturalselection,or the preservation of favoured races in the struggle for life, 1st edn.Murray, LondonDietrickxK,BorryP(2009)Newchallengesforbiobanks:ethics,lawandgovernance. Intersentia, AntwerpGalton F (1869) Hereditary genius. Macmillan, LondonHottois G (1984) Le signe et la technique. La philosophie à l ’ épreuve dela technique. Aubier Montaigne, ParisHuman Genome Organization, HUGO, Ethical, Legal, and Social IssuesCommittee (1996) Principled conduct of genetics research. BullMed Ethics 121:10  –  11HuttPB(1978)ResearchonrecombinantDNAmolecules:theregulatoryissues. South Calif Law Rev 51:1435  –  1450Huxley TH (2009). Science and culture. In: Escritos sobre ciência ereligião, pp. 25  –  58. São Paulo: UNESPJansen R, van Embden JDA, Gaastra W, Schouls LM (2002)Identification of genes that are associated with DNA repeats in pro-karyotes. Mol Microbiol 43:1565  –  1575Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, Charpentier E(2012) A programmable dual-RNA-guided DNA endonuclease inadaptive bacterial immunity. Science 337:816  –  821KnoppersBM,HirtleM,LormeauS(1996)Ethicalissuesininternationalcollaborative research on the human genome: the HGP and theHGDP. Genomics 34:272  –  282Latour B (1987) Science in action. Milton Keynes, Pennsylvania Lemke AA, Trinidad SB, Edwards KL, Starks H, Wiesner GL (2010)Attitudes toward genetic research review: results from a nationalsurvey of professionals involved in human subjects protection. JEmpir Res Hum Res Ethics 5:83  –  91Lenoir N (1997) UNESCO, genetics, and human rights. Kennedy Inst Ethics J 7:31  –  42Lucas JR (1979) Wilberforce and Huxley: a legendary encounter. Hist J22:313  –  330MendelG(1866)Versucheüberpflanzen-hybriden.VerhNaturforschVer Brünn 4:3  –  47Moreno JL (1934) Who shall survive? Beacon House, New York Münch R (2001) The ethics of modernity: formation and transformationin Britain, France, Germany, and the United States. Rowman andLittlefield, Oxford Nau J-I (2014) L ’  affaire «Crispr-Cas9» ou l ’  humanité génétiquement dépassée. Rev Med Suisse 10:1428 a  -1429a  Niu Y, Shen B, Cui Y, Chen Yet al (2014) Generation of gene-modifiedcynomolgus monkey via Cas9/RNA-mediated gene targeting inone-cell embryos. Cell 156:836  –  843Paoletti RA (ed) (1974) The spirit: who will make the choices of life anddeath? In: Selected readings: genetic engineering and bioethics, 2nded, pp. 24  –  30. MSS, New York Percival T (1987) Medical ethics. S. Russell, Manchester Potter VR (1971) Bioethics: bridge to the future. Prentice-Hall,New JerseyRaffensperger C, Tickner JA (1999) Protecting public health and theenvironment: implementing the precautionary principle. IslandPress, Washington DCSchweitzer A (1999) The words of A. Schweitzer. Cousins N (ed). NewYork: New Market PressSciELO  –  Scientific Electronic Library Online (2015). Available at:; accessed on: 10/01/2015Stoddard L (1920) The rising tide of colour against white world-suprem-acy. Charles Scribner  ’ s Sons, New York Trials of war criminal before the Nuremberg Military Tribunals (1949)Control Council Law 10:181  –  182UNESCO (1997) Universal declaration on the human genome and hu-man rights (revised draft). Bull Med Ethics 126:9  –  11US National Library of Medicine (2015) PubMed. Available at:; accessed on: 10/01/2015US Government (1978) The Belmont Report: ethical guidelines for the protection of human subjects. Available at: http://; accessed on: 10/ 01/2015WebberP (2014) Does CRISPR-Cas open new possibilities forpatentsor  present a moral maze? Nat Biotechnol 32:331  –  333WMA (1964) The World Medical Association Declaration of Helsinki.Available at:; accessed on: 10/ 01/2015196 J Community Genet (2015) 6:193  –  196


Aug 16, 2019


Aug 16, 2019
We Need Your Support
Thank you for visiting our website and your interest in our free products and services. We are nonprofit website to share and download documents. To the running of this website, we need your help to support us.

Thanks to everyone for your continued support.

No, Thanks