Bioethics in Genetic Research: Concepts and Applications
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Created by: Batch 4 of Genetic Counseling Concentration, Magister of Biomedical Science Diponegoro University, 2010.
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Bioethics in Genetic Research: Concepts and Applications
- 1. BIOethics in genetic research:Concepts and applications 1 Magister of Biomedical Science/ Genetic Counseling Faculty of MedicineDiponegoro University, 2010
- 2. Outline Introduction Societal concerns Responding to genomic advances Focus of moral and bioethical debate Key issues in ethical implications Stem cell research Answers to social concerns 2
- 3. Introduction Consequences of advances in genetic research: Large, comprehensive sets of genetic data New powerful technologies Ethical, legal and social implications (ELSI) Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. 3
- 4. Societal concerns Some examples: Who should have access to personal genetic information, and how will it be used? How do we prepare the public to make informed consent/ choices? How do we prepare healthcare professionals for the new genetics? 4
- 5. Responding to genomic advances We need to: Understand the consequences of genetic advances in individual and society Eg. Allowing to predict individual “fate”, adapt life plans, intervene Assess how to define the ethical boundaries for uses of genomics Discuss science and ethical, legal and social factors of genomic advance to make effective policies Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. 5
- 6. Focus of moral and bioethical debate Respect for autonomy of individuals Appropriate use? Based on moral, rights, rules Redefining concept of disease: Focusing not just on clinical symptoms but also on increased risk and consequences of individual and society Purpose of comprehensive debate Develop guidelines Standards for appropriate use of gene technology Biomedicine should be associated with bio-criticism Ten Have HA. Genetic advances require comprehensive bioethical debate. Croat Med J. 2003 Oct;44(5):533-7. 6
- 7. GWAS Genome wide association studies (GWAS) seek to establish associations between genomic variants and disease or traits. GWAS provide detailed genotype information at high resolution “Genetic libraries” Information from DNA is a personal identifier and can provide information not just on individual but family and group identity. Data is used multiple times by multiple researchers Kaye J, Boddington P, de Vries J, Hawkins N, Melham K. Ethical implications of the use of whole genome methods in medical research. Eur J Hum Genet. 2009 Nov 4. 7
- 8. Key issues in ethical implications Informed consent Individuals have knowledge in advance and choose how personal information is used Potential harm from violation of privacy and misuse of information Data is repeatedly used by multiple researchers, withdrawal from research is difficult and costly Broad consent? Controversial! Feedback of finding When there is serious condition: research team have moral obligation to inform participants 8
- 9. Key issues in ethical implications Privacy of participants Diagnosis of disease -> family, insurance company, employers? De-identifying is difficult for detailed information! Supervision of research Most supervision is at national level enforcement power? 9
- 10. Stem cells? Definition Stem cells are cells that can divide to produce either cells like themselves (self renewal),or cells of one or several specific differentiated types. Origin Animal tissues (Xenotransplantation) Adult stem cells Stem cells of foetal origin Haematopoetic stem cells Foetal tissue Stem cells of embryonic origin iPS 10
- 11. Embryonic Stem Cells Europe: “to ensure adequate protection of the embryo” to prohibit “the creation of human embryos for research purposes” US: Research on human ESC can be if: the cells must be taken from frozen spare embryos from fertility clinics and already destined to be discarded; Federal funds could not be used to destroy the embryos to obtain the cells China: Even if just research, a human embryo should not be destroyed at will Singapore: The concerns over sacrificing embryos are not sufficient to outweigh the advantage of pluripotent Indonesia ?? 11
- 13. Risk benefit assesment (safety and precaution)
- 14. Protection of health of persons involved in clinical trials
- 15. Scientific evaluation of stem cell use for therapeutic purposes
- 16. Anonymity of the donation (donor and recipient)
- 17. Commercialization should be avoided (NO BUSINESS for embryo, fetal, cadaveric tissues)12
- 18. Xenotransplantation Xenografting and xenotransplantation raise no unique ethical problems as long as the principle of voluntary agreement to treatment is observed. Sale and commercial supply of stem cells should preferably be DISALLOWED There is widespread public concern over issues of genetic modification generally. It would be advisable to limit cross-species experimentation except in cases where a clear anticipated benefit is unattainable by other means 13
- 19. Societal Concerns Who should have access to personal genetic information, and how will it be used? How do we prepare the public to make informed consent/choices? How do we prepare healthcare professionals for the new genetics?
- 20. Who Should Have Access to Personal Genetic Information, and How Will It Be Used? 1. Researchers have an obligation to protect the confidentiality of genetic information. a.Universal Declaration on the Human Genome and Human Rights of the UNESCO (1997) : “Genetic data associated with an identifiable person and stored or processed for the purposes of research or any other purpose must be held confidential in the conditions set by law.”
- 21. b. WHO (1998) : “Genetic data is only used to advantage and empower an individual or family, and for better treatment or prevention of disease.” c. Human Genetic Commission (2002) : “Private genetic information should generally not be obtained, held or communicated without the free and informed consent of the individual.”
- 22. 3. Human genetic research is not conducted with the aim of providing research participants with specific information about their genetic status or health. 4. A difficult situation may arise when an individual refuses to disclose a test result which may be medically beneficial to a genetic relative. e.g high risk of developing ca colon
- 23. 5. Genetic Information Nondiscrimination Act (US,2008): a. prohibits US insurance companies and employers from discriminating on the basis of information derived from genetic test. b. Insurers and employers are not allowed under the law to request or demand a genetic test
- 25. High probability both that harm will occur to individuals or society
- 26. The harm that individual would suffer would be serious
- 29. Tissue samples provided for clinical use are also intended for research
- 30. Intention to store the tissue for other future research
- 32. References Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. Kaye J, Boddington P, de Vries J, Hawkins N, Melham K. Ethical implications of the use of whole genome methods in medical research. Eur J Hum Genet. 2009 Nov 4. Ten Have HA. Genetic advances require comprehensive bioethical debate. Croat Med J. 2003 Oct;44(5):533-7. The Bioethics Advisory Committee of Singapore. Genetic Testing and Genetic Research. 2005. The Ethical, Legal and Social Implications (ELSI) Research Program. http://www.genome.gov/10001618 U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome Program. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml 23
Hinweis der Redaktion
- Sebuahartikeldijurnal Nature tahun 2003 menggambarkankemajuanpenelitiangenomdanberbagaikonsekuensi-nyadimasadepan
- Berikutberbagaipertanyaanataukekhawatiran yang timbuldimasyarakatakibatperkembanganteknologigenom
- Kita harus:MemahamikonsekuensiperkembanganpenelitiangenomikterhadapindividudanmasyarakatMemberikanbatasanetikdalammenggunakantekonologigenomikDiskusiantarberbagaipihakuntukmembahasfaktoretik, sosialdanhukum, danselanjutnyadapatmenerapkankebijakan-kebijakanyang sesuaidalampenelitiandanpenggunaanteknologigenomik.
- Artikel yang ditulis Ten Have menggambarkanFokuspadaperdebatan moral danbioetik:PenghargaanterhadapotonomiindividuApakahteknologiinidigunakandengantepat? Dgnpertimbangan moral, hak-hakdasarmanusiadanperaturan yang adaPerlunyamendefinisiulangkonseppenyakit: Bukanhanyagejalaklinistapijugameningkatnyarisikoutkmengalamipenyakittsb yang ditentukanoleh genotype seseorangPerluadanyadiskusimengenai moral danetik, untukmengembangkansuatu guideline/standardlmpemanfaatanteknologitsbPerkembanganilmubiomedikdanaplikasinyaharusselaludirespondengan bio-criticism (terhadapindividu, masyarakat, aspeketik, hukumdansosial)
- Sebagaiilustrasi, salahsatupenelitian yang paling cepatdlmgenomikadalah GWAS, yaitu…GWAS menyediakaninformasi DNA ygsgt detail danspesifikuntuksetiapindividuygmenjadi participant dlmrisetInformasi DNA inimerupakan “personal identifier”, menggambarkanindividu, keluargadanidentitaskelompokPenelitianiniberusahamengumpulkansebanyakmungkinsampel, melibatkankolaborasibanyaknegara, dimanahasilnyadisimpandlmsuatu database internasional yang dapatdiaksesdandigunakan berkali2 olehbanyakpenelitiutkberbagaipenelitianygberbeda Hal2 inikemudianmenimbulkanberbagai “permasalahanetik”….
- Informed ConsentPrinsipdasar = individumemilikihakuntukmenentukanpartisipasinyadlmpenelitiandanmundurkapanpundrpenelitiantsb; memilihbagaimanainformasinyaakandigunakanutksuatupenelitianRisikoygdihadapibukanberuparisikofisik, melainkanrisikopelanggaranprivasidanpenyalahgunaaninformasiData dipertukarkan, mundurdrpenelitiansulitSolusi: broad consent? Yaitupersetujuanuntukmemberikansampeluntukpenelitian berkali2 danpenelitiyg berbeda2 dimasadepan. Kontroversialkarenabertentangandenganprinsipdasartadi.2. Feedback/umpanbalikJikaadatemuan serious/membahayakanpenelitimemilikikewajiban moral untukmemberitahupeserta
- 3. PrivasiSiapa yang berhakmengetahuihasil genetic testing? Keluarga? Perusahaan asuransi? Perusahaan tempatseseorangbekerja (misalnyasebagai screening penerimaanpegawai)? De-identifying sulituntuk data genetik yang sangat detail dan personal sifatnya4. SupervisipenelitianKebanyakanpadatingkatnasionalApakahmemilikiotoritas?
- Adult stem cells progenitor and multipotent stem cells are present in adults.Mammals appear to contain some 20 major types of somatic stem cells that cangenerate liver, pancreas, bone and cartilage but they are rather difficult to find andisolate. For instance, access to neural stem cells is limited since they are locatedin the brain. Haematopoietic stem cells are present in the blood, but theirharvesting requires stimulatory treatment of the donor’s bone marrow. By andlarge, adult stem cells are rare and do not have the same developmental potentialas embryonic orfoetal stem cellsStem cells of foetal origin-Haematopoietic stem cells can be retrieved from the umbilical cord blood.- Foetal tissue obtained after pregnancy termination can be used to derivemultipotent stem cells like neural stem cells which can be isolated from foetalneural tissue and multiplied in culture, though they have a limited life span.Foetal tissue can also give rise to pluripotent EG cells isolated from theprimordial germ cells of the foetus.Stem cells of embryonic originPluripotent ES cells are those which are derivedfrom an embryo at the blastocyst stage. Embryos could be produced either by LQYLWURfertilisation (IVF) or by transfer of an adult nucleus to an enucleated egg cellor oocyte (somatic cell nuclear transfer – SCNT).
- “to ensure adequate protection of the embryo”, that is to say to adopt a legislation fixing the conditions and limits of such research; Ireland ”unborn” has right equal to motherNo legislation on embryo research exists (Belgium, Netherland, Portugal, Italy)Legislation that prohibits any kind of embrio research (Austria, Germany) or authorization with specified condition (Finland, Spain, Sweden, France and UK)
- Free and informed consentFree and informed consent is required not only from the donor but also fromthe recipient as stated in the Group's opinion on Human Tissue Banking(21/07/1998). In each case, it is necessary to inform the donor (the woman orthe couple) of the possible use of the embryonal cells for the specific purposein question before requesting consent.Risk and BenefitRisk-benefit assessment is crucial in stem cell research, as in any research, butis more difficult as the uncertainties are considerable given the gaps in ourknowledge. Attempts to minimise the risks and increase the benefits shouldinclude optimising the strategies for safety. It is not enough to test the culturedstem cells or tissues derived from them for bacteria, viruses or toxicity. Safetyand security aspects are of utmost importance in the transplantation ofgenetically modified cells and when stem cells are derived from somatic cells.For example, the risks that transplanted stem cells cause abnormalities orinduce creation of tumours or cancer have to be assessed. It is important thatthe potential benefits for the patients should be taken into account but notexaggerated. The grounds of a precautionary approach need to be taken intoaccount.Protection of health of persons involved in clinical trialsThe possibility that irreversible and potentially harmful changes are introducedin clinical applications of stem cell research should be minimised. Techniquesenhancing the possibilities of reversibility should be used whenever possible.If, for example, genetically modified cells were encapsulated when they aretransplanted in order to stimulate neural cell growth, it should be possible forthe procedure to be reversed if something goes wrongAnonymity of the donation"in the interests of anonymity, it isprohibited to disclose information that could identify the donor, and therecipient. In general, the donor should not know the identity of the recipient,nor should the recipient know the identity of the donor".Prohibition of commerce in embryos and cadaveric foetal issues The potential for coercive pressure should not be underestimated when thereare financial incentives. Embryos as well as cadaveric foetal tissue must not bebought or sold not even offered for sale. Measures should be taken to preventsuch commercialisation
- Kamiakanmenjelaskantentangpermasalahan-permasalahan yang dapatmunculdidalammasyarakat yang berhubungandenganetikadarisuatupenelitiangenetikadanjugasedikitdaripemeriksaangenetikapadaorangdiduga/dengankelainangenetika, antara lainSiapasaja yang dapatmengetahuihasilpemeriksaan/penelitiangenetikapadaseseorangdanuntuktujuanapamerekaharusmengetahuinya?Bagaimanakitamempersiapkanmasyarakatuntukmemberikanpilihan/ inform consent dalampemeriksaan/penelitiangenetik?Bagaimanakitamempersiapkandirimengikutiperkembanganteknologikedokteran yang pesattermasukdibidanggenetika?
- Siapa saja yang dapat mengetahui hasil dari pemeriksaan/penelitian genetik sesorang?Peneliti wajib untuk melindungi privasi/rahasia dari subyek penelitian serta keluarganya mengenai informasi genetika yang didapat dari penelitian. Hal ini telah diatur dalam : A. Un Decl on the Human Genome & human rights of the unesco (1997): Data genetik berhubungan dengan seseorang dan yang disimpan atau diproses untuk tujuan penelitian harus dijaga kerahasiannya dan telah diatur dlam UU.
- b. WHO pada tahun 1998 menyatakan bahwa data genetik hanya digunakan untuk dimanfaatkan oleh pasien dan keluarga dan untuk mendapatkan terapi yang lebih baik dan pencegahan penyakit.c. HGC (2002) menyatakan bahwa informasi genetik pribadi tidak boleh di………..tanpa ijin dan inform consent pasien.
- 3. Penelitian genetika pd manusia tidak dilakukan dengan tujuan untuk memberikan informasi yang spesifik tentang status genetika dan keshatan pada subyek penelitian karena informasi yg didapat dari penelitian ini masih belum tentu benar/belum diketahui.sehingga perlu dihindari penyampaian informasi yang belum final dari penelitian ini kpd pasien. 4. Situasi yang sulit muncul saat suatu individu menolak untuk membuka hasik pxnya yang seharusnya dapt memberikan info bermanfaat pada anggota keluarga lain. Namun bila tidak menghormati keputusan pasien, dapat bertentangan dengan rahasia pasien dan melanggar informed consent yaitu membuka hasil test pada pihak ketiga. Maka bagaimanapun kita harus menghormati keputusan pasien dengan tidak membuka pada org lain tanpa consent. Namun kita harus menjelaskan secara jelas kepada pasien mengenai dampak positif dan negatif bila tidak menginformasikan hasil pemeriksaan tersebut, walupun keputusan akhir tetep di pihak pasien.
- GINA melarang perusahaan asuransi dan pemberi kerja,mendiskriminasi sesorang berdasarkan informasi pemeriksaan genetik. Contoh : perusahaan asuransi mengurangi biaya asuransi atau meninggikan premi atau pada perusahaan pemberi kerja yaitu dengan memberikan keputusan2 yang merugikan kepada pekerja hanya berdasarkan pada pemeriksaan genetik seseorang. Perusahaan asuransi dan pemberi kerja secara hukum tidak diperbolehkan untuk meminta dilakukannya pemeriksaan genetik pada seseorangSehingga ssorang saat ini bebas untuk melakukan px genetik untuk bbrp pykt tanpa khawatir akan berpengaruh pada pekerjaan atau asuransi kesehatannya.
- Kondisiperkecualiansaatinformasigenetikharusdisampaikankpd org lain walupunhalinitdksesuaidenganhakprivasisesorangContoh : kondisi yang membahayakanpadapihakketigadapatdihindaribila info gen disampaikanNational Medical Ethics Committee diSingapuramenyatakanbahwainformasigenetiksesorangdapatdiberikankepadapihak lain bilatelahterdapatpenjelasandari 2 orangklinisi/dokter yang berbedamengenaiakibatbila info gen tetapdirhasikanwalupunpasientelahpahamakanhalini; kemungkinanbesarakibat yang berbaayadapatterjadipadaorang lain maupunmasybila info gen tetapdirahasiakan, bahaya yang mungkintimbuldapatserius, namunhanya info gen ysngberhubungandengandxdanrxpyktsaja yang dibutuhkan
- Bagaimana kita mempersiapkan masyarakat untuk memberikan pilihan/ inform consent dalam pemeriksaan/penelitian genetik?Peneliti harus memberikan informasi yang jelas kepada subyek penelitian agar mereka yakin akan pilihannya utk bersedia ikut penelitian ini/tidak (contoh sperti yg telah dijelaskan oleh Prof. Tjahjono kul lalu, dalam inform consent harus dijelaskan mengenai tujuan, menfaat, knp mereka dipilih, prosedur , resiko, dll)Bila penelitian menggunakan sampel jaringan atau info gen yang telah tersedia, consent tetap diperlukan dari orang yang telah diambil jaringannta tsb. 3. Pendonor jaringan bebas utk memilih apakah jaringannya boleh digunakan utk semua jenis penelitian atau hanya tertentu saja.
- Keikutsertaan subyek dalam penelitian merupakan sukarela. Peneliti harus mendapatkan inf consent dari subyek penelitian, baik mereka pasien atau bukan:1.Bila seorang klinisi juga seorang peneliti maka dibutuhkan consent yang terpisah dan sebaiknya diambil oleh pihak ketiga untuk mencegah konflik kepentingan dan untuk meyakinkan bahwa kesediaan pasien benar2 sukarela2. Bila sampel jaringan yang digunakan utk kepentingan klinis digunakan juga utk penelitian, maka inf cons jg dibutuhkan.3. Consent jg dibutuhkan bila sampel akan disimpan utk penelitiann mendatang4.Bila subyek penelitian adlah anak2 maka inf cons ddpatkn dari ortu
- Bagaimanakitamempersiapkandirimengikutiperkembanganteknologikedokteran yang pesattermasukdibidanggenetika?Penelitian gen padamnsdiharapkandapatmenghasilkancara-carabarudalammendiagnosis, mencegahdanmengobatikelainangenetiksecaraefektifDiperlukanEdukasikepadadrdantenagakesh lain, pasiendanmasyumumdalamhalpxgenetik yang bisadilakukan, keterbatasannyadanresiko yang dapatmunculSehingganantinyadapatmembantudokterutkdptmengetahuilbhawalpermasalahanygtjdpadapasien, danmungkindapatdilakukanterapipencegahandanbiayabisalebihrendah