EETTISET KYSYMYKSET GENEETTISEN SAIRAUDEN TESTAUKSESSA

1. EETTISET KYSYMYKSET GENEETTISEN SAIRAUDEN TESTAUKSESSA Tarja Nyrhinen Etiikan teemap�iv� 05.12.2007 The subject of the lecture is ethical issues in those genetic tests which are made to clarify the patient's disease, in other words in diagnostic tests. I am myself interested in the subject because I work in the laboratory and take blood samples from these patients. I warn you that this lecture can become boring because I am going to read a lot of directly from the paper. My language skill is not very good. However, you can ask if you have something unclear and I try to answer at least in Finnish if I can not in English. The subject of the lecture is ethical issues in those genetic tests which are made to clarify the patient's disease, in other words in diagnostic tests. I am myself interested in the subject because I work in the laboratory and take blood samples from these patients. I warn you that this lecture can become boring because I am going to read a lot of directly from the paper. My language skill is not very good. However, you can ask if you have something unclear and I try to answer at least in Finnish if I can not in English.

2. GENEETTINEN TESTI GEENI on DNAn ketjun toiminnallinen yksikk�, joka sijaitsee kromosomissa Geneettisell� testill� selvitet��n DNA/RNAssa, geeniss� tai koko kromosomissa esiintyvi� periytyvi� muutoksia tai rakenteita, jotka aiheuttavat tai todenn�k�isesti aiheuttavat erityisen sairauden tai tilan (SACGT 2000, European Commission 2004). The definition of the genetic test is described as follows: the analyses performed on human deoxyribonucleic acid (DNA), and ribonucleic acid (RNA), genes, and/or chromosomes And the purpose is: to detect heritable or acquired genotypes, mutations, phenotypes, or karyotypes that are causing, or are likely to cause, a specific disease or condition (SACGT 2000, European Commission 2004). Most samples for DNA analysis are taken from venous blood because then can do several tests from one sample,, and because then minimal harm is caused to the patient. ------------------------------- According to definitions of the European Commission (2004), a genetic test is any test that yields genetic data. More specifically, a genetic test detects the presence or absence of, or change in, a particular gene or chromosome, including variants or other inherited polymorphic traits that are not necessarily diagnostic of disease. However, the definitions vary and biochemical tests for gene products such as enzymes and other proteins can be included into genetic tests. In some cases genetic tests can only provide information about the state of genetic material (genotype) without saying much about physical manifestations (phenotype). However, in cases where the gene mutation is manifested phenotypically in all patients who inherit the gene, a genetic test can provide results that are entirely predictive. (K��ri�inen & Hietala 2006.)The definition of the genetic test is described as follows: the analyses performed on human deoxyribonucleic acid (DNA), and ribonucleic acid (RNA), genes, and/or chromosomes And the purpose is: to detect heritable or acquired genotypes, mutations, phenotypes, or karyotypes that are causing, or are likely to cause, a specific disease or condition (SACGT 2000, European Commission 2004). Most samples for DNA analysis are taken from venous blood because then can do several tests from one sample,, and because then minimal harm is caused to the patient. ------------------------------- According to definitions of the European Commission (2004), a genetic test is any test that yields genetic data. More specifically, a genetic test detects the presence or absence of, or change in, a particular gene or chromosome, including variants or other inherited polymorphic traits that are not necessarily diagnostic of disease. However, the definitions vary and biochemical tests for gene products such as enzymes and other proteins can be included into genetic tests. In some cases genetic tests can only provide information about the state of genetic material (genotype) without saying much about physical manifestations (phenotype). However, in cases where the gene mutation is manifested phenotypically in all patients who inherit the gene, a genetic test can provide results that are entirely predictive. (K��ri�inen & Hietala 2006.)

3. TESTIEN ERI TARKOITUKSET� Kantajuuden selvitt�miseen (carrier tests) Ennustamaan sairautta (predictive tests) Selvitt�m��n sairaus (diagnostistic tests) KANTAJUUSTESTIT TUOTTAVAT TIETOA GEENIN MUUTOKSESTA (MUTAATIOSTA) , JOKA EI ILMENe TESTATTAVALLA ,MUTTA VOI SIIRTY� J�LKEL�ISILLE ENNUSTAVAT TESTIT: KATTAA LAAJAN ALUEEN TILANTEITA, MISS� RISKI SAIRASTUMISEEN ON LIS��NTYNYT, MUTTA JOSTA EI KUITENKAAN OLE VARMUUTTA VIEL� OIREETTOMAN TESTAUS KANNATTAA TEHD� SILLOIN, KUN TIEDET��N VARMASTI ETT� SAIRAUS TULEE PUHKEAMAAN MY�HEMMIN TESTATTAVAN EL�M�SS�. (JOS HENKIL� HALUAA!!) SAIRAUSRISKI� TESTATTAESSA , POSITIIVINEN TULOS EI VARMISTA, ETT� HENKIL�LLE VARMASTI PUHKEAA SAIRAUS JA NEGATIIVINE TULOS EI EI MERKITSE, ETTEIK� POTILAALLA OLISI JOTAIN TOISTA GENEETTIST� SAIRAUTTA. KANTAJUUSTESTIT TUOTTAVAT TIETOA GEENIN MUUTOKSESTA (MUTAATIOSTA) , JOKA EI ILMENe TESTATTAVALLA ,MUTTA VOI SIIRTY� J�LKEL�ISILLE ENNUSTAVAT TESTIT: KATTAA LAAJAN ALUEEN TILANTEITA, MISS� RISKI SAIRASTUMISEEN ON LIS��NTYNYT, MUTTA JOSTA EI KUITENKAAN OLE VARMUUTTA VIEL� OIREETTOMAN TESTAUS KANNATTAA TEHD� SILLOIN, KUN TIEDET��N VARMASTI ETT� SAIRAUS TULEE PUHKEAMAAN MY�HEMMIN TESTATTAVAN EL�M�SS�. (JOS HENKIL� HALUAA!!) SAIRAUSRISKI� TESTATTAESSA , POSITIIVINEN TULOS EI VARMISTA, ETT� HENKIL�LLE VARMASTI PUHKEAA SAIRAUS JA NEGATIIVINE TULOS EI EI MERKITSE, ETTEIK� POTILAALLA OLISI JOTAIN TOISTA GENEETTIST� SAIRAUTTA.

4. DIAGNOSTISTEN TESTIEN KEHITYS.� Historiaa�100 vuotta sitten tunnistettu ensimm�inen perinn. sairaus T�ll� hetkell� tunnetaan tarkka geenivirhe jo 2000 sairauteen On olemassa n.900 testi� gen.sairauksien testaukseen, joista Suomessa noin 150 erilaista testi� Geneettiset testit lis��ntyneet 100 % vuosittain Ensi vuosikymmenell� todenn�k�isesti my�s monitekij�isten geneettisten sairauksien testaus mahdollista jopa perusterveydenhuollossa

5. MIKSI GENEETTISET TESTIT OVAT EETTISESTI ONGELMALLISIA ? Selvitt�v�t henkil�n pysyvi� ominaisuuksia Ennustavat terveytt� tulevaisuudessa My�s sukulaiset osallisena Voivat aiheuttaa Leimautumista tai syrjint�� Ristiriitoja perheess� Ahdistusta, stressi� (Green & Botkin 2003, UNESCO 2003) Genetic testing may cause many ethical issues (BTNK 2007). Although genetic information is considered comparable to any other information about the patient�s health, it has certain features that are different compared to other health information. Genetic traits are permanent, it means that the test result does not change even though it is repeated. the genetic features and changes are permanent and no treatment exists at least to most diseases. Genetic testing can predict a person�s medical future, This means that in some diseases it is known beforehand when the patient�s symptoms come out in other words some genetic diseases can be predicted beforehand. The tests produce sensitive information, due to the previous sections the genetic information is sensitive because it is connected to the identity of the human being and his relative. and the results may cause stigmatization, conflicts in the family, and psychological distress. (Green & Botkin 2003, UNESCO 2003.) This section is closely connected to the problems of the informational privacy. On the basis of the research results one can say that the tests can cause distress and fear. Genetic testing may cause many ethical issues (BTNK 2007). Although genetic information is considered comparable to any other information about the patient�s health, it has certain features that are different compared to other health information. Genetic traits are permanent, it means that the test result does not change even though it is repeated. the genetic features and changes are permanent and no treatment exists at least to most diseases. Genetic testing can predict a person�s medical future, This means that in some diseases it is known beforehand when the patient�s symptoms come out in other words some genetic diseases can be predicted beforehand. The tests produce sensitive information, due to the previous sections the genetic information is sensitive because it is connected to the identity of the human being and his relative. and the results may cause stigmatization, conflicts in the family, and psychological distress. (Green & Botkin 2003, UNESCO 2003.) This section is closely connected to the problems of the informational privacy. On the basis of the research results one can say that the tests can cause distress and fear.

6. MITK� EETTISET ONGELMAT KOROSTUVAT YLEENS� GENETTISESS� TESTAUKSESSA? As in this slide we can see some ethical problems of the genetic test which seem to be connected to the getting of the sufficient and understandable information before the testing. It is important also to get the informed consent before the patient participate to the test These problems are connected to ethical principles of respect of autonomy and privacy, but also other principles, such as equality is essential. As in this slide we can see some ethical problems of the genetic test which seem to be connected to the getting of the sufficient and understandable information before the testing. It is important also to get the informed consent before the patient participate to the test These problems are connected to ethical principles of respect of autonomy and privacy, but also other principles, such as equality is essential.

7. EETTISET PERIAATTEETTERVEYDENHUOLLOSSA POTILAAN AUTONOMIA Riitt�v� tiedonsaanti Mahdollisuus itse m��r�t� YKSITYISYYS Tiedollinen yksityisyys OIKEUDENMUKAISUUS Tasa-arvo HYV�N TEKEMINEN/PAHAN V�LTT�MINEN Testin seurauksissa tuloksen saannin j�lkeen (mm. ETENE 2007,BEAUCHAMP & CHILDRESS 2001)

8. TUTKIMUKSEN TARKOITUS 1. Tunnistaa eettiset kysymykset Mink�laisia eettisi� ongelmia geneettisess� testauksessa esiintyy? 2. Kuvailla, vertailla ja selitt�� eettisten periaatteiden toteutumista Miten eettiset periaatteet toteutuvat testauksen aikana ja tuloksen saannin j�lkeen? potilaan autonomian kunnioitus (tiedonsaanti ja itsem��r��minen) tiedollinen yksityisyys tasa-arvo hyv�n tekeminen Onko potilaiden, vanhempien ja henkil�kunnan k�sityksiss� eroja? Mitk� tekij�t ovat yhteydess� periaatteiden toteumiseen? It was two different purposes in my study. First, the aim was to identify ethical issues and second, to describe, to compare and to explain the realization of ethical principles in diagnostic genetic testing. The purpose will be reached by describing and comparing the perceptions of patients or parents of tested children and personnel and by determining the factors that were associated with the realization of ethical principles in pre- and post-analytic phases and in consequences. and the more exact research questions which in this study were answered were following: -------- A. identifying ethical issues 1. What kind of ethical problems are found in genetic testing? 2. What kind of ethical issues are found in diagnostic genetic testing? B. describing, comparing and explaining the realization of ethical principles in diagnostic genetic testing 3. To what extent are autonomy, privacy and equality realized in the pre- and post-analytic testing phases? 4. To what extent is beneficence realized in the consequences for patients� life control, family life and social life? 5. To what extent are the realization of autonomy, privacy, equality and beneficence associated with each other? 6. To what extent are there differences between pre- and post-analytic phases concerning autonomy, privacy and equality? 7. To what extent are there differences between consequences for patients� life control, family life and social life concerning beneficence? 8. To what extent are there differences between patients/parent and personnel on ethical principles? 9. Which background factors are associated with the realization of autonomy, privacy and equality in the pre- and post-analytic phases? 10. Which background factors are associated with the realization of beneficence in the consequences for patients� life control, family life and social life? It was two different purposes in my study. First, the aim was to identify ethical issues and second, to describe, to compare and to explain the realization of ethical principles in diagnostic genetic testing. The purpose will be reached by describing and comparing the perceptions of patients or parents of tested children and personnel and by determining the factors that were associated with the realization of ethical principles in pre- and post-analytic phases and in consequences. and the more exact research questions which in this study were answered were following: -------- A. identifying ethical issues 1. What kind of ethical problems are found in genetic testing? 2. What kind of ethical issues are found in diagnostic genetic testing? B. describing, comparing and explaining the realization of ethical principles in diagnostic genetic testing 3. To what extent are autonomy, privacy and equality realized in the pre- and post-analytic testing phases? 4. To what extent is beneficence realized in the consequences for patients� life control, family life and social life? 5. To what extent are the realization of autonomy, privacy, equality and beneficence associated with each other? 6. To what extent are there differences between pre- and post-analytic phases concerning autonomy, privacy and equality? 7. To what extent are there differences between consequences for patients� life control, family life and social life concerning beneficence? 8. To what extent are there differences between patients/parent and personnel on ethical principles? 9. Which background factors are associated with the realization of autonomy, privacy and equality in the pre- and post-analytic phases? 10. Which background factors are associated with the realization of beneficence in the consequences for patients� life control, family life and social life?

9. TUTKIMUSASETELMA ,,, This study design describe the methods, concepts, papers and purposes in different research stages. In this column the different study stages and methods have been presented. In the middle the central concepts are described and articles the that have been published at each stage and finally the purposes of each stage. Furthermore, based on the results suggestions for improving ethical quality in diagnostic genetic testing are made to be applied in clinical practice and administration as well in staff education. Some suggestions for future research and the nursing science will be proposed, too. In this lecture I will concentrated only on the third study stage and its results. This third stage is based on the results for the two previous stages. This study design describe the methods, concepts, papers and purposes in different research stages. In this column the different study stages and methods have been presented. In the middle the central concepts are described and articles the that have been published at each stage and finally the purposes of each stage. Furthermore, based on the results suggestions for improving ethical quality in diagnostic genetic testing are made to be applied in clinical practice and administration as well in staff education. Some suggestions for future research and the nursing science will be proposed, too. In this lecture I will concentrated only on the third study stage and its results. This third stage is based on the results for the two previous stages.

10. TIEDONKERUU (III-VAIHE) KYSELYLOMAKKEEN SIS�LT� TAUSTAMUUTTUJAKYSYMYKSET POTILAAT/ VANHEMMAT 20 KPL HENKIL�KUNTA 15 V�ITT�M�T AUTONOMIAN KUNNIOITUS TIEDONSAANTI 10 ITSEM��R��MINEN 10 TESTAUKSEN AIKANA TIEDOLLINEN YKSITYISYYS 10 TASA-ARVO 10 HYV�N TEKEMINEN TULOKSEN SAANNIN J�LKEEN POTILAAN OMAAN EL�M�NHALLINTAAN 7 PERHE-EL�M�M��N 4 YHTEISKUNNALLISEEN EL�M��N 11 YHT.62 V�ITT�M�� In research stage III, the data were collected through a structured questionnaire. The questionnaire was developed for this study on the basis of a literature review and theme interview study. In addition to the background variables, the question form contained 89 items what consisted of the realization of information receiving, self-determiniation, informational privacy and equality during testing. Furthermore, there were items which measured the consequences of the testing to the patient� life control, family life and social life. The items were answered on a 5-point scale and how these different principles were defined in this study , it can be seen when we consider study results, later In research stage III, the data were collected through a structured questionnaire. The questionnaire was developed for this study on the basis of a literature review and theme interview study. In addition to the background variables, the question form contained 89 items what consisted of the realization of information receiving, self-determiniation, informational privacy and equality during testing. Furthermore, there were items which measured the consequences of the testing to the patient� life control, family life and social life. The items were answered on a 5-point scale and how these different principles were defined in this study , it can be seen when we consider study results, later

11. VASTAAJARYHM�T VASTAUSPROSENTTI 68 % The final patients/parents sample (n=106) consisted of 33 adult patients and 73 parents (response rate 68%, which was quite good). The final personnel sample consisted of 162 staff members (response rate 62%), including nurses and midwives (n=107), physicians (n=20) and medical laboratory technologists (n=35). Personnel data were collected in the departments of adult and paediatric neurology (n=66), gynaecology/obstetrics (n=49) and clinical genetics (n=7) and in the laboratories (n=40) where staff members most often came into contact with patients who was suspected the have a genetic disease. The final patients/parents sample (n=106) consisted of 33 adult patients and 73 parents (response rate 68%, which was quite good). The final personnel sample consisted of 162 staff members (response rate 62%), including nurses and midwives (n=107), physicians (n=20) and medical laboratory technologists (n=35). Personnel data were collected in the departments of adult and paediatric neurology (n=66), gynaecology/obstetrics (n=49) and clinical genetics (n=7) and in the laboratories (n=40) where staff members most often came into contact with patients who was suspected the have a genetic disease.

12. AINEISTON KERUUPAIKAT 3 SUOMEN YLIOPISTOLLISTA KESKUSSAIRAALAA AIKUISTEN NEUROLOGIAN PKL LASTEN NEUROLOGIAN PKL JA VUODEOSASTOT VASTASYNTYNEIDEN VUODEOSASTOT PERINN�LLISYYSPOLIKLINIKAT LABORATORIO

13. POTILAILLE SUORITETUT GENEETTISET TESTIT In this study, DNA-analysis and chromosome analysis was defined as a genetic test; 32 different tests had been conducted on the patients In this circle those different tests and their purposes are described which to the patients were done. The majority of the tests were chromosome tests which were done to the adults to clarify the reason for the childlessness or infertility -and to the children these were done usually to clarify the development delay and mental retardation The next biggest test group was neurological tests. A few patients participated also in the cancer tests and in other different diagnostic genetic test. Amount of all tests was 125In this study, DNA-analysis and chromosome analysis was defined as a genetic test; 32 different tests had been conducted on the patients In this circle those different tests and their purposes are described which to the patients were done. The majority of the tests were chromosome tests which were done to the adults to clarify the reason for the childlessness or infertility -and to the children these were done usually to clarify the development delay and mental retardation The next biggest test group was neurological tests. A few patients participated also in the cancer tests and in other different diagnostic genetic test. Amount of all tests was 125

14. TULOKSETEETTISTEN PERIAATTEIDEN TOTETUMINEN Generally, the realization of ethical principles was followed fairly well (means between 3.05 and 4.05), most responses falling in categories �neither agree nor disagree� and �agree to some extent�. The means of patients� and parents� answers on the realization of autonomy and beneficence in consequences were higher compared to those of personnel. The highest mean in the patient/parent data was seen in the realization of autonomy (received information and self-determination taken together) and in the personnel group the realization of privacy was best followed, respectively. The lowest mean in the patient/parent data was in the realization of equality and in the personnel group beneficence in the consequences was the most poorly, respectively. Generally, the realization of ethical principles was followed fairly well (means between 3.05 and 4.05), most responses falling in categories �neither agree nor disagree� and �agree to some extent�. The means of patients� and parents� answers on the realization of autonomy and beneficence in consequences were higher compared to those of personnel. The highest mean in the patient/parent data was seen in the realization of autonomy (received information and self-determination taken together) and in the personnel group the realization of privacy was best followed, respectively. The lowest mean in the patient/parent data was in the realization of equality and in the personnel group beneficence in the consequences was the most poorly, respectively.

15. TULOKSET�..TESTIEN SEURAUKSETTULOKSEN SAANNIN J�LKEEN In general, in the realization of beneficence in consequences was evaluated as ambiguous. On beneficial consequences for patient�s life control, family life and social life the assessments of the respondent groups varied from �agree to some extent� to �disagree to some extent� (means between 2.58 and 4.16). Comparison of the two respondent groups for different life areas of the patient�s life showed that the perceptions differed statistically significantly. Personnel have rather negative perceptions in each area of patient�s life, whereas the patients had relatively more positive views. Comparison of the three area of patients� life showed that perceptions between the different life areas differed statistically significantly, too. However, both groups agreed that the consequences were better for the patient�s life control than for family life or social life. In general, in the realization of beneficence in consequences was evaluated as ambiguous. On beneficial consequences for patient�s life control, family life and social life the assessments of the respondent groups varied from �agree to some extent� to �disagree to some extent� (means between 2.58 and 4.16). Comparison of the two respondent groups for different life areas of the patient�s life showed that the perceptions differed statistically significantly. Personnel have rather negative perceptions in each area of patient�s life, whereas the patients had relatively more positive views. Comparison of the three area of patients� life showed that perceptions between the different life areas differed statistically significantly, too. However, both groups agreed that the consequences were better for the patient�s life control than for family life or social life.

16. TIEDON SAANTI ENNEN TESTAUSTA Potilas saa tietoa � In this slide the means of all items is described conserning the information receiving before testing according to both respondent groups On the basis of the p-value one can say that there is no difference in the opinions of groups Both respondent groups ,patients and personnel, thought that most poorly they have obtained information from benefits and risks of the test. and most best they have known about the voluntariness of the testIn this slide the means of all items is described conserning the information receiving before testing according to both respondent groups On the basis of the p-value one can say that there is no difference in the opinions of groups Both respondent groups ,patients and personnel, thought that most poorly they have obtained information from benefits and risks of the test. and most best they have known about the voluntariness of the test

17.  and after the testing ther were differences in the opinions of respondent groups either. and they have been fairly satisfied to all the items, about the �... Only they answered these items who had got a positive result. and after the testing ther were differences in the opinions of respondent groups either. and they have been fairly satisfied to all the items, about the �... Only they answered these items who had got a positive result.

18. HENKIL�KUNNAN KOKEMUKSET GENETTISEST� NEUVONNASTA

19. ITSEM��R��MINEN ENNEN TESTAUSTA On the basis of the P-value there is a difference from the mind of different groups before the testing in the realisation of the self-determining. The personnel saw the self-determining worse than the patients or parents, itself. However according to both groups the possibility to refuse a test is realized best The groups also were at the same opinion about that the patients need more time when they consider participation in the test. On the basis of the P-value there is a difference from the mind of different groups before the testing in the realisation of the self-determining. The personnel saw the self-determining worse than the patients or parents, itself. However according to both groups the possibility to refuse a test is realized best The groups also were at the same opinion about that the patients need more time when they consider participation in the test.

20. p=0.011 TIEDOLLINEN YKSITYISYYS ENNEN TESTAUSTA It seem that when considering privacy, requsition forms are most poorly handled when the messengers and goods lifts transport the document papers from wards to laboratory. The document transport can be in the hospitals usually without the supervision. It seem that when considering privacy, requsition forms are most poorly handled when the messengers and goods lifts transport the document papers from wards to laboratory. The document transport can be in the hospitals usually without the supervision.

21. TULOKSEN SEURAUS POTILAAN EL�M�NHALLINTAAN p<0.0001 These items describe the consequences of the testing for patient�s own life control. the personnel evalueted the consequences for all patients� life areas more negative as the patients and parents itself. The both groups were at the same opinion about that it is good to get the certainty about the desease and to know about the becoming ill beforehand so that they can plan the future. These items describe the consequences of the testing for patient�s own life control. the personnel evalueted the consequences for all patients� life areas more negative as the patients and parents itself. The both groups were at the same opinion about that it is good to get the certainty about the desease and to know about the becoming ill beforehand so that they can plan the future.

22. TULOKSEN SEURAUS�PERHE-EL�M��N p<0.0001 The personnel thought, that the effects of the positive test result on the family life seemed to be much worse than the patients themselves thought that they were. A positive result can cause more guilt and baiming in the families, the members of the family can stigmatise and in the usually conflict situations are created. The personnel thought, that the effects of the positive test result on the family life seemed to be much worse than the patients themselves thought that they were. A positive result can cause more guilt and baiming in the families, the members of the family can stigmatise and in the usually conflict situations are created.

23. TULOKSEN SEURAUS� YHTEISKUNNALLISEEN EL�M��N p<0.0001 Iin the social life the consequences of tests seem to be divided into two parts. On the other hand, the tests there are distinctly many good consequences but in this study many bad consequences also. It is seen good that for example genetic tests can be used to develop treatment methods. The bad consequences are for example fears that the test result can affect job oppurtunities and insurance premiums. Iin the social life the consequences of tests seem to be divided into two parts. On the other hand, the tests there are distinctly many good consequences but in this study many bad consequences also. It is seen good that for example genetic tests can be used to develop treatment methods. The bad consequences are for example fears that the test result can affect job oppurtunities and insurance premiums.

24. TAUSTAMUUTTUJAYHTEYDET�  POTILAISTA/VANHEMMISTA KRIITTISEMPI� OLIVAT... I�LT��N VANHEMMAT POTILAAT/VANHEMMAT KENELL� OLI KORKEAMPI KOULUTUS KEILL� EI OLLUT MIT��N ERITYIST� EL�M�NVAKAUMUSTA KETK� EIV�T OLLEET SAANEET GENETIIKAN ASIANTUNTIJAN NEUVONTAA KENELT� EI OLLUT KYSYTTY SUOSTUMUSTA NORMAALIN TESTITULOKSEN SAANEET PUHELIMELLA VASTAUKSEN SAANEET LAPSETTOMUUSTESTEISS� K�YNEET In this study there were several background variables , which has associations with the realization of ethical principles In the following those factors are presented listed which affected most to the realization of principles In this study there were several background variables , which has associations with the realization of ethical principles In the following those factors are presented listed which affected most to the realization of principles

25. TAUSTAMUUTTUJAYHTEYDET...  HENKIL�KUNNASTA KRIITTISEMPI� OLIVAT� I�LT��N VANHEMMAT VASTAAJAT USEIMMAT LABOARATORIOHOITAJAT VERRATTUNA SAIRAANHOITAJIIN TAI K�TIL�IHIN NE, KETK� EIV�T OLLEET OSALLISTUNEET ETIIKAN TAI GENETIIKAN KOULUTUKSEEN

26. EHDOTUKSET EETTISEN LAADUN PARANTAMISEKSI � KLIINISEEN K�YT�NT��N Genetiikan asiantuntemusta lis�tt�v� osastoilla Potilaille varattava riitt�v� harkinta-aika Tietoisen suostumuksen saaminen t�rke�� Mahdollisten haitallisten seurausten k�sittely ennen testausta Yksil�llisten ominaisuuksien, kuten koulutustason ja el�m�nkatsomuksen huomioiminen Tulosten anto henkil�kohtaisessa tapaamisessa Expertise in genetics should be promoted in patient care units, such as in different medical specialities and primary care. Ethical quality is promoted by increased professional skills and knowledge as well as observation of care and honesty in various counselling and nursing situations. More education related to genetic diseases should be provided at different levels of the education system. At universities and nursing science and health care polytechnics, courses in genetics should be included in the curriculum, This is also recommended by various international expert organizations (ESHG, European Commission) and the International Society of Nurses in Genetics (ISONG). � Before genetic testing In the preparation for testing, adequate time to consider participation in testing should be reserved for the patient or parents of a child patient. In addition, an informed consent for testing and disclosure of its result should be obtained. � The possible harmful consequences of testing should be emphasized, i.e. the harms and benefits for different areas of the patient�s life. Regarding consequences for family life and social life, possible negative consequences should be discussed and the patient�s worries about discrimination in insurance and in the workplace should be taken into consideration. In addition, equal provision of information should be also ensured by taking into account different individual characteristics of patients and parents, such as knowledge level and world view. For example, counselling related to a normal finding and its significance should not be less extensive than counselling related to a possible genetic mutation. However, the seriousness of the genetic diseases tested affects to the content of the counselling, too. �After genetic testing � Genetic counselling or information provision should be based on expertise, take into account the level of knowledge and world view of those being counselled, including the recipients of both negative and positive test results. Both a positive and a negative result should be disclosed during a personal appointment, taking into account those taking part in different tests. When planning tests aimed at relatives, the opinion of patients as well as relatives should be taken into consideration. � Counselling given in the event of a positive result should include more information about the prognosis of the disease or mutation. Up-to-date information about ensuring data protection, such as limiting access to databases and practices concerning storing of genetic material, should be provided in order to minimize worry about violations of informational privacy on the part of patients and parents. Attention should be focused on the patient�s reactions in the event of a positive result, such as fears concerning stigmatization. � Expertise in genetics should be promoted in patient care units, such as in different medical specialities and primary care. Ethical quality is promoted by increased professional skills and knowledge as well as observation of care and honesty in various counselling and nursing situations. More education related to genetic diseases should be provided at different levels of the education system. At universities and nursing science and health care polytechnics, courses in genetics should be included in the curriculum, This is also recommended by various international expert organizations (ESHG, European Commission) and the International Society of Nurses in Genetics (ISONG). � Before genetic testing In the preparation for testing, adequate time to consider participation in testing should be reserved for the patient or parents of a child patient. In addition, an informed consent for testing and disclosure of its result should be obtained. � The possible harmful consequences of testing should be emphasized, i.e. the harms and benefits for different areas of the patient�s life. Regarding consequences for family life and social life, possible negative consequences should be discussed and the patient�s worries about discrimination in insurance and in the workplace should be taken into consideration. In addition, equal provision of information should be also ensured by taking into account different individual characteristics of patients and parents, such as knowledge level and world view. For example, counselling related to a normal finding and its significance should not be less extensive than counselling related to a possible genetic mutation. However, the seriousness of the genetic diseases tested affects to the content of the counselling, too. �After genetic testing � Genetic counselling or information provision should be based on expertise, take into account the level of knowledge and world view of those being counselled, including the recipients of both negative and positive test results. Both a positive and a negative result should be disclosed during a personal appointment, taking into account those taking part in different tests. When planning tests aimed at relatives, the opinion of patients as well as relatives should be taken into consideration. � Counselling given in the event of a positive result should include more information about the prognosis of the disease or mutation. Up-to-date information about ensuring data protection, such as limiting access to databases and practices concerning storing of genetic material, should be provided in order to minimize worry about violations of informational privacy on the part of patients and parents. Attention should be focused on the patient�s reactions in the event of a positive result, such as fears concerning stigmatization. �

27. EHDOTUKSET EETTISEN LAADUN PARANTAMISEKSI HALLINTOON ja KOULUTUKSEEN Eri henkil�kuntaryhmien roolien ja teht�vien selvent�minen potilaiden neuvonnassa Ty�paikkakoulutuksen j�rjest�minen geneettisist� sairauksista ja niiden eettisist� kysymyksist� kaikille henkil�kuntaryhmille Eri koulutustasoille genetiikan kursseja yliopisto, AMK, lukio Suggestions for staff education � On-the-job training in genetics and ethics should be arranged for laboratory staff, nurses and physicians in care units. Basic genetic competencies are necessary for all those working in different medical specialities; that is why joint basic training could be arranged for different professions and specialities. On the other hand, differences in operation and the genetic diseases of patients call for specialized education at a later stage. � In terms of content, on-the-job training in addition to basic medical information, also focus on information on ethical issues applied to practical situations when making a genetic diagnosis, on its potential harmful consequences for the patient�s different life areas and on taking into consideration the values of the patient or the child�s parents. � Suggestions for staff education � On-the-job training in genetics and ethics should be arranged for laboratory staff, nurses and physicians in care units. Basic genetic competencies are necessary for all those working in different medical specialities; that is why joint basic training could be arranged for different professions and specialities. On the other hand, differences in operation and the genetic diseases of patients call for specialized education at a later stage. � In terms of content, on-the-job training in addition to basic medical information, also focus on information on ethical issues applied to practical situations when making a genetic diagnosis, on its potential harmful consequences for the patient�s different life areas and on taking into consideration the values of the patient or the child�s parents. �

28. EHDOTUKSET  JATKOTUTKIMUKSEEN Eri vastaajryhmien v�listen erojen selvitys Empiirisi� innovatiivisia l�hestymistapoja Interventio tutkimuksia, neuvontatapojen vaikutus? Case raportteja Seuranta-tutkimuksia pitemm�ll� aikav�lill� Potilaan asema my�s hoitoon liittyv�n tutkimuksen kohteena? Gen omitiedon lis��ntyminen on luonut tarpeen filosofiseen ja arvojen analyysiin �

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