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ETHICAL ISSUES IN DIAGNOSTIC GENETIC TESTING

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Title: ETHICAL ISSUES IN DIAGNOSTIC GENETIC TESTING


1
ETHICAL ISSUES IN DIAGNOSTIC GENETIC TESTING
  • Tarja Nyrhinen
  • Syksy 2007

2
WHAT IS A GENETIC TEST? (SACGT 2000, European
Commission 2004).
  • the analyses performed on human deoxyribonucleic
    acid (DNA), and ribonucleic acid (RNA), genes,
    and chromosomes
  • to detect heritable genotypes, mutations,
    phenotypes, or karyotypes that are causing, or
    are likely to cause, a specific disease or
    condition

3
INDICATIONS OF GENETIC TESTING
  • carrier tests
  • predictive tests
  • diagnostic tests

4
WHY GENETIC TESTING IS ETHICALLY PROBLEMATIC ?
  • Genetic traits are permanent
  • Genetic testing can predict a persons medical
    future
  • Tests (can) produce
  • Sensitive information
  • Stigmatization
  • Family discord
  • Psychological distress
  • (Green Botkin 2003, UNESCO 2003)

5
WHAT KIND OF ARE THE ETHICAL PROBLEMS?
6
STUDY DESIGN
  • ,,,

I
7
PURPOSE OF STUDY
  • 1. Identifying ethical issues
  • What kind of ethical problems are found in
    genetic testing?
  • What kind of ethical issues are found in
    diagnostic genetic testing?
  • 2. Describing, comparing and explaining the
    realization of ethical principles in diagnostic
    genetic testing 
  • To what extent are
  • autonomy
  • (information receiving,self-determination)
  • privacy
  • equality
  • realized in the pre- and post-analytic phases
  • beneficence realized in the consequences for
    patients life control, family life and social
    life?
  • To what extent are there differences between
    patients/parent and personnel on ethical
    principles?
  • Which background factors are associated with the
    realization of autonomy, privacy and equality and
    beneficence in the consequences?

8
DATA COLLECTION (in stage III)
  • INSTRUMENT
  • STRUCTURED QUESTIONNAIRE
  • demographic background factors (15-20)
  • items (89) concerning ethical principles
  • information receiving patientsautonomy
  • self-determination
  • privacy (informational)
  • equality
  • beneficence in consequences
  • for life control
  • for family life
  • for social life

9
DATA COLLECTION.
Systematic sampling 2003-2004 in 3 Finnish
university hospitals, from
  • PATIENTS OR PARENTS
  • who game for genetic blood
  • testing in laboratory
  • PERSONNEL
  • who involved the care of genetic patient

10
RESPONDENT GROUPS
  • RESPONSE RATE 68

RESPONSE RATE 62
11
DIFFERENT TESTSPERFORMED TO ON PATIENTS
32 different testsAmount of tests 125
12
DATA ANALYSIS
  • SAS 8.1 statistical software
  • Chi square test
  • Repeated-measures analysis of variance
  • Repetition factor
  • Pearson Correlation Coefficients
  • T-test for independent samples
  • Paired t-test
  • Analysis of variance
  • Tukeys Studentized Range
  • Multi-way analysis of variance
  • Mean scores (4 sum variables) for ethical
    principles of autonomy, privacy, equality and
    beneficence in consequences
  • P-values lt0.05 were considered as statistically
    significant

13
RESULTSREALIZATION OF ETHICAL PRINCIPLES
ns no significance,plt.05,pgt.01,pgt.00
1
14
CONTINUE.. CONSEQUENCES
(BENEFICENCE) IN GENETIC
TESTS

plt.0001
15
RECEIVED INFORMATION IN THE PRE-ANALYTIC PHASE
PURPOSE OF THE TEST
5
4
RESULTS MEANING TO TREATMENT
3
BENEFITS AND RISKS OF THE TEST
2
1
0
VOLUNTARINESS TO BE TESTED
WAITING TIME FOR THE RESULT
RELIABILITY OF THE TEST
PATIENTS/PARENTS
PERSONNEL
p0.56
16

RECEIVED INFORMATIONIN THE POST-ANALYTIC PHASE
ABOUT THE EFFECTS OF POSSIBLE
GENETIC MUTATION IN PATIENTS' LIFE
5
4
3
2
ABOUT RISKS POSED TO RELATIVES
ABOUT THE PROGNOSIS RELATING TO
1
BY POSSIBLE GENETIC MUTATION
POSSIBLE GENETIC MUTATION
ABOUT TREATMENT POSSIBILITIES IN
CASES OF POSSIBLE GENETIC
MUTATION
PATIENTS/PARENTS
PERSONNEL
p0.41
17
EXPERIENCES OF THE PERSONNEL OF INFORMATION
PROVISION
18
p
  • plt.0001

19
p0.074
SELF-DETERMINATION
IN THE POST-ANALYTIC PHASE
TAKING THE PATIENT'S OPINION INTO
CONSIDERATION WHEN PLANNING TESTS
FOR RELATIVES
5
4
3
2
TAKING THE PATIENT'S OPINION INTO
CONSIDERATION WHEN PLANNING
1
TREATMENT OR REHABILITATION FOR
TREATMENT IS UNDERSTOOD
PATIENT
STAFF NOT TRYING TO INFLUENCE TO
PATIENTS/PARENTS DECISIONS
PATIENTS/PARENTS
PERSONNEL
20
p0.011
21
  • plt0.0001

22
(No Transcript)
23
(No Transcript)
24
PATIENTS/PARENTS BACKGROUND FACTORS
ASSOCIATED
  • MORE CRITICAL PATIENTS AND PARENTS WERE
  • OLDER age compared to younger respondents
  • LOWER LEVEL OF EDUCATION
  • NO SPECIFIC PHILOSOPHY OF LIFE compared to
    religious or other
  • philosophy of life
  • NO GENETIC INFORMATION PROVIDED BY GENETICS STAFF
    compared to information provided by genetics
    staff
  • NO INFORM CONSENT BEING ASKED compared to written
    or verbal consent
  • NORMAL TEST RESULT compared to positive, abnormal
    test result
  • INFORMING BY TELEPHONE about test result compared
    to during appointment
  • INFERTILITY TESTS compared to cancer tests

25
PERSONNELSBACKGROUND FACTORS ASSOCIATED WITH
PRINCIPLES
  • MORE CRITICAL PERSONNEL WERE
  • OLDER compared to younger respondents
  • MEDICAL LABORATORY TECHNOLOGISTS than nurses
  • LABORATORY STAFF than gynaecology/obstetrics,
    neurology department staff
  • LABORATORY AND WARD STAFF than outpatient clinic
    staff
  • PERSONNEL WITHOUT ETHICS OR GENETICS TRAINING

26
CONCLUSIONS SUGGESTIONS FOR CLINICAL PRACTICE
  •  
  • Expertise in genetics should be promoted in care
    units
  •   More education related to genetic diseases at
    different levels of the education system
  • Adequate time to consider participation in
    testing
  • Informed consent for testing and disclosure of
    its result should be obtained
  • Harmful consequences should be take into account
    such as fears concerning stigmatization,
    discrimination in insurance and in the workplace
  • Equal information, by taking into account
    knowledge level and world view
  • Both a positive and a negative result should be
    disclosed during a personal appointment
  • Up-to-date information about ensuring data
    protection

27
SUGGESTIONS FOR HEALTH CARE ADMINISTRATION
  •  
  •  More precise definition of the roles and tasks
    of different groups of professional in genetic
    information provision is important
  • On-the-job training for the staff should be
    organized in the field of genetics and ethics
  • Proceedings should be developed to ensure data
    protection concerning paper documents containing
    patients genetic information
  • In care units, patients should be given guidance
    in independent information seeking
  • e.g. patient counselling units
  • Internet-based information banks

28
CONCLUSIONS SUGGESTIONS FOR STAFF EDUCATION
  • On-the-job training in genetics and ethics should
    be arranged for all professions
  • Focus of education ethical issues applied to
    practical situations
  • when making a genetic diagnosis,
  • on its harmful consequences for different life
    areas
  • and on taking into consideration the values of
    the patient
  • or the childs parents
  •  

29
CONCLUSIONSSUGGESTIONS FOR FUTURE RESEARCH AND
NURSING SCIENCE
  • Instrument should be improved
  • it would be beneficial to divide the consequences
    into beneficence and non-maleficence.
  • Adding more statements to the consequences for
    the patients family life could help make the
    information obtained from this section more
    varied.
  • The instrument could also be used divided into
    smaller parts
  • A follow-up study of patients perceptions during
    longer time period is necessary
  • Data collection methods different from
    questionnaire forms should be used. For example,
    observation study and case study

30
CONCLUSIONSCONTENTS IN FUTURE RESEARCH
  • The reasons for differences in respondents
    perceptions should be determine.
  • Different levels of ethical issues and
    decision-making should be studied by using a
    multimethod approach
  •  International research collaboration in
    diagnostic genetic testing is needed.
  • The principle of privacy could be looked at from
    a wider perspective than that of informational
    privacy, such as from a physical and psychosocial
    perspective

31
CONCLUSIONSFUTURE IN NURSING SCIENCE
  • Empirical research in ethics is still rare and a
    new, innovative research approach is needed
    including
  • intervention studies
  • case reports
  • observation studies
  • Systematic concept analysis is needed
  • More precise theoretical approach would allow
    their more precise utilization in clinical
    practice and ethics research for creating and
    testing an ethics model in the treatment
  • More attention should be focused on the status of
    the patient as an object of study, both in
    diagnostic examination and scientific research
  • The human genome have created a need for
    philosophical and value-based analysis. (health
    and disease risk to become ill,
    probability, likelihood)

32
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