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

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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

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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

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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
•  

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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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