Time
2000-2006
Administrating institution
Dept. of Philosophy, Gothenburg
University
Funding
The Swedish Ethics in
Health Care Program, the Jubillee Foundation at the Sahlgrenska
University
Hospital, Participating departments
Keywords
autonomy, bioethics, cancer, caring science, education, ethics, genetic
counselling, genetic testing, Huntington's disease, medical ethics,
psychology
SUMMARY
Ethical, educational, organisation and caring aspects of presymptomatic
genetic testing are studied at clinics where such testing is offered,
as
well as an education for genetic counsellors. The main question is how
clinical
practice and education in this area have been and should be organised
with
respect to caretaking, handling of information and introduction of new
tests.
The project investigates how patients, relatives and personell perceive
the
process, in particular the ability of patients to understand
information
and implement it in decision making. The attitudes of relatives to
patients
are studied as to whether or not they want information relevant for
their
own genetic status resulting from the testing of other persons.
Assuming
that well-being and autonomy are the chief ethical values at stake in
this
practice, two basic ethical issues are investigated: First, what
determines
the extent to which presymptomatic genetic information can serve these
values?
Secondly, how should conflicts of interest between patients and other
parties
(e.g., relatives) regarding access to genetic information be viewed in
the
face of these values?
BACKGROUND
Genetic counselling (GC) once evolved as the use of health-related
information
about families uncommonly burdened by some disease in order to estimate
and
communicate the statistical risk of contracting this disease. In later
years,
the applicability of GC has become more wide and precise due to the
possibility
of DNA-level genetic testing and the knowledge from the Human Genome
Project,
but family-examinations is still the basic tool of any genetic
counsellor.
Originally entangled with eugenic concerns for the "quality" of the
population
(Adams 1990, Broberg & Roll-Hansen 1995, Youngson & Schott
1996),
the ideal of contemporary GC is instead often formulated as
non-directiveness:
The task is to provide neutral information in order to protect and
promote
the personal autonomy of individuals - i.e., to help them direct their
own
lives according to their own liking. However, this ideal has proved
difficult
to implement due to a number of factors, such as the anxiety and
guilt-feelings
linked to hereditary disease in the minds of many people, the
peculiarity
of genetic information to be about whole families, the difficulties
involved
in explaining complex genetic risks, and the simple fact that different
people
value genetic information and the actions which may be undertaken on
the basis
of it quite differently. Partly due to this, the goal of
non-directiveness
has become increasingly controversial. (Caplan 1993, Clarke 1994,
Harper &
Clarke 1997, Murray & Botkin 1995, Wertz & Fletcher 1989, and
Wertz,
Fletcher, Berg & Boulyjenkov 1995). Moreover, since the autonomous
choices
of individuals are not necessarily beneficial for their health and
well-being,
the ideal of GC and the traditional goals of health care may conflict
sharply.
For long, GC has been a rather small activity, concerning only
rare
conditions in especially burdened "risk-families". However, due to the
conclusion
of the human genome project, as well as the fast development of testing
technologies
and associated therapies, genetic testing and GC will soon be
actualised for
a much larger population, as well as a much wider spectrum of
conditions.
Genetic testing can be used for different purposes, such as
prenatal diagnosis (surrounded by its own peculiar ethical
complications (Handyside 1996, Munthe 1996, Munthe 1999, Verlinsky
& Kuliev 1998)), or clinical diagnosis of people suffering from
some symptoms. A third purpose is the
investigation of the possibility that a person with no symptoms will in
the
future contract some disease - so-called presymptomatic genetic testing
(PGT).
PGT is actualised in connection to so-called late onset diseases (LOD),
i.e.
symptoms start to appear a period into the life of the person in
question.
Testing for LOD is often actualised by diagnosis or PGT of a kin.
However,
in the future, PGT may also be demanded as a spin-off effect of genetic
testing
necessary for new pharmaceutical therapies, increased public awareness
of
genetics and pressure from societal and commercial parties (Draper
1991,
Duster 1990, Weir, Lawrence & Fales 1994, Hubbard & Wald 1993,
Munthe
1998). The heredity of LOD vary significantly, from monogenic heredity,
where
the disease is a direct result of a single mutation, to various forms
of
complex heredity, where there is an interplay of several genes and
environmental
factors. PGT for complex diseases can only inform about the risk of a
certain
individual to become sick ? a risk which may vary a lot depending on
the
number of genes involved, different populations, families, life-styles,
environment,
work etc. Recently identified genes for various forms of cancer are all
examples
of complex diseases and several very common diseases (e.g., diabetes
and
cardiac
problems) has a very complex heredity.
All this means that many more health care professionals than
before,
as well as whole new categories of staff, will have to deal with the
known
practical and ethical problems of PGT and GC. At the same time, the
growing
knowledge about the complex diseases is making these problems even more
difficult
to handle. (Dahlqvist & Wahlström 1997). For a long time, this
will
be further complicated by the dynamic nature of genetic knowledge,
where new
investigations will lead to repeated adjustments of assessed genetic
risks.
At the same time, the number of patients in PGT will most probably
increase
significantly. This will in turn further complicate the practice of GC,
since
different individuals react very different to the idea of PGT, the
information
about genetic risks and the varying possibilities of treatment. This
also
complicates the assessment as to whether or not a certain test is "good
enough"
in order to be offered and whether or not the obtaining of informed
consent
is practically possible. (Faden & Beauchamp 1986, Jonsson 1994,
Munthe
1999). Moreover, the development that PGT and GC is brought into new
areas
of health care where the standard is the traditional goals of medicine
actualises
the possibility of conflict between these goals and the ideal of GC.
All these scenarios actualise basic questions of how the
caretaking of patients in PGT and related GC should be handled, to what
extent the
GC of today live up to these requirements and on what conditions it may
do
so in the future. One aspect of this is on what grounds one should
decide
whether or not a new possibility of PGT should be offered at all. What
should
be seen as the benefits of PGT? How should these be balanced against
risks?
Can health care really withhold tests which are in demand for the
reason that
they are seen as "not good enough" in light of the ideal to promote
(not
only respect) autonomy? Other problems instead concern the practice
before
and after testing. In Sweden, GC has traditionally been handled by
specialists
in clinical genetics, but as we have just seen, this situation is
already
changing and will change even more. One action for dealing with this to
increase
the general knowledge among health care staff (Wertz, Fletcher, Berg
et.al.
1995), but this may not be practically possible. One way of meeting
this
challenge is to develop a system with so-called genetic counsellors,
i.e.
people (often specialised nurses or almoners) who are not specialists
in
genetics but who have a special competence to handle the problems
actualised
in GC and to care for the special needs arising in this context. Such
people
will, of course, need deepened insights into the ethical problems
actualised
by PGT. This modell has been used in the USA and the United Kingdom,
but in
Sweden it has just been initiated through a newly started education for
genetic
counsellors in Gothenburg which is led by one of the participants in
this
project (U H-U). Still, even in an international perspective, it is
highly
unclear how the professionalisation of such a new speciality connects
to
the complexity of the ethics and practical conditions of future GC
(Kenen
1997).
A third and very peculiar complex of problems concern how the
information
obtained by PGT should be handled in relation to various third parties,
in
particular relatives. The tradition in Sweden has been to inform the
patient
and then let her decide whether or not to inform relatives
(Arbetsgruppen
för cancergenetiska mottagningar i Sverige 1998 & 1999). In
other
parts of the world, however, very different approaches are in use
(Wertz &
Fletcher 1989), something which is of interest in the Swedish context,
since
an increase of the number patients in PGT will most certainly also
involve
an increase of patients from different cultural backgrounds. The
Swedish
model may seem to respect the integrity of the patient, but at the same
time
it means that the patient obtains information about the relatives which
they
may not want the patient to have. Another reason for this model is the
uncertainty
as to whether or not relatives really want to be informed, but this
problem
seems to remain with the present practice since the patient need not
know
more about this. Moreover, the patient is probably less competent to
provide
GC to relatives than health care staff. The praxis also seems to be
modelled
on a rather simplified picture of how family-links interplay with
psychological
relations between people, which means that different relatives may be
treated
rather differently by the patient - something which may seem
problematic
from the point of view of justice (Ruyter & Storvik 1996). However,
in
the light of other parties which may be interested in the information
from
PGT (employers, insurance etc.), for health care to be prepared to
disseminate information about patients against their wishes may seem
rather horrifying.
Besides various descriptive facts, in order to analyse these
problems,
a theory of the ethics of autonomy which can handle interpersonal
conflicts
of autonomy arising out of the ideal of GC not only to respect (as in
traditional
medical ethics) but also to actively promote people´s autonomy is
needed.
However, standard autonomy-centred ethical theories (Kantian, Lockean,
Millean
and most contract- theories) in medical as well as general normative
ethics
as a rule prescribe only a duty to respect autonomy and thus do not
allow
for such conflicts to arise. For this reason, they are also incapable
of
providing
guidance regarding how gains in autonomy should be balanced against
losses
of other values. It is therefore highly unclear on what grounds such
conflicts
as well as interpersonal conflicts of autonomy between patients and
should
be resolved.
REFERENCES
Adams M D (ed.) 1990, The Wellborn Science. Eugenics in Germany,
France,
Brazil and Russia. New York & Oxford 1990: Oxford University Press.
Arbetsgruppen för cancergenetiska mottagningar i Sverige 1999,
Utredning,
uppföljning och omhändertagande av personer med
misstänkt
ärftligt ökad risk för tumörsjukdom: Allmän
översikt.
? 1998, Utredning, uppföljning och omhändertagande av
personer
med misstänkt ärftligt ökad risk för
tumörsjukdom: Etiska överväganden.
Bartels D M, LeRoy B S, Caplan A L (eds.) 1993, Prescribing Our Future.
Ethical Challenges in Genetic Councelling. New York 1993: Aldine De
Gruyter.
Clarke, A 1994 (ed.), Genetic Councelling. Practice and Principles,
London
& New York 1994: Routledge.
Dahlqvist G, Wahlström J 1997, "Etiska problem när genteknik
blir
klinisk rutin". Läkartidningen 1997, 94:3044-3046, 3048-3050.
Draper E 1991, Risky Business. Genetic Testing and Exclusionary
Practices in the Hazardous Workplace. Cambridge 1991: Cambridge
University Press.
Duster T 1990, Backdoor to Eugenics. London & New York: Rotledge.
Faden R R, Beauchamp T L 1986, A History and Theory of Informed
Consent.
Oxford 1986: Oxford University Press.
Harper P S, Clarke A J 1997, Genetics, Society and Clinical Practice.
Oxford
1997: BIOS Scientific Publishers.
Hubbard R, Wald E 1993, Exploding the Gene Myth: How Genetic
Information
is Produced and Manipulated by Scientists, Physicians, Employers,
Insurance
Companies, Educators, and Law Enforcers. Boston 1993: Beacon Press.
Kenen, R H 1997, "Opportunities and impediments for a consolidating and
expanding profession: genetic counselling in the United States", Social
Science
and Medicine 45: 1377-1386.
Munthe 1996, The Moral Roots of Prenatal Diagnosis. Ethical Aspects of
the
Early Introduction and Presentation of Prenatal Diagnosis in Sweden.
Studies
in Research Ethics no. 7. Göteborg 1996: Centre for Research
Ethics.
- 1998, "Kunskap för vem? Gentestningens etik och politik", i
Nilsson
A (ed.) 1998, Gentest ? för vem?. Källa no. 50, Stockholm
1998:
Forskningsrådsnämnden.
- 1999, Pure Selection. The Ethics of Preimplantation Genetic Diagnosis
and Choosing Children without Abortion, Göteborg 1999: Acta
Universitatis Gothoburgensis.
Ruyter K, Storvik H (eds.) 1996, Oppsøkende genetisk veiledning.
Oslo 1996: De nasjonale forskningsetiske komitéer.
Weir R F, Lawrence S C & Fales E (eds.) 1994, Genes and Human
Self-knowledge. Iowa City 1994: Iowa University Press.
Wertz D C, Fletcher J C (eds.) 1989, Ethics and Human Genetics. A
Cross-Cultural Perspective. Berlin 1989: Springer-Verlag.
Wertz D C, Fletcher J C, Berg K, Boulyjenkov V 1995, Guidelines on
Ethical
Issues in Medical Genetics and the Provision of Genetic Services.
Genéve
1995: World Health Organisation.
Youngson R & Schott I 1996, Medical Blunders. London 1996: Robinson
Publ. Ltd.
QUESTIONS, METHODS & ETHICS
The project will run for 4 years, and its main questions will be: 1.
How
should caretaking of patients in connection to PGT be handled and
organised? 2. What determines whether or not a new application of PGT
should be offered? 3. How should information obtained by PGT be handled
in relation to third parties (in particular, relatives)? The project
will employ an
interdisciplinary strategy, where descriptions of the actual state and
development of the
clinical reality of PGT is combined with theoretical analytical
perspectives
from psychology, caring science and ethics. An important part of the
project´s methodology is to use the combined results from all of
the studies for
designing
and trying out new organisational and educational practices regarding
PGT
and GC, and to evaluate these. The methodological perspectives will be
combined
in the final analysis, and the last year will be devoted to producing a
final
analysis which can be used for the construction of practically usable
guidelines
for ethical and quality assessments in the practical clinical reality
of PGT.
As far as we know, this research-approach is unique regarding its
methodological
set-up and combination of competences both nationally and
internationally.
Descriptive studies
Study 1: Interview-survey of the actual organisation and ideology of
PGT
for cancer and Huntington´s disease in Sweden. We expect
interesting differences to be found on both these points, both between
different centres and between different categories of staff. All staff
principally involved at all centres in Sweden involved in PGT is
invited (former staff of
importance will also be invited) to participate. The population is
identified through written and verbal contacts with the centres. The
questions asked concern how the practice came about, how it has evolved
regarding organisation and
involved competence, and on what grounds such actions have been
undertaken. Tentative results will be sent to the respondents for
comment in order to
secure accuracy and avoid misinterpretation. Regarding PGT for cancer,
this
part of the project has already been initiated with local funding, and
is
carried out by AB supervised by CM (who will carry out the interviews
in
Göteborg),
and assisted by KM. Besides being of interest as such, the final
results
will be used as a background for the local studies at the Departments
of
Clinical Genetics and Oncology in Göteborg described below.
Studies 2-5: Perception among staff and patients of
information-processing, well-being, caretaking, changes of interests
and ethical complications in
PGT. We expect significant differences regarding these aspects in
relation to different categories of people - in particular staff and
patients.Methods used will be questionaires (patients) and interviews
(staff and selected
patients). All involved staff at the two centres will be invited for
answering
questions of how they perceive of the activity of GC and PGT in
different
stages, what they see as the point of the practice, how patients seem
to
be affected in terms of well-being, and how well information is
understood
and processed by patients. The reported perceptions will be related to
differences
of sex, age, professional function and degree of foreknowledge
regarding
genetic matters. All patients in different stages of genetic
investigation
at the two centres during a period of one year will then be similarily
invited
to answer similar questions - in particular how well they think they
have
managed to understand and process given information. Some of these
patients
will then be selected for invitation to participate in "deeper"
interviews
in order to strengthen the basis for interpreting the results from the
questionaire-study.
In order not to direct the thoughts of the respondents too much, the
questions
will be rather open-ended and general in nature, leaving a rather large
room
for associations and intiatives of the respondents and (in the case of
interviews)
follow-up questions. The reported perceptions will be related to if a
patient
is a relative of another patient, differences of sex, age,
cultural/ethnic
background, motives for requesting testing, degree of foreknowledge
regarding
genetic matters, ethical values, psycho-social situation etc. The
results
of these studies will be used for working out a general picture of how
different parties in different stages have perceived (1) the
possibility of achieving a clear picture of what goal the patient tries
to achieve through the PGT and to what extent the information given to
the patient have been relevant in the light of this goal, (2) the
ability of the patient to comprehend
the given information in a way which may be used by the patient for
making
rational decisions in light of the goals they are trying to achieve.
These
studies will be planned jointly by the team and carried out by CM, AB,
KM,
EF, U H-U (whoever is the least biased for a particular study). This
part
of the project has already started, through a currently conducted
(locally
funded) study (including a completed pilot study) of psycho-social
needs
and perception of given information among all patients who have
completed
the process of oncogenetic investigation in Göteborg (carried out
by
EF and KM).
Study 6: Continuous revision, follow-up and reevaluation of the
organisation
of PGT. The above mentioned aspects are here related to the possible
offering
of new tests, changes in caretaking, organisation or the handling of
information
undertaken on the basis of the results of the above-described studies,
as
well as ethical aspects. This part of the project will be undertaken
jointly
by the project team, with the principally involved persons at the
respective
centres (JW and AB) as primarily responsible.
Study 7: Educational implementation of the practical knowledge of
genetic counselling and the process of professionalisation of genetic
counsellors
in Sweden and United Kingdom. This part of the project will relate the
above-mentioned
education for genetic counsellors to the practice of GC examined in the
above-mentioned
studies, and compare it to a similar education in Preston, UK.
The study
will be carried out by KB and U H-U, assisted by CM, through a
combination
of participatory observation, interviews with students and teachers,
and
analysis
against the background of other parts of the project.
There is a methodological problem involved in the investigation
of
the views and perceptions of relatives, since those relatives who can
be
contacted
through the centres already have been informed about the genetic risk
and
have decided to make contact with health care on the basis of this. In
order
to achieve a more comprehensive picture of how people view the prospect
of
being contacted by relatives or health care about discovered genetic
risks,
we are therefore planning a questionnaire-study aimed at a statistical
sample
of the Swedish population. The initial planning, collection of data and
initial
statistical analysis of this part of the project will be undertaken in
collaboration
with specially recruited expert consultants from SIFO or SCB.
Collected data will otherwise not primarily be analysed from a
statistical
point of view (although some rudimentary statistical systematisation
will,
of course, be needed). The main thrust will be qualitative analyses and
interpretations
on the basis of conceptual frameworks from bioethics, moral philosophy,
caring
science and psychology. In particular, we want to assess to what extent
various
parties describe the goals of the practice of GC and PGT in different
ways,
what difficulties of achieving these goals they point to, and what can
be
said from this regarding the resolution of various conflicts of
interest in
connection to the main questions of the project mentioned above.
Normative studies
The descriptive part of the project will provide a factual basis for
the
analysis of underlying ethical and evaluative issues arising out of the
tension
between the traditional medical ethical ideal of merely respecting
patient
autonomy in the pursuit of promotong health and well-being, and the
more
ambitious
ideal of GC to actively promote autonomy as well. These issues
are
theoretical and require systematic analysis of concepts of autonomy,
informed
consent, well-being and rationality, as well as normative analysis of
ethical
principles in which these concepts appear. Methodologically, this part
of
the project will primarily be based on studies of the literature in the
field,
with the help of argumentative and conceptual analysis. However, the
final
analyses will also involve the use of data and analyses from the
descriptive
studies. This endeavour connects the project to lively debated basic
issues
in the international debate on bioethics, moral philosophy and decision
theory,
which need to be thoroughly analysed. Our intention is therefore to
involve
in the project team a research student in practical philosophy (NJ),
who
will have this part of the project as his main task under the
supervision
of CM. The work will be focus on two primary questions in relation to
the
clinical reality of PGT and GC.
The first of these questions concerns the value of PGT and GC for
individual people. To what extent can genetic information benefit an
individual
in terms of autonomy and well-being and how should conflicts between
these
values be handled? What is the significance of the medical,
psychological
and social situation of the person in question, as well as his or her
initial
understanding of genetic and medical facts? Must the information which
may
be obtained through a certain test be of a certain quality (precise,
corroborated,
informative etc.) in order for the test to be of any benefit? Are all
aspects
of human well-being and autonomy relevant from a medical point of view,
or
should health care limit itself to meeting only certain kinds of needs?
In
particular, can the aim of GC to actively promote the personal autonomy
of
patients give room for traditional requirements on health care not to
offer
procedures which are bad for people (in terms of health and
well-being)?
The second question is about interpersonal conflicts of interest
due
to the fact that genetic information always is about several people.
How should
the well-being, integrity and autonomy of registered patients (i.e.,
those
who have a case record) be seen in relation to the same interests of
relatives
who have not yet been made aware of the genetic risk? In connection to
this
general issue, it is of particular interest to conduct a closer
analysis of
ethical conflicts where one person´s autonomy cannot be fully
respected
without the restriction of another person´s autonomy. This is
highly
relevant, for example, in the case where it is clear that a patient is
unwilling
to inform relatives about a revealed genetic risk, although the patient
knows
that the relatives would be very interested in this information. In
connection
to these kinds of cases, we will also investigate what difference it
would
make to analyse such conflicts from the perspective of social justice
and
more traditional welfare-based values in medical ethics.
In order to realise the basic aims of the project, the result of
the
normative studies will be combined with the results from the
descriptive
studies in the final analysis. However, the descriptive studies will
also
be constructed in such a way that they may uncover information relevant
for
the normative issues. Theories and concepts from ethics and
argumentative
as well as conceptual analysis will therefore be used in the
construction
of questions and analytical schemes in the descriptive part of the
project.
Research ethical aspects
Contacts with patients may cause anxiety and guilt-feelings and must
therefore
be handled very carefully. The ongoing study (including a completed
small
pilot study) of psycho-social needs of former oncogenetic patients
indicate
that this is possible if the project has access to psychological
expertise
who can be contacted by the respondents in case of need. The
project-team
has two members who can assume such a role, one for each of the
involved
centres.
In any case, it is important to minimise the burden which the project
may
lay on patients. For this reason, the most sensitive contacts will not
be
taken until we have assessed the data collected from already ongoing or
less
sensitive studies. We therefore estimate that investigations involving
patients
undergoing GC will not be undertaken until the third year of the
project.
In other words, application to and approval of an ethics committee will
not
be actualised until this specific part of the project is planned in
detail.
Contacts with health care staff are handled according to the ethical
guidelines
of the Swedish Council for Research in the Humanities and Social
Sciences
(i.e., they are viewed as respondents/participants rather than human
subjects).
No interview- or questionnaire-studies are made without the obtaining
of
informed consent. All data from these investigations are treated as
confidential
information and stored in a safe place. All data are anonymised before
any
publication of results. Should the need to publish quotes (or
descriptions
which make the identification of individuals possible) from interviews
arise,
this is not undertaken without the prior explicit informed consent for
this
specific purpose from the person in question.
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