Bibliography
Below is a short selection of scholarly work related to the
CGREAL research topics. More citations may be found at the CGREAL
CiteULike site.
Appelbaum, P. S. (2004). "Ethical issues in psychiatric
genetics." J Psychiatr Pract 10(6): 351.
As knowledge grows regarding the genetic bases of psychiatric
disorders, a variety of ethical issues will need to be confronted.
Current evidence suggests that the etiology of most psychiatric
disorders rests on a combination of multiple genes and environmental
factors. As tests for the genes involved become more easily
available, pressures will arise to use them for prenatal testing,
screening of children and adults, selection of potential adoptees,
and pre-marital screening. Common problems that will need to
be addressed include popular misunderstanding of the consequences
of possessing an affected allele, impact of knowledge of one's
genetic make-up on one's sense of self, and the discriminatory
use of genetic information to deny persons access to insurance
and employment. Although most states have some legislation aimed
at preventing discrimination, the laws' coverage is spotty and
federal rules are lacking. Physicians may find that newly available
genetic information creates new duties for them, including warning
third parties who may share the patient's genetic endowment.
And genetics research itself has raised questions about when
to disclose information to subjects and their family members
about the genes that are being studied, and how to define the
subjects of the research when information is collected about
family members other than the proband. Knowledge of these dilemmas
is a first step to resolving them, something that the medical
profession will need to attend to in the near-term. Neglect
will lead others to set the rules that will control medical
practice, including the practice of psychiatry, in the new world
of genetic medicine.
Avard, D. M. and B. M. Knoppers (2002). "Ethical dimensions
of genetics in pediatric neurology: a look into the future."
Semin Pediatr Neurol 9(1): 61.
Health care providers and families with children who participate
in genetic research or who need specialized genetic services,
including genetic testing, will encounter not only medical but
difficult social, ethical, and legal questions surrounding pediatric
genetic neurology. Children are often at the center of much
of the genetic revolution and their unique needs raise special
concerns about the risks and benefits associated with genetic
research, particularly the issues of consent, the use of genetic
databases, and gene therapy. Moreover, genetic research and
testing raise important psychosocial risks. In this article
we discuss some of the benefits and consequences of genetic
technologies for children in relation to national and international
guidelines. In particular, physicians, policy-makers, and families
should be knowledgeable about the guidelines and have a good
understanding of the psychosocial and ethical issues associated
with genetics in pediatric neurology.
Brito, A. (2001). "Community participation and representation
in genetic studies: testing the application of fundamental ethical
principles." St Thomas Law Rev 13(4): 943.
Broadstock, M., S. Michie, et al. (2000). "Psychological
consequences of predictive genetic testing: a systematic review."
Eur J Hum Genet 8(10): 738.
The aim of this systematic literature review is to describe
the psychological consequences of predictive genetic testing.
Five databases were searched for studies using standardised
outcome measures and statistical comparison of groups. Studies
were selected and coded by two independent researchers. From
899 abstracts, 15 papers, describing 11 data sets, met the selection
criteria for the review. The studies were of predictive genetic
testing for Huntington's disease, hereditary breast and ovarian
cancer, familial adenomatous polyposis and spinocerebellar ataxia.
One involved children; the rest were of adults. None of the
15 papers reported increased distress (general and situational
distress, anxiety and depression) in carriers or non-carriers
at any point during the 12 months after testing. Both carriers
and non-carriers showed decreased distress after testing; this
was greater and more rapid amongst non-carriers. Test result
(ie being a carrier or non-carrier) was rarely predictive of
distress more than one month after testing (predictive in two
of 14 analyses). Pre-test emotional state was predictive of
subsequent distress in 14 of 27 analyses. There is a lack of
informative studies in this field. The studies reviewed suggest
that those undergoing predictive genetic testing do not experience
adverse psychological consequences. However, the studies are
of self-selected populations who have agreed to participate
in psychological studies and have been followed up for no more
than three years. Most research has been of testing for Huntington's
Disease and included follow-up of no more than one year. The
results suggest that testing protocols should include a pre-test
assessment of emotional state so that post-test counselling
can be targeted at those more distressed before testing. None
of the studies experimentally manipulated the amount or type
of counselling provided. The relationship between counselling
and emotional outcome is therefore unclear and awaits empirical
study.
Cassell, E. J. (2005). "Consent or obedience? Power and
authority in medicine." N Engl J Med 352(4): 330.
Caulfield, T. and D. Wertz (2001). "Creating needs? A review
of survey data and concerns relevant to the commercialization
of genetic testing." Community Genet 4(2): 76.
An increasing number of genetic tests are moving from the laboratory
to the clinical setting. It seems an appropriate time to assess
the interest and receptivity of the public toward genetic testing
services. This is particularly so given the concerns that have
been expressed about the commercialization of genetic testing
technologies. To this end, the paper begins with an overview
of the concerns and benefits associated with commercialization.
This is followed by a review of a selection of survey data relevant
to the potential 'genetic testing market' (i.e., the attitudes,
perceptions and knowledge of the public, patients and professionals).
We conclude that although emerging data and past experience
suggest that the actual uptake of genetic tests may fall short
of expectations, the strong public interest and perceived right
of access disclosed in the survey research indicate a future
potential for a large testing market. As such, the concerns
associated warrant careful consideration.
Caulfield, T. A., B. M. Knoppers, et al. (2003). "Genetic
technologies, health care policy and the patent bargain."
Clin Genet 63(1): 18.
The idea of granting patents on human genetic material continues
to cause controversy. The debate is largely focussed on the
moral acceptability of human gene patents, the impact of gene
patents on the research environment and the value of patents
to stimulate innovation and the commercialization and dissemination
of genetic discoveries. As highlighted by a recent controversy
in Canada, patents can also have a profound effect on health
policy and access to genetic services. Creative and bold patent
reform initiatives are necessary to ensure that society will,
to the highest degree possible, reap the health care benefits
of the genetic revolution.
Codori, A. M. and J. Brandt (1994). "Psychological costs
and benefits of predictive testing for Huntington's disease."
Am J Med Genet 54(3): 184.
The impact of predictive genetic testing for Huntington's disease
(HD) was assessed in 68 persons at high (n = 17) or low risk
(n = 51) for the disease at one to six years following disclosure
of test results. There was consensus in both groups that knowledge
of HD genetic status was beneficial. A majority of persons felt
relief from wondering and uncertainty. High-risk persons identified
greater family closeness and financial security. For low-risk
persons, the knowledge that their children were spared offered
great consolation. Negative effects in high-risk persons were
psychological burden (worry, guilt). Even for low-risk subjects,
there was a period of adjustment and, in some, disappointment
that low risk had not alleviated problems unrelated to HD. Although
the majority of marriages were unaffected by testing, some persons
in both groups reported that their marriages sustained positive
or negative impact. Despite mixed consequences, most did not
regret being tested. The benefits of testing appear to outweigh
its drawbacks, at least among this self-selected group of research
participants. We also must conclude, however, that predictive
genetic testing will result in negative as well as positive
consequences, regardless of test outcome.
Codori, A. M., K. L. Zawacki, et al. (2003). "Genetic
testing for hereditary colorectal cancer in children: long-term
psychological effects." Am J Med Genet A 116(2): 128.
Children who carry a gene mutation for familial adenomatous
polyposis are virtually certain to develop colorectal cancer
without annual endoscopic screening and a colectomy when polyps
appear. Predictive genetic testing can identify children who
need regular surveillance. While the medical benefits of genetic
testing are clear, the psychological effects have not been well
studied. We evaluated the long-term psychological effects of
genetic testing in 48 children and their parents. In each family,
one parent was a known APC gene mutation carrier. Before genetic
testing, and three times afterward, participants completed measures
of psychological functioning, which, for children, included
depression and anxiety symptoms, and behavior problems and competencies.
Parents completed a measure of depression symptoms. Data were
collected at 3-, 12-, and 23-55 months after disclosure. Twenty-two
children tested positive; 26 children tested negative. Mean
length of follow-up was 38 months. There were no clinically
significant changes in mean psychological test scores in children
or parents, regardless of the children's test results or the
sex of the affected parent. However, the group of children who
tested positive and had a mutation-positive sibling showed significant,
but subclinical, increases in depression symptoms. Furthermore,
several individual mutation-negative children with a positive
sibling had clinical elevations in anxiety symptoms at one or
more follow-up. Behavior problems declined for all groups, and
behavior competence scores remained unchanged. We conclude that
most children do not suffer clinically significant psychological
distress after testing. However, because some children showed
clinically significant anxiety symptoms, long-term psychological
support should be available to those families with both mutation-positive
and mutation-negative children, and with multiple mutation-positive
children. Our findings should call for a multidisciplinary approach
to genetic testing for children.
Condit, C. M., R. L. Parrott, et al. (2004). "The role
of "genetics" in popular understandings of race in
the United States." Public Underst Sci 13(3): 272.
The increase in public representation of the science-based concept
"genetics" in the mass media might be expected to
have a major impact on public understanding of the concept of
"race." A model of lay understandings of the role
of genetics in the contemporary United States is offered based
on focus group research, random digit dial surveys, and community
based surveys. That model indicates that lay people identify
are primarily by physical features, but these identifications
are categorized into a variety of groupings that may be regional,
national, or linguistic. Although they believe that physical
appearance is caused largely by genetics, and therefore that
race has a genetic basis, they do not uniformly conclude, however,
that all perceived racial characteristics are genetically based.
Instead, they vary in the extent to which they attribute differences
to cultural, personal, and genetic factors.
Di Pietro, M. L., A. Giuli, et al. (2004). "Ethical implications
of predictive DNA testing for hereditary breast cancer."
Ann Oncol 15 Suppl 1.
Predictive medicine offers the possibility of detecting many
common diseases that have a genetic basis, such as cancer; however,
a genetic alteration might only indicate susceptibility to,
not certainty of, disease. Whereas means for identifying a greater
susceptibility to disease have been developed, effective interventions
have progressed much more slowly. Awareness of one's susceptibility
to disease without an actual possibility of intervention can
lead to an unacceptable use of such information, or have a dramatic
psychological impact on the person involved. Are the risks connected
with the knowledge of susceptibility to genetic disease proportional
to the benefits that such knowledge may provide? Does the knowledge
of one's genetic condition constitute a service to the individual
and society, or is this predominantly harmful for the person
involved? The problem is vast, and involves medical, psychological,
social, political and ethical dilemmas. These dilemmas, common
to all predictive medicine, are most evident in predictive DNA
testing for hereditary breast cancer. In our analysis, we will
first examine the ethical values involved in genetic testing,
highlighting the special ethical issues raised by predictive
DNA testing for hereditary breast cancer. Next we will deal
with genetic counseling, which, in our opinion, is the 'ethos'
for ethically justifying predictive DNA testing.
Evers-Kiebooms, G. (2001). "A personal view on reviewing
the psychological consequences of predictive genetic testing
for late onset disease." Eur J Hum Genet 9(5): 394.
Ferber, D. S. (2004). "'Miracle in Iowa': metaphor, analogy,
and anachronism in the history of bioethics." Monash Bioeth
Rev 23(3): 15.
The term 'bioethics' is commonly associated with debates prompted
by innovations in medical technology, yet the issues raised
by bioethics are not that new. They concern the extent to which
medicine and social morality exist in harmony or opposition--issues
routinely addressed in the social history of medicine. This
paper will argue that historical thinking, understood broadly,
has a significant role to play in understanding relations between
medicine and social morality, and therefore in contemporary
bioethics. It explores past and present uses of metaphor and
analogy in shaping perceptions of scientific innovation, and
argues for the validity of apparently anachronistic thinking
in our judgments of the past. The aims of this paper are ultimately
pedagogical: to enable students to look at media reports about
developments in medicine and biotechnology in order to problematise
what are presented as the self-evident terms of current debate.
Gason, A., M. Aitken, et al. (2005). "Genetic susceptibility
screening in schools: attitudes of the school community towards
hereditary haemochromatosis." Clin Genet 67(2): 174.
Gason AA, Aitken MA, Metcalfe SA, Allen KJ, Delatycki MB. Genetic
susceptibility screening in schools: attitudes of the school
community towards hereditary haemochromatosis.Carrier screening
to provide reproductive options has been offered to students
in the school setting for a number of years; however, genetic
susceptibility screening for disease predisposition has not
been introduced to the school community. Experience has shown
that the success of a population-based programme relies on the
community's acceptance. Therefore, we sought to establish the
Australian secondary school community's attitudes towards genetic
susceptibility screening in schools, with hereditary haemochromatosis
as the model condition with an available prevention. School
students, aged 15-18 (n = 748), completed a questionnaire immediately
before and following an oral educational presentation. Their
parents (n = 179) and staff (n = 89) received written information
and returned a questionnaire by post. Semi-structured interviews
were with Government representatives. Attitudes towards genetic
screening in schools and knowledge of genetic and clinical features
of haemochromatosis, as well as the likelihood of accepting
a genetic susceptibility test for haemochromatosis, were all
measured. Participants were positive about genetic screening
for disease susceptibility in schools. Their knowledge was high
following education with no significant differences between
participants of each group. Sixty-eight percent of students
would be likely to have the test if it were offered, with parents
and staff, indicating that they would like the students to be
offered a test, on average. Genetic susceptibility screening
in schools is a novel concept. The results of our study indicate
that it could be a public health success with the support of
the community.
Gillam, L. (2004). "Expertise in research ethics: is there
any such thing?" Monash Bioeth Rev 23(3): 64.
In this paper, I consider the question of whether there is such
a thing as 'expertise in research ethics'. I discuss first the
issue of expertise in ethics more generally. There is quite
a lot of resistance to the idea that there are ethics experts,
for reasons which I will raise and respond to. I outline two
different views of what might be counted as expertise in ethics,
and argue that only one of these is defensible. But the defensible
view is also a useful view. Ethics expertise in this sense does
exist. It is a set of generic analytic skills and knowledge
of ideas and logical processes. Expertise in research ethics
is a particular type of ethics expertise, and I give a brief
account of what it includes, and how it differs from ethics
expertise in general. I end with the suggestion that people
with such expertise would be useful members of Human Research
Ethics Committees, and steps ought to be taken to increase the
likelihood that they become members. This may or may not involve
adding the category of 'ethicist' to the list of HREC membership
categories.
Godard, B., J. Marshall, et al. (2004). "Strategies for
consulting with the community: the cases of four large-scale
genetic databases." Sci Eng Ethics 10(3): 477.
Large-scale genetic databases are being developed in several
countries around the world. However, these databases depend
on public participation and acquiescence. In the past, information
campaigns have been waged and little attention has been paid
to dialogue. Nowadays, it is important to include the public
in the development of scientific research and to encourage a
free, open and useful dialogue among those involved. This paper
is a review of community consultation strategies as part of
four proposed large-scale genetic databases in Iceland, Estonia,
United Kingdom and Quebec. The Iceland Health Sector Database
and Estonian Genome Project have followed a "communication
approach" in order to address public concerns, whereas,
UK Biobank and Quebec CARTaGENE have chosen a "partnership
approach" to involve the public in decision-making processes.
Following a comparison of community consultation strategies,
the main concerns of the public are examined as well as the
challenges of involving communities. Importantly, reported across
all groups is the concern for confidentiality, respect of the
individual, transparency, and the donor's right to access to
their own result. However, even if researchers demonstrate a
willingness to respect values such as fair representation, transparency
and accountability, there is still a risk that the public will
mistrust researchers and simply will not participate in sufficient
numbers. Complications may arise when individual and community
interests conflicts. The implementation of a partnership approach
is definitely involving and costly; however, if used properly,
this method can improve both participation and so database development.
Gordon, C., I. Walpole, et al. (2003). "Population screening
for cystic fibrosis: knowledge and emotional consequences 18
months later." Am J Med Genet A 120(2): 208.
We assessed cystic fibrosis (CF) knowledge and emotional consequences
of CF population testing 18 months after screening was offered.
Questionnaires were sent to 593 individuals and 353 responded
(59.5%). All respondents had sound knowledge of CF disease,
although carriers were more likely to correctly state the pattern
of CF inheritance and CF carrier rate in Australia. Eleven of
47 carriers falsely believed they were only very likely to be
carriers, while nearly a third of test-negative individuals
falsely believed they were definitely not carriers. Imprecise
recall of the meaning of results may be due to memory loss over
time, simplification of result meaning and minimization of risk.
The Health Orientation Scale (HOS) was used to assess emotional
consequences of CF carrier testing 18 months after testing.
Both carriers and test-negative individuals thought most carriers
would experience more negative feelings than most non-carriers.
Carriers experienced less positive feelings about their test
result compared to non-carriers. Interestingly, the carriers'
own feelings about their result were more positive compared
to how they thought most carriers would feel. These results
suggest that carriers experience minimal adverse psychological
effects, although a negative social stigma may be attached to
carrying the CF gene mutation.
Hatch, O. G. (2004). "The burgeoning science of genetics
and the impact on public policy." J Biolaw Bus 7(4): 6.
The legislative branch of government often wrestles with the
challenges of public policy issues in the health care area that
raise multi-dimensional questions that cut across disciplines
of science, law, economics, and ethics. Sometimes the purely
scientific issues can be confounding by themselves. This article
highlights some key policy issues that require consideration
in the post-genome era.
Hedera, P. (2001). "Ethical principles and pitfalls of
genetic testing for dementia." J Geriatr Psychiatry Neurol
14(4): 221.
Progress in the genetics of dementing disorders and the availability
of clinical tests for practicing physicians increase the need
for a better understanding of multifaceted issues associated
with genetic testing. The genetics of dementia is complex, and
genetic testing is fraught with many ethical concerns. Genetic
testing can be considered for patients with a family history
suggestive of a single gene disorder as a cause of dementia.
Testing of affected patients should be accompanied by competent
genetic counseling that focuses on probabilistic implications
for at-risk first-degree relatives. Predictive testing of at-risk
asymptomatic patients should be modeled after presymptomatic
testing for Huntington's disease. Testing using susceptibility
genes has only a limited diagnostic value at present because
potential improvement in diagnostic accuracy does not justify
potentially negative consequences for first-degree relatives.
Predictive testing of unaffected subjects using susceptibility
genes is currently not recommended because individual risk cannot
be quantified and there are no therapeutic interventions for
dementia in presymptomatic patients.
Henneman, L., D. R. Timmermans, et al. (2004). "Public
experiences, knowledge and expectations about medical genetics
and the use of genetic information." Community Genet 7(1):
43.
OBJECTIVE: The objectives of this study were (1) to explore
public experiences, genetic knowledge, expectations of future
medical genetic developments, and the attitudes towards the
use of genetic information, and (2) to determine whether there
are subject characteristics associated with these variables.
METHODS: Participants (n = 1,308, age > or = 25 years) of
a Dutch consumer panel were sent a questionnaire, specifically
designed for this study. RESULTS: Response was 63% (817/1,308).
A minority of respondents reported to know someone with a hereditary
disease (34%) or to have used a genetic test (8%). Overall,
57% perceived a lack of genetic knowledge. In multivariate analyses,
high self-rated knowledge, younger age, having heard of genetic
testing, high educational level, female gender, having children
living at home, being a health professional, and familiarity
with genetic testing were positively associated with genetic
knowledge. Future expectations of the consequences of developments
in medical genetics varied between the subjects. The great majority
expected great benefits for medical practice such as an increasing
use of genetic aspects of disease for diagnosis or prevention.
One fifth, mainly older people, anticipated a negative impact
of genetic developments on society. The results also show that
most people are reserved to share their genetic information
with others, especially with regard to the wider public domain
(e.g. industry and insurers) and employers. Remarkably, respondents
were more willing to share their genetic information with scientific
researchers (68%) than with their relatives (54%). CONCLUSION:
This study suggests that although one fifth anticipates negative
consequences of genetic developments, the great majority has
high expectations about the increasing use of genetics in prevention,
diagnosis and treatment of diseases. In developing educational
programmes about genetic innovations in medicine, policymakers
will have to take into account pre-existing lay knowledge, views
and expectations of different groups of citizens towards these
developments.
Hipps, Y. G., J. S. Roberts, et al. (2003). "Differences
between African Americans and Whites in their attitudes toward
genetic testing for Alzheimer's disease." Genet Test 7(1):
44.
The possibility of predictive genetic testing for Alzheimer's
disease (AD) has prompted examination of public attitudes toward
this controversial new health-care option. This is the first
study to examine differences between Whites and African Americans
with regard to: (1) interest in pursuing genetic testing for
AD, (2) reasons for pursuing testing, (3) anticipated consequences
of testing, and (4) beliefs about testing. We surveyed a convenience
sample of 452 adults (61% white; 39% African American; 78% female;
mean age = 47 years; 33% with family history of AD). Both racial
groups indicated general interest in predictive genetic testing
for AD, viewed it as having many potential benefits, and believed
it should be offered with few restrictions. However, in comparison
to whites, African Americans showed less interest in testing
(p < 0.01), endorsed fewer reasons for pursuing it (p <
0.01), and anticipated fewer negative consequences from a positive
test result (p < 0.001). These preliminary findings show
important distinctions between whites and African Americans
in their attitudes toward genetic testing for AD. These differences
may have implications for how different racial and ethnic groups
will respond to genetic testing programs and how such services
should be designed. Future research in real-life testing situations
with more representative samples will be necessary to confirm
these racial and cultural differences in perceptions of genetic
testing.
Johnston, T. (2004). "W(h)ither the deaf community? Population,
genetics, and the future of Australian sign language."
Am Ann Deaf 148(5): 375.
According to enrollments in schools for the deaf and data from
the national census and neonatal hearing screening programs,
the incidence of severe and profound childhood deafness in Australia
is, and has been, less than commonly assumed. Factors implicated
include improved medical care, mainstreaming, cochlear implants,
and genetic science. Data for the United States, Britain, and
other developed countries seem consistent with those for Australia.
Declining prevalence and incidence rates have immediate implications
for sign-based education, teacher-of-the-deaf training programs,
and educational interpreting. There are also serious consequences
for research, documentation, and teaching regarding Australian
Sign Language (Auslan), and for the future viability of Auslan.
Prompt action is essential if a credible corpus of Auslan is
to be collected as the basis for a valid and verifiable description
of one of the few native sign languages in the world with significant
attested historical depth.
Joly, Y., B. M. Knoppers, et al. (2003). "Genetic information
and life insurance: a 'real' risk?" Eur J Hum Genet 11(8):
564.
Public concern about genetic discrimination, particularly access
to insurance following genetic testing, has been reported in
the literature. This paper aims to separate myths from realities
regarding genetic discrimination in life insurance and to underline
the positive aspects of allowing insurers access to relevant
genetic information for underwriting purposes. We present a
review of the literature pertinent to discrimination in life
insurance and a comparative analysis of industries guidelines.
There are few reported cases in the literature of validated
genetic discrimination. However, the benefits to be gained by
allowing insurers access to relevant genetic data could justify
fostering a more active role in the use of genetic information
by insurance companies.
Juth, N. (2003). "Insurance companies' access to genetic
information: why regulation alone is not enough." Monash
Bioeth Rev 22(1): 41.
The background of this paper is the ongoing dismantling of the
social insurance systems in favour of commercialisation and
privatisation of insurances needed for illness, old age and
premature death. This combined with the increased possibility
of using genetic testing for differentiating personal insurance
premiums has the potentiality of creating a 'genetic proletariat'--an
uninsurable high-risk population. The common way of handling
this problem in Sweden, and many other developed countries around
the North Atlantic, has been to regulate insurance companies'
right to ask for and use genetic information in various ways.
There is a distinction between partial regulation (that allows
insurance companies access to genetic information from genetic
tests already made, sometimes only above a specified amount,
but not to demand new tests) and total regulation (that forbids
insurance companies to ask for or use any genetic information).
I will argue that these forms of regulation probably will have
adverse consequences given the dismantling of collective social
insurance systems. If this is convincing, a better way to solve
the problem of an uninsurable high-risk population (and other
problems) is to resurrect the collective, obligatory insurance
systems in which the individual risk profile does not constitute
a basis for premium determination. Both arguments cast in terms
of consequences and justice render support for this conclusion.
Klooslerman, A. and H. Janssen (1997). "Principal innovations
about DNA in Dutch legislation." International Forensic
Science 88: 58.
Knoppers, B. M., D. Avard, et al. (2002). "Science and
society: children and incompetent adults in genetic research:
consent and safeguards." Nat Rev Genet 3(3): 225.
Recent changes to the legal and ethical criteria that govern
the inclusion of children and incompetent adults in genetic
research are likely to lead to advances in research, but might
leave the rights of the participants in this research in need
of additional safeguards. Here, we discuss why this might be
and propose policy considerations that could help to protect
the rights of these particularly vulnerable groups of research
participants.
Knoppers, B. M. and C. Fecteau (2003). "Human genomic
databases: a global public good?" Eur J Health Law 10(1):
41.
Knoppers, B. M. and Y. Joly (2004). "Physicians, genetics
and life insurance." CMAJ 170(9): 1423.
Lemmens, T. (2000). "Selective justice, genetic discrimination,
and insurance: should we single out genes in our laws?"
McGill Law J 45(2): 412.
This article discusses the desirability of legislation focusing
on genetic discrimination, in particular in the context of insurance.
Many American states and some European countries as well as
the Council of Europe have introduced protective measures against
discrimination on the basis of genetic susceptibility. The author
questions their effectiveness and queries whether they may be
inequitable, because they fail to address more fundamental underlying
issues related to the nature of insurance, access to health
care, and unequal distribution of wealth. There is also a problem
of definition in these statutes. They fail to capture what constitutes
genetic information. Nonetheless, the author argues it is important
to consider the social consequences of genetic testing. Michael
Walzer's theory of justice is used to examine the role of insurance
and health care. Using this approach, the author finds the American
system of distribution for health care to be problematic. This
is then used to inform the author's discussion of the future
of health care in Canada. Anti-discrimination provisions could
be used in a way that is consistent with Walzer's theory of
justice. They would encompass both genetic and non-genetic health
factors. These can be modelled on current anti-discrimination
statutes in Canada. The author then proposes administrative
committee structures to regulate the use of genetic data in
Canada.
Lernmark, B., H. Elding-Larsson, et al. "Parent responses
to participation in genetic screening for diabetes risk."
Pediatric Diabetes 5(4): 174.
MacBean, A. (2002). "The patentability of human beings:
the effect of a proposed exclusion in the Patents Act 1953."
Law Rev 33(2): 407.
The author critically examines the debate over whether "human
beings" ought to be patentable. The article outlines the
choices between excluding just the patenting of whole organisms
or parts of organisms. After considering New Zealand, Canadian,
and European Union Patent law, the author concludes that at
very least New Zealand must statutorily prevent the patenting
of whole organisms.
Matthew Liao, S. (2005). "The ethics of using genetic
engineering for sex selection." J Med Ethics 31(2): 118.
It is quite likely that parents will soon be able to use genetic
engineering to select the sex of their child by directly manipulating
the sex of an embryo. Some might think that this method would
be a more ethical method of sex selection than present technologies
such as preimplantation genetic diagnosis (PGD) because, unlike
PGD, it does not need to create and destroy "wrong gendered"
embryos. This paper argues that those who object to present
technologies on the grounds that the embryo is a person are
unlikely to be persuaded by this proposal, though for different
reasons.
McCabe, L. L. and E. R. McCabe (2001). "Postgenomic medicine.
Presymptomatic testing for prediction and prevention."
Clin Perinatol 28(2): 434.
Significant changes are occurring in genetic screening paradigms.
Genetic screening is moving from traditional analytes, such
as small molecules and proteins, to molecular genetic testing
involving DNA and RNA. There are significant consequences to
these changes, involving issues for the family unit, such as
misattribution of parentage, and concerns regarding discrimination,
confidentiality, and privacy. Although these latter issues have
broader concerns for medicine and medical information, in the
context of genetic testing, information derived from one individual
can have a significant impact on others within their family.
Screening is also changing from mendelian disease ascertainment
to predictive testing. Issues that arise involve appropriate
age at testing for adult-onset disorders, the clinical validity
and clinical use of genetic testing for complex diseases, and
the efficacy of interventions following genetic testing. We
are also learning that the phenotypes of even simple mendelian
disorders are influenced by complex genetic and environmental
factors. The observations that genotypes rarely predict phenotypes
absolutely have significant ramifications for counseling based
on mutation analysis, for example in neonates who have not yet
manifested symptoms and in older children and in adults undergoing
predictive testing. Molecular genetic testing often proceeds
rapidly from the research laboratory to the clinical setting.
We must recognize that for single-gene disorders with high penetrance,
the information derived from such testing may be relatively
easy to interpret and apply. For complex diseases, however,
the populations studied and their demographic characteristics
are extremely important for extrapolation to counseling of individual
patients. The value of population-based predictive testing is
exemplified by newborn screening. It is clear that the Human
Genome Project, and the information and technologies from it,
will have a much broader impact on public health by presymptomatic
prediction and prevention of disease.
Menikoff, J. (2005). "Full Disclosure: telling patients
when not being a research subject is a good choice." Perspectives
in Biology and Medicine 48(1): S149.
Michie, S., M. Bobrow, et al. (2001). "Predictive genetic
testing in children and adults: a study of emotional impact."
J Med Genet 38(8): 526.
AIM: To determine whether, following predictive genetic testing
for familial adenomatous polyposis (FAP), children or adults
receiving positive results experience clinically significant
levels of anxiety or depression, and whether children receiving
positive results experience higher levels of anxiety or depression
than adults receiving positive results. DESIGN: Two studies,
one cross sectional and one prospective. SAMPLE: 208 unaffected
subjects (148 adults and 60 children) at risk for FAP who have
undergone genetic testing since 1990. MAIN MEASURES: Dependent
variables: anxiety, depression; independent variables: test
results, demographic measures, psychological resources (optimism,
self-esteem). RESULTS: Study 1. In children receiving positive
results, mean scores for anxiety and depression were within
the normal range. There was a trend for children receiving positive
results to be more anxious and depressed than those receiving
negative results. In adults, mean scores for anxiety were within
the normal range for those receiving negative results, but were
in the clinical range for those receiving positive results,
with 43% (95% CI 23-65) of the latter having scores in this
range. Regardless of test result, adults were more likely to
be clinically anxious if they were low in optimism or self-esteem.
Children receiving positive or negative results did not experience
greater anxiety or depression than adults. Study 2. For children
receiving a positive test result, mean scores for anxiety, depression,
and self-esteem were unchanged over the year following the result,
while mean anxiety scores decreased and self-esteem increased
after receipt of a negative test result over the same period
of time. CONCLUSION: Children, as a group, did not show clinically
significant distress over the first year following predictive
genetic testing. Adults were more likely to be clinically anxious
if they received a positive result or were low in optimism or
self-esteem, with interacting effects. The association between
anxiety, self-esteem, and optimism suggests that counselling
should be targeted, not only at those with positive test results,
but also at those low in psychological resources.
Mitchell, J., C. R. Scriver, et al. (1993). "What young
people think and do when the option for cystic fibrosis carrier
testing is available." J Med Genet 30(7): 542.
We report findings in phase II of a pilot study of cystic fibrosis
(CF) carrier screening/testing by mutation analysis. Phase I
has been reported elsewhere. Eligible participants in phase
II (n = 815) were students (15 to 17 years of age) in public
high schools. An educational component (exchange of information
and discussion about common genetic disorders including CF)
preceded, by one week or more, voluntary participation in the
screening component which required a blood sample. The uptake
rate for screening was 42%. Nine carriers (2pq = 0.0260) were
identified, all with the delta F508 mutation; students were
also tested for G551D, G542X, W1282X, and -549-mutations, but
no carriers of these alleles were found. Carriers had positive
views of the education and testing experiences. Persons identified
as 'non-carriers' were also surveyed (n = 135, response rate
41%). As in phase I, the majority (83%) again understood that
a negative DNA test had not excluded them from possible carrier
status. Students who participated in the informational component
but were not screened served here as controls in the follow
up survey (n = 208, response rate 53%). Their views were similar
to those of the screened non-carriers, and similar also to those
held by students, adults, pregnant women, couples, and CF relatives
in other communities.
Mulder, E. and F. Heyting (1999). "The Dutch curve: The
introduction and reception of intelligence testing in the Netherlands,
1908-1940." Journal of the History of the Behavioral Sciences
34(4): 366.
Nordin, K., J. BjÃrk, et al. (2004). "Factors influencing
intention to obtain a genetic test for a hereditary disease
in an affected group and in the general public." Prev Med
39(6): 1114.
BACKGROUND: To ensure successful implementations of genetic
screening in the future, the attitudes of the public are an
important factor to consider. The primary aim of this study
is to investigate the intention to take a genetic test for an
unidentified hereditary disease. A further objective is to assess
the predictive values of attitudes, subjective norms, and perceived
personal control on the intention to take a genetic test. These
aims are investigated in two groups differing in their experience
and knowledge of genetic testing. METHOD: A questionnaire was
developed according to the Theory of Planned Behavior (TPB)
and mailed to a random sample of 1000 persons from the general
public and to 330 persons in FAP families. The response rate
was 60% and 74%, respectively. RESULTS: The probability of taking
a genetic test was high in both groups but significantly higher
in the FAP group. The attitudes of the FAP group were significantly
more positive when compared to the attitudes of the general
public. For the persons in the FAP group, the most significant
others in the decision to take a genetic test were their children,
whereas spouses proved to be the most important significant
others in the general public. The most important predictor of
the intention to take a test in both groups was attitude, accounting
for 64% of the variance. CONCLUSIONS: The study indicated that
most of the individuals in the FAP group and many in the general
public intended to take a genetic test. Our findings suggest
that living in an affected group and having some kind of experience
of a hereditary disease may lead to an even more positive attitude
to genetic testing. Using the TPB, attitudes were found to be
the strongest predictor of intention to take a genetic test
in both groups.
Nyrhinen, T., H. Leino-Kilpi, et al. (2004). "Ethical
issues in the diagnostic genetic testing process." New
Genet Soc 23(1): 87.
The diagnostic genetic testing process has certain unique ethical
features and deserves special consideration. The purpose of
this study was to determine through empirical research, using
focussed interview, what ethical issues are involved in the
diagnostic genetic testing process. This article describes views
and perceptions of adult patients, parents of child patients
and various personnel groups (n=30). The ethical issues were
analysed classified into three main categories: a) personnel
characteristics, including personality, professional skills,
morals and values; b) realization of ethical principles in the
examination process, with subcategories of knowledge, autonomy,
data protection and equity; and c) consequences of genetic testing,
including patients' control over their own lives, manifestation
of heterogeneity and outlook on the world. Problematic ethical
issues in all three main categories were described in a more
many-sided way by parents and personnel than by adult patients.
In the future, attention should be paid to the content areas
highlighted by the study, in both clinical practice and further
studies.
Palmer, S. C., A. Kagee, et al. (2002). "Overemphasis
of psychological risks of genetic testing may have "dire"
consequences." Psychosomatics 43(1).
Press, N. A., Y. Yasui, et al. (2001). "Women's interest
in genetic testing for breast cancer susceptibility may be based
on unrealistic expectations." Am J Med Genet 99(2): 110.
We report on results of an interview study assessing women's
attitudes toward and hypothetical interest in genetic susceptibility
testing for breast cancer. Data are from 246 interviews with
women of varying ethnicity (African American, European American,
Native American, and Ashkenazi Jewish), family history of breast
cancer (negative, positive, and borderline), and educational
level. Semistructured interviews included questions on general
health beliefs; attitudes, experiences, and concerns about breast
cancer; and hypothetical interest in genetic testing. Influence
of specific test characteristics was assessed with 14 Likert
scales varying negative and positive predictive value, timing
of disease, possible medical interventions following a positive
result. Results reported include both statistical and qualitative
analysis. We found that women had a high level of interest in
testing which, in general, did not vary by ethnicity, level
of education, or family history. Interest in testing appeared
to be shaped by an exaggerated sense of vulnerability to breast
cancer, limited knowledge about genetic susceptibility testing,
and generally positive views about information provided through
medical screening. However, study participants were most interested
in a test that didn't exist (high positive predictive value
followed by effective, noninvasive, preventive therapy) and
least interested in the test that does exist (less than certain
positive predictive value, low negative predictive value, and
limited, invasive, and objectionable therapeutic options). Our
data suggest that without a careful counseling process, women
could easily be motivated toward interest in a test which will
not lead to the disease prevention they are seeking.
Sheikh, A. A. (2004). "Genetic research & human biological
samples: some legal and ethical considerations." Med Law
23(4): 912.
This paper examines the medico-legal and medico-ethical issues
that ethics committees and researchers will have to consider
when examining proposals pertaining to non-therapeutic genetic
research. This paper is limited to the examination of issues
that relate to those individuals who donate bodily/DNA samples
for the purposes of non-therapeutic genetic research. The issues
that arise are those of (i) informed consent and those with
diminished capacity (ii) the drafting of consent forms as they
relate to genetic research (iii) confidentiality, genetic research
with non-EU countries and the implications of the EC Directive
on the Protection of Data: 95/46/EC and (iv) an examination
of international ethical guidelines. The paper concludes with
(i) a summary of the main points of concern that ethics committees
must consider before the approval of genetic research (ii) the
manner in which consent forms must be drafted and (iii) a brief
look at medico-legal issues that will become important and will
have to be considered in Ireland in the near future in relation
to genetic research.
Sheremeta, L. and B. M. Knoppers (2003). "Beyond the rhetoric:
population genetics and benefit-sharing." Health Law J
11: 117.
Smith, A. C., J. Mugabe, et al. (2005). ""Harnessing
genomics to improve health in Africa" - an executive course
to support genomics policy." Health Res Policy Syst. 3(1):
2.
Tanaka, Y. (2004). "Major Psychological Factors Affecting
Acceptance of Gene-Recombination Technology." Risk Anal
24(6): 1583.
Tauer, C. A. (2001). "Genetic testing and discrimination.
How can we protect job and insurance policy applicants from
negative test consequences?" Health Prog 82(2).
Thomas, C. (2004). "Guthrie test samples: is the problem
solved?" N Z Bioeth J 5(2): 33.
Most babies born in New Zealand have a blood sample taken shortly
after birth for the purposes of certain screening tests. The
samples are retained indefinitely. This paper considers whether
such samples are the property of the child and whether the present
changes in the Health (National Cervical Screening Programme)
Amendment Bill and the Code of Health and Disability Services
Consumers' Rights of 1996 are sufficient to resolve the issues.
The paper expresses concern about the delegation of decision-making
in this area to ethics committees.
Treloar, S., S. Taylor, et al. (2004). "Methodological
considerations in the study of genetic discrimination."
Community Genet 7(4): 168.
The potential significance and dimensions of genetic discrimination
have been described extensively in published literature, but
epidemiological and verified case data are limited. Obtaining
unbiased data from individuals about discrimination which has
been based on erroneous or unjustifiable assumptions about their
genetic predispositions poses unique challenges. Through review
and discussion of research literature, we identify methodological
considerations for collecting valid epidemiological data on
genetic discrimination from individuals in the community; in
particular, we consider issues which relate to sampling, selection
and response. We identify issues to promote sound study design,
with particular attention to verification of genetic discrimination,
and highlight the importance of clinical and genetic knowledge
of complex genotype-phenotype relationships.
Vuckovic, N., E. L. Harris, et al. (2003). "Consumer knowledge
and opinions of genetic testing for breast cancer risk."
Am J Obstet Gynecol 189(4 Suppl).
Although clinical evidence shows the value of genetic testing
for breast cancer risk, consumer opinion about the test-and
its outcomes-may differ. We conducted focus groups with white
and black women to assess consumer opinions about genetic testing
for breast cancer risk. We conducted 5 focus groups with women
between the ages of 30 and 79. Participants were not selected
for personal or family history of breast cancer. The findings
of these focus groups suggest that consumers' understandings
of risk, genetics, and genetic testing can differ considerably
from clinical definitions and interpretations. Clinical information
appeared to be interpreted by participants based on personal
experience and beliefs about genetics and disease causation.
Our findings also suggest that many consumers have incomplete
or erroneous knowledge about genetic testing (eg, whether the
test should be repeated annually). Participants gave greater
attention to the emotional and social consequences of positive
test results than to their physical outcomes, suggesting that
emotional and social issues may be more salient in decision
making about whether to be tested. Sensitivity to the possibility
that consumers may use nonclinical criteria to assess the value
of genetic testing can help clinicians counsel women about testing
and what actions to take after testing.
Winickoff, D. E. (2003). "Governing population genomics:
law, bioethics, and biopolitics in three case studies."
Jurimetrics 43(2): 228.
Existing scholarship on population genomics has only superficially
addressed issues of power and political process. Accordingly,
questions of politics and governance pervade the analysis of
three population genomics case studies that follow: the Human
Genome Diversity Project, Iceland's Health Sector Database,
and "Clinical Genomics" as defined by the Beth Israel-Ardais
collaboration. An examination of these case studies reveals
that the common law, U.S. regulatory law, and international
law have not developed the political sophistication to make
the traditional promises of biomedical ethics--respect for autonomy,
justice, and beneficence--come to fruition. Further, comparisons
of these projects illuminate three areas ripe for reframing--informed
consent, expert ethical oversight, and commercial benefits.
Four avenues of reform are suggested.
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