Over the past decade, genetic tests have become available for a wide
variety of disorders. As a result we are able to predict, with some
degree of certainty, whether or not an individual will develop such
diseases as breast cancer, Huntington's disease, polycystic kidney
disease, and familial adenomatous polyposis. The ability to predict
disease poses several unique ethical considerations for clinical
decisionmaking regarding the provision of genetic testing. Patients
must be able to comprehend the complexities of genetic testing and the
potential meaning of the results. Patients must consider the emotional,
social, and economic consequences of revelations regarding their risk
status. Also, obtaining information on risk status may have
implications for persons other than the individual seeking genetic
testing.
The decision to test children for risk of genetic disease is further
complicated by the fact that, until they reach the age of majority or
are deemed emancipated minors, parents must make decisions on their
behalf. Children have particular developmental, social, and emotional
vulnerabilities that must be considered in any decision to conduct
genetic testing and/or impart results to them. Policies regarding
genetic testing in children seem to vary according to whether any
medical benefit is to be expected from testing. For example,
population-based screening for phenylketonuria, hemoglobinopathies, and
galactosemia are a routine part of pediatric care. Testing for these
conditions has been shown to reduce morbidity and mortality, and there
are now few ethical concerns regarding current population-based
screening programs. Also, testing children for genetic conditions such
as cystic fibrosis and sickle cell anemia is relatively uncontroversial
as there are significant benefits to be derived from early diagnosis
and medical treatment. However, genetic testing becomes more
controversial when there are no or questionable medical benefits to be
derived, such as in late-onset autosomal dominant diseases. Consider
the case presented by Smith et al.1
Smith
DH, Quaid KA, Dworkin RB, Gramelspacher GP, Granbois JA, Vance GH.
Early Warning: Cases and Ethical Guidance for Presymptomatic
Testing in Genetic Diseases. Indianapolis: Indiana University
Press; 1998.
Mr. Crawford's son married a woman at risk for
Huntington's Disease (HD). The couple, now divorced, was married
for eight years and had a son and daughter. The boy is now eight years
old and the girl is six. These children are at 25 percent risk for HD.
Mr. Crawford believes that the mother of his former daughter-in-law has
been diagnosed with HD; the former daughter-in-law has repeatedly said
that she is not interested in testing for herself. Mr. Crawford has
other children and grandchildren; a widower of significant means, he
has been diagnosed with inoperable cancer. He wishes to treat his
grandchildren equitably, but he believes that special needs require
special commitments. He contemplates setting up a trust fund for his
son's children to ensure adequate care for them should they
develop HD. In order to know whether he should make these arrangements,
Mr. Crawford wants to have his grandchildren tested. (p.
72)
In considering whether or not Mr. Crawford's request should be
honored, a panel of coauthors in Smith et al. raised the question of
whether or not children should ever be tested for HD. The
majority of the panel felt that the children should not be tested, even
if testing were requested by the children's parents. Their
conclusions were based upon the following arguments: (1) HD is a late
onset disease with high penetrance, and for which there is no known
cure or treatment. Symptoms are not likely to occur until after age 30
and, thus, it is extremely difficult to see how testing is in the
children's medical interest. (2) In HD, no medical advantages are
lost by waiting and allowing the children to decide for themselves
whether they want to be tested. (3) Mr. Crawford may actually have
wanted the test results to favor the other children in the distribution
of his estate, that is, avoiding a “bad investment” in a
child who carries HD. (4) Parents should be prevented from making
choices that place their children at great risk, and the act of testing
a child for HD is both risky and irrevocable. Knowledge of HD risk
status was assumed to be harmful to the child's self-image and
possibly harmful to the parent–child relationship. The panel
notes that studies with adults have shown harmful consequences of
testing in adults, even when the results were negative.2
See note 1, Smith et al. 1998.
Paternalistic Attitudes in Arguments
Regarding Refusal of Genetic Testing in Children
To what extent is the view proposed by Smith et al. paternalistic?
When we refer to paternalism in the ethics literature, we generally
think in terms of the liberty-limiting principle that we may force a
person to do something or that we should be able to do something to
another person for that person's own good. Philosophers generally
distinguish between two types of paternalism, weak and
strong. Weak paternalism justifies doing something to
the person without their consent and for their own good but only when
the voluntariness of the person's conduct is in
question—such as when the person has a serious mental defect, is
ignorant, or his/her decisionmaking is otherwise impaired.
Strong paternalism justifies doing something to the person
without their consent or for their own good, even when the
person's behavior is substantially voluntary. In other words,
strong paternalism involves interfering with an agent's
autonomous choices.3
McConnell T.
Moral Issues in Health Care: An Introduction to Medical
Ethics. New York: Wadsworth Publishing Company; 1997.
When cases of paternalism are described in the literature, they usually
involve some direct action, such as a procedure or test being performed
because it is felt to be in the patient's best interest. However,
paternalism may also refer to decisions
not to take action on
patients' requests, because the actions are not believed to be in
their best interest.
According to Faden and Beauchamp, medicine has a long history of
paternalism.4
Faden RR, Beauchamp TL.
A History and Theory of Informed Consent. New York: Oxford
University Press; 1986.
In the interest of “doing no
harm” Hippocratic writings advised physicians to
“[conceal] most things from the
patient….[Turn] his attention away from what is being
done…and [reveal] nothing about the patient's
future or present condition.” Not until the 18th century were
physicians encouraged to share information with their patients, and
only then to encourage their adherence to medical care. Deception and
falsehood have historically been seen as acceptable as long as the
objective was to give hope to the patient. It was only in 1980 that the
American Medical Association's Code of Medical Ethics was revised
to include injunctions for physicians to deal honestly with patients
and to respect their rights.
5 See note 4,
Faden, Beauchamp 1986.
In recent years, with the consumer
movement of the 1970s and 1980s, and the recent focus on issues of
consent in clinical studies, the autonomy model has begun to take
precedence over the beneficence model. Consequently, it has become more
difficult to justify cases of strong paternalism.
As the decisionmaking agent for their families, we argue that
prohibiting parents from having access to genetic testing of their
children for HD is like traditional definitions of strong paternalism
in that others are presuming to know what is best for the family. It is
unlike strong paternalism in that the freedom of the parents is being
restricted for the alleged good of the children (i.e., not the parents
themselves). Against this notion of quasi-strong paternalism we present
the following arguments for disclosure of children's HD status to
their parents based on (1) alternative explanations of the harms and
benefits to the child of limited disclosure of HD status, (2) the harm
of medicalizing issues of death and dying, and (3) the usefulness of a
model of “constrained parental autonomy” in medical
decisionmaking as it pertains to children.
In the case in question, the mother has indicated that she does not
want any information about her risk status and, if she were to learn
that one of her children has HD, the mother will know that she also has
the disease. With this being the case one can assume that parental
consent to have the children tested has not been obtained from both
parents, which complicates the case somewhat. However, Smith et al.
argue that, regardless of the parents' wishes, children should not
be tested for HD.6
See note 1, Smith et
al. 1998.
It is this conclusion that we will criticize in the
paper.
Harms and Benefits of Permitting Genetic
Testing in Children
How Harmful Is the Truth for Parents?
Consequentialist arguments against childhood testing for HD would
include the following: (1) knowing HD status would cause harm,
negatively influencing the child's self-image, causing undue
anxiety, and altering normal parent–child interactions and (2)
knowing HD status would provide no medical benefits for the child.
Thus, testing is wrong because it involves risks with no attendant
medical benefits.
Several researchers have found severe illness episodes in infancy
(e.g., prematurity, low birth weight, and problems at birth) to be
linked to a persistent sense of vulnerability and protectiveness on the
part of the parent despite the child's obvious health.7
Green M, Solnit AA. Reactions to the
threatened loss of a child: A vulnerable child syndrome.
Pediatrics 1964;34:58–66; Estroff DB, Yando R, Burke K,
Snyder D. Perceptions of preschoolers' vulnerability by mothers
who had delivered preterm. Journal of Pediatric Psychology
1994;19:709–21; Kemper KJ, Forsyth BW, McCarthy PL. Persistent
perceptions of vulnerability following neonatal jaundice. American
Journal of Diseases of Children 1990;144:238–41.
A
major assumption in the “vulnerable child” literature is
that past health events disproportionately affect maternal assessment
of the subsequent health of the child and may be harmful to the child.
However, more recent research does not support the persistence of the
vulnerable child syndrome and has demonstrated a lack of association
between health in infancy and later maternal ratings of current health
in school-age children.
8 McCormick MC,
Brooks-Gunn J, Workman-Daniels K, Peckham GJ. Maternal rating of child
health at school age: Does vulnerable child syndrome persist?
Pediatrics 1993;92:380–8.
Furthermore, findings
of vulnerable child syndrome in families experiencing severe infant
health events should not be generalized to families with children at
risk of a late onset genetic disease. No empirical studies supporting a
relationship between knowledge of a child's genetic risk and
altered parenting were found in the literature. However, even if we
were to assume that the population in question may be subject to
vulnerable child syndrome or other unhealthy parenting behavior, we
would make the following arguments. (1) All children known to be at
risk of late onset genetic disease are at risk to suffer this syndrome
whether they have been tested or not. Parents generally know that their
child is at risk for HD, and may treat tested children no differently
than untested children. (2) Parental perceptions of child vulnerability
may be exacerbated in the absence of information. Not knowing the truth
and being left to wonder may cause more anxiety than hearing the truth.
Parents may become overvigilant, watching for each and every sign that
their child is affected. (3) At least some vulnerable child syndrome
cases could be avoided by providing parents with accurate
information.
Is Disclosure of Genetic Risk Harmful to the Child?
Clearly, there are circumstances in which disclosing genetic risk is
harmful to a child. However, as they grow, children become increasingly
able to use complex reasoning, to understand death, and to imagine a
future for themselves.9
Harrison C, Kenny
NP, Sidarous M, Rowell M. Bioethics for clinicians: 9. Involving
children in medical decisions. Canadian Medical Association
Journal 1997;156:825–8.
Most parents are fully
capable of determining where their children are in this developmental
process and how and when children should be told of their risk status.
Unfortunately, no empirical data exist to suggest the harms or benefits
of revealing genetic risk to children or the optimal timing of
disclosure.
We do know a few things about children's response to disclosure
of parental illness. Barnes et al. conducted a recent qualitative study
of how parents communicate with their children regarding maternal
breast cancer.10
Barnes J, Kroll L, Burke
O, Lee J, Jones A, Stein A. Qualitative interview study of
communication between parents and children about maternal breast
cancer. Western Journal of Medicine
2000;173:385–9.
Most parents informed their children of
the diagnosis, and gave the following reasons for doing so: (1)
maintaining open communication was important and would help in coping
with the future, (2) open communication was important for maintaining
trust, and (3) open communication was expected to alleviate
children's distress. Nelson et al. found that when children are
told of a diagnosis of their parent's cancer, anxiety levels are
lower and communication within the family is improved.
11 Nelson E, Sloper P, Charlton A, While D.
Children who have a parent with cancer. A pilot study. Journal of
Cancer Education 1994;9:30–6.
With respect to telling children bad news about themselves, no
research was found regarding disclosure of HD to children. However,
studies of HIV, cancer, leukemia, and other chronic illness indicate
that disclosure may be instructive. Goldman, in her work with
terminally ill children, notes that children always know more than
their parents think they do, and that families who maintain open
communication cope most effectively when told bad news.12
Goldman A. ABC of palliative care: Special
problems of children. British Medical Journal
1998;316:49–52.
In a study of long-term survivors of
pediatric cancer, Slavin et al. found that good psychosocial adjustment
was associated with patients' early knowledge of their diagnosis
and posited that when there is no disclosure children may feel
isolated, develop mistrust, and have frightening fantasies.
13 Slavin L, O'Malley J, Koocher G,
Foster D. Communication of the cancer diagnosis to pediatric patients:
Impact on long-term adjustment. American Journal of Psychiatry
1982;139:179–83.
We have long known that young patients
with serious illness are aware of their illness and that not being told
increases their anxiety.
14 Spinetta J,
Maloney J. Death anxiety in the outpatient leukemic child.
Pediatrics 1975;56:1035–7.
Children sense
distress and sadness of those around them despite our efforts to behave
in a normal manner and, without being told, come to understand that
they are ill.
Obviously, disclosure of a parent's or child's HD status to
the child will require consideration of the developmental level of the
child. A review and critique of the cognitive developmental literature
addressing children's concepts of illness15
Burbach D, Peterson L. Children's concepts of
physical illness: A review and critique of the cognitive-developmental
literature. Health Psychology 1986;5:307–25.
revealed that illness concept varied with developmental level, that is,
Piaget's prelogical, concrete logical, and formal logical.
16 Bibace R, Walsh ME. Development of
children's concepts of illness. Pediatrics
1980;66:912–7.
There was a significant association
between cognitive developmental level and understanding of illness
cause and the treatment of illness.
17 Carandang M, Folkins CH, Hines PA, Stewart M. The role of
cognitive level and sibling illness in children's
conceptualization of illness. American Journal of
Orthopsychiatry 1979;49:474–81.
Less cognitively
mature children conceived of illness as a moral issue and were more
likely to feel they were to be blamed.
18 Cook S. The development of causal thinking with regard to
physical illness among French children. Lawrence: University of Kansas;
1975.
Thus, the ability of the child to understand his or her
illness will need to be considered in any discussion of genetic testing
and disclosure of results.
Can Healthcare Professionals Accurately Predict How
People Will Respond to Bad News?
Researchers have shown that disabled patients are less concerned with
their physical disabilities than are clinicians.19
Rothwell PM, McDowell Z, Wong CK, Dorman PJ. Doctors and
patients don't agree: Cross sectional study of patients' and
doctors' perceptions and assessment of disability in multiple
sclerosis. British Medical Journal
1997;314:1580–3.
Studies have also shown clinicians to
underestimate the quality of life of disabled persons. Perhaps some of
the reticence to disclose HD status may be a function of the biases of
clinicians toward the sick and disabled, rather than a realistic
assessment of how such news will be received. We admit that some
studies have shown adults to experience negative reactions to news
about their HD status. However, we argue that it is unrealistic to
expect such individuals to have a positive or neutral response on being
told that they will develop the disease. Furthermore, one might argue
that growing up with the knowledge that one has HD might be less
traumatic than anxiously watching for signs year after year or trying
over a period of years to deny personal risk, only to be told the
unwelcome news later in life. Studies also show that some individuals
experience a negative reaction to being told that they do
not
have the disorder. Such a negative response could be avoided altogether
by early testing.
Are Medical Benefits the Only Important Benefits to Be
Considered?
We argue that medical interests are not the only interests to be
considered. Children have a variety of personal and economic interests,
and may benefit by their parents' awareness of their HD status. In
the case in question, the children with HD could clearly benefit from
their grandfather's estate. Ultimately, persons affected by HD
will require some form of long-term care. The long-term care system in
the United States is pieced together from a variety of service
providers and payer systems, and patients requiring long-term care
often have a difficult time obtaining the appropriate level of care at
an affordable price. Insurance coverage for homecare options such as
adult day care, homecare, and respite care is virtually nonexistent.
Thus, unless resources are available to pay for homecare, individuals
with HD may find themselves in a nursing home long before
institutionalization is absolutely necessary. On the other hand,
disclosure of HD status may have negative consequences in terms of
employment opportunities and the opportunity to obtain insurance
coverage. Such risks are real but should be weighed against the
potential economic benefits to be gained by planning for future
contingencies.
Parents can also provide appropriate guidance to their children
regarding career choices that will maximize their productivity, safety,
and quality of life. In the case of HD, parents may provide
anticipatory guidance pertaining to career choices and encourage the
development of interests and hobbies that do not require fine motor
skills, enabling their children to maintain work and leisure activities
after becoming symptomatic. Parents can encourage a sense of
responsibility on the part of the entire family, which may benefit
affected children in the form of a long-term commitment of siblings to
support each other.
Medical Arguments for Early Testing
An additional consideration in support of earlier testing for late
onset diseases such as Huntington's is the phenomenon of
“anticipation.” Anticipation, a term used to describe the
tendency for age of onset of a dominantly inherited disorder to be
earlier in the offspring than it was in the parent, is operative in
Huntington's Disease. As many as 10% of affected individuals with
HD have symptoms by age 20.20
Carpenter
N. Genetic anticipation. Expanding tandem repeats. Neurologic
Clinics 1994;12:683–97; Ridley R, Firth C, Crow T, Conneally
P. Anticipation in Huntington's disease is inherited through the
male line but may originate in the female. Journal of Medical
Genetics 1988;25:589–95.
Thus, although the typical
age of onset is in middle age, it may begin at anytime between
childhood and old age.
21 Folstein SE,
Chase GA, Wahl WE, McDonnell AM, Folstein MF. Huntington disease in
Maryland: Clinical aspects of racial variation. American Journal of
Human Genetics 1987;41:168–79.
Juvenile onset (<21 years) is a variant of Huntington's
Disease, some cases of which show special clinical and hereditary
features.22
Myers R, Madden J, Teague J,
Falek A. Factors related to onset age of Huntington disease.
American Journal of Human Genetics
1982;34:481–8.
Marked rigidity, severe mental
deterioration, pronounced motor and ceribellar symptoms, rapid decline,
and epilepsy characterize early onset cases.
23 van Dijk J, van der Velde E, Roos R, Bruyn G. Juvenile
Huntington Disease. Human Genetics
1986;73:235–9.
Any family where the possibility of
Huntington's Disease exists should be referred to a genetic
professional for a pedigree analysis and detailed genetic counseling.
If there is evidence of anticipation within a pedigree and the age of
onset is earlier with each generation, then it is reasonable to seek a
genetic diagnosis in childhood as a basis for planning for care of the
child, as well as preparing other members of the family.
Finally, limiting the testing for Huntington's Disease to those
over 18 ignores the fact that transmission of the defect via
reproduction is possible well before that age.24
Bloch M, Hayden M. Opinion: Predictive testing for
Huntington disease in childhood: Challenge and implications.
American Journal of Human Genetics 1990;46:1–4.
It is acknowledged in the ASHG/ACMG Report that a substantial
psychosocial benefit to the competent adolescent may be a justification
for genetic testing.
25 Anonymous. Points
to consider: Ethical, legal, and psychosocial implications of genetic
testing in children and adolescents. American Society of Human Genetics
Board of Directors, American College of Medical Genetics Board of
Directors. American Journal of Human Genetics
1995;57:1233–41.
Relevant issues include the impact on
decisions relating to reproduction. In addition prenatal testing DNA
analysis is available for fetuses at 50% risk. Fetuses at 25% risk can
also be tested using linkage analysis in such a way that the genetic
status of the at-risk parent is not revealed.
Medicalization of Death and Dying
Demographic and technological changes in the 20th century have
resulted in death becoming a taboo subject. In former times, early
death was not uncommon. People lived in constant anticipation of death,
and as a result death was treated as a normal part of existence.
Today's society has experienced increased longevity as a result of
reductions in mortality among childbearing women, infants, and
children. Mortality rates have also declined from improvements in
nutrition and social and working conditions and technological advances
in medicine including vaccines, antibiotics, and modern treatments such
as transplants and dialysis. As a result of these changes, death is
generally something that comes to individuals who have lived a
reasonably long life. As a result, we have pushed death and dying onto
the margins of our social consciousness.26
Ballard P. Intimations of mortality: Some sociological
considerations. In: Badham P, Ballard P, eds. Facing Death: An
Interdisciplinary Approach. Cardiff: University of Wales Press;
1996:Chap. 2, pp. 7–28.
Researchers have shown that
discussions of death and dying generally do not occur because
physicians fear causing harm by giving bad news, lack knowledge and
training on how to deliver bad news, view death as the enemy,
anticipate disagreements within the family, and feel threatened by such
discussions.
27 Morrison MF. Obstacles to
doctor–patient communication at the end of life. In: Steinberg
MD, Younger SJ, eds. End-of-Life Decisions: A Psychological
Perspective. Washington, DC: American Psychiatric Press;
1998.
Patients also contribute to lack of communication
concerning issues of death and dying by actively avoiding such
discussions.
28 Hinton J. An assessment of
open communication between people with terminal cancer, caring
relatives, and others during home care. Journal of Palliative
Care 1998;14:15–23; Blackhall LJ, Murphy ST, Frank G, Michel
V, Azen S. Ethnicity and attitudes toward patient autonomy.
JAMA 1995;274:820–5.
Also, because of the increasingly technological nature of medicine
and the application of these technologies to those who are dying, we
have relegated responsibility for dealing with death to healthcare
professionals and the institutions where they work. This
institutionalization of death has had several negative consequences.
Efficiency requires routinization of care, which can be dehumanizing to
patients and families. For the sake of quality standards and
efficiency, generic plans of care are formulated for patients that are
not responsive to individual circumstances. In the name of
institutional efficiency, healthcare professionals often do not have
the time to devote to serious discussions of illness and death, and the
needs of individuals and families may not be adequately addressed.
Because the driving goals behind medical care are curative, death is
seen as a failure or an enemy. Consequently, death is not openly
acknowledged but is, rather, pushed aside. Medical outcomes (e.g.,
survival, death, evidence of medical cure) are seen as the only
outcomes of interest. Patient preferences, pain, quality of life, and
social aspects of health and illness are not addressed in the provision
of medical care.
We would argue that removing from parents the decisionmaking
authority for having children tested for HD effectively reinforces the
medicalization of issues of death and dying. In doing so we stifle any
meaningful discourse on the subject. Healthcare professionals withhold
information regarding genetic risk, family members live in fear of
developing HD but fail to seek confirming tests, and families are
expected to withhold information from children about their potential
risk status. Medicalization of death and dying also places families at
the mercy of a system that is not likely to meet their individual
needs. Families and society would benefit from a family-centered
approach to dealing with the question of how and when to divulged HD
risk status. Under a family-centered approach, individual needs and
preferences of the family can be considered. There is a greater
likelihood that nonmedical needs, such as quality of life and economic
well-being, will be addressed. Responsibility for discussion of death
and dying can be recaptured by the family, who can address the
emotional needs of individual family members better than an impersonal
healthcare system. Death does not have to be seen as the enemy. It can
be considered a normal part of life, an attitude that is more likely to
result in a personal acceptance of one's mortality and,
consequently, a “good death.” Families are in a better
position to handle the realities of death in a positive manner than are
healthcare professionals, and can better serve as an advocate for
patients in having their needs met.
A Model of Constrained Parental Autonomy
In her book Children, Families, and Health Care
Decision-Making, L.F. Ross provides an alternative model for
determining the appropriateness of parental judgments.29
Ross LF. Children, Families, and Health
Care Decision-Making. Oxford: Clarendon Press; 1998.
Rather than evaluating parental decisions according to the “best
interest” principle (in which the only outcome considered is
whether the decision being made optimizes the interests of the child),
she argues that a model of
constrained parental autonomy is
more appropriate. As surrogate decisionmakers, Ross asserts that
parents cannot focus solely on the needs of the child for whom medical
decisions are being made, but must consider the interests and goals of
the entire family. Under this model, parents are permitted to make
intrafamilial trade-offs among family members, provided that the basic
needs of the child are met.
30 In the case of HD, knowing the children's
risk status would permit the transfer of economic assets within the
family such that an affected child's future long-term care needs
can be addressed, provided that the basic needs of all of their
children are met.
Ross further states that parents should be allowed to make these
intrafamilial trade-offs according to their own conception of the good,
provided that each child's basic needs are procured.31
She points
out that, given no consensus on what the good life entails, parents in
a liberal society must be given great latitude in decisionmaking
pertaining to the life plans for their child. Contrary to the positions
taken by Smith et al.,
32 See note 1,
Smith et al. 1998.
parents may place great value on
disclosure. They may prefer to face the future head-on, rather than
live in denial. They may feel that growing up with realistic
expectations is far better than establishing life plans that must later
be abandoned. Families may feel that knowing the truth is less anxiety
provoking that living in the constant dread of discovering symptoms.
Death may not be seen as the enemy.
Finally, Ross advocates great restraint on the part of institutions
in scrutinizing parents and/or intervening to alter the decisions
that they make pertaining to intrafamilial trade-offs, and that
judicial scrutiny should be reserved for those transfers in which
children serve as “donors” to those outside the intimate
family.33
Parents are currently given great discretion in making
medical treatment decisions for and with their children. It is
difficult to see how giving them information about their child is any
more harmful than, say, allowing them to consent to treatments and
therapies for their children that affect their health and survival.
Implications for Practice and Research
In some circumstances, interference with parental choices is
justified. Parents may not have healthy motivations for obtaining
information on genetic risk, may not have the emotional stability to
deal with the information, or may not be able to disclose genetic risk
to their children in a sensitive manner. However, the burden of proof
should be on the healthcare professional or team that is making such a
judgment. We argue that, in investigating the reasonableness of a
request for genetic testing, a family-centered approach should be used
that recognizes the web of social relationships and contexts in which
such a request is made. It is the family that will have the
responsibility of guiding the child through his/her life. The
family needs to be empowered to make the best choices given the
circumstances of the child and the values of the family.
When disclosing bad news to children the literature instructs us to
consider age and level of understanding (cognitive development,
emotional adjustment, and state of health). Bad news is delivered in an
unhurried manner, in private, with family/support persons present,
with kindness, and by a clinician with expert knowledge of the
diagnosis, treatment, and resources available.34
Garwick A, Patterson J, Bennett F, Blum R. Breaking the
news: How families first learn about their child's chronic
condition. Archives of Pediatric and Adolescent Medicine
1995;149:991–7; Krahn GL, Hallum A, Kime C. Are there good ways
to give “bad news”? Pediatrics
1993;91:578–82.
Additional research is needed regarding the manner in which children
at different ages deal with bad news. Descriptive research is needed on
when children born to families at known risk of HD or other late onset
diseases become aware of their own risk, how they deal with this
knowledge, and their expressed preferences for confirmation of their
own risk status. Studies are needed to determine to what extent
“vulnerable child syndrome” is present in families at known
risk of late onset disorders. Descriptive studies that examine how
children perceive risk and the effectiveness of different methods of
disclosing risk would be useful in developing recommendations for
parents regarding how and when to disclose bad news to their children.
We believe that the effectiveness of different models of disclosure of
children's genetic risk should be developed and evaluated.
In summary, we believe that the claim that genetic testing for
adult-onset disorders should never be performed on children is
oversimplified and unwarranted. In most cases, we believe that parents
are fully capable of making considered choices regarding genetic
testing on behalf of their children. Empirical evidence supporting the
notion that disclosure of risk status will harm children and families
is scanty, at best. Denying access to genetic information about their
children reinforces the notion that mortality is unnatural and
something that should not be talked about. It reinforces the notion
that death and dying are best left to institutions, which have a fairly
narrow perspective on the needs of patients and families. Parents
should be able to operate under a principle of constrained autonomy, in
which they are permitted to determine “the good” for their
children, and in which they can make trade-offs within the family to
maximize the well-being of all.
