All in the Family: Disclosure of "Unwanted" Information to an Adolescent to Benefit a Relative

ArticleinAmerican Journal of Medical Genetics Part A 146A(21):2719-24 · November 2008with24 Reads
Impact Factor: 2.16 · DOI: 10.1002/ajmg.a.32362 · Source: PubMed

Ethical assessments of clinical decisions are typically based on the preferences and interests of the individual patient. However, some clinical interventions, such as genetic testing or organ donation, may involve multiple family members. In these cases, one family member may have the potential to benefit, while another family member is exposed to potential physical or psychological risk. In the research setting, the balancing of benefits and risks between family members may be further complicated by uncertainty about their magnitude and likelihood. In addition, when the individual facing these apparently uncompensated risks is a child, the situation becomes particularly ethically complicated, as we appreciated in a recent case. Investigators at the National Cancer Institute were faced with a decision about whether it would be appropriate to disclose apparently "unwanted" research test results (length of telomeres in leukocyte subsets) to an adolescent about risk of future disease (dyskeratosis congenita), possibly causing psychological harm and an ethical wrong. These issues were not expected at the outset of the family's study participation but rather emerged with new data about the research tests. Disclosure of the research finding was an important consideration in order to avoid using the adolescent as a stem-cell donor for his sister. Disclosure to the adolescent could not be justified by merely considering the immediate interests and preferences of the adolescent. However, an expanded ethical analysis that considers the adolescent's familial context offers a more complete picture of the adolescent's interests and preferences which provides justification for disclosure.


Available from: June A. Peters
Published 2008 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 146A:27192724 (2008)
This article is a US Government work and, as such, is
in the public domain in the United States of America.
All in the Family:
Disclosure of ‘‘Unwanted’’ Information to an
Adolescent to Benefit a Relative
Colleen C. Denny,
Benjamin S. Wilfond,
* June A. Peters,
Neelam Giri,
and Blanche P. Alter
Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Maryland
Treuman Katz Center for Bioethics, Seattle Children’s Hospital and Department of Pediatrics,
University of Washington, Seattle, Washington
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland
Received 12 November 2007; Accepted 23 March 2008
Ethical assessments of clinical decisions are typically based
on the preferences and interests of the individual patient.
However, some clinical interventions, such as genetic testing
or organ donation, may involve multiple family members. In
these cases, one family member may have the potential to
benefit, while another family member is exposed to potential
physical or psychological risk. In the research setting, the
balancing of benefits and risks between family members may
be further complicated by uncertainty about their magnitude
and likelihood. In addition, when the individual facing
these apparently uncompensated risks is a child, the situa-
tion becomes particularly ethically complicated, as we
appreciated in a recent case. Investigators at the National
Cancer Institute were faced with a decision about whether it
would be appropriate to disclose apparently ‘‘unwanted’’
research test results (length of telomeres in leukocyte
subsets) to an adolescent about risk of future disease
(dyskeratosis congenita), possibly causing psychological
harm and an ethical wrong. These issues were not expected
at the outset of the family’s study participation but rather
emerged with new data about the research tests. Disclosure
of the research finding was an important consideration in
order to avoid using the adolescent as a stem-cell donor for
his sister. Disclosure to the adolescent could not be justified
by merely considering the immediate interests and prefer-
ences of the adolescent. However, an expanded ethical
analysis that considers the adolescent’s familial context offers
a more complete picture of the adolescent’s interests and
preferences which provides justification for disclosure.
Published 2008 Wiley-Liss, Inc.
Key words: ethics; genetic disclosure; minor children;
dyskeratosis congenita; research results
How to cite this article: Denny CC, Wilfond BS, Peters JA, Giri N, Alter BP. 2008. All in the family:
Disclosure of ‘‘unwanted’’ information to an adolescent to benefit a relative.
Am J Med Genet Part A 146A:27192724.
Many contemporary clinical and medical research
procedures necessarily involve the participation
of more than one ‘‘patient.’’ For example, gamete
donation, carrier testing within a family, and the
transplantation of organs, tissues, or cells all require
more than one individual’s medical participation
for the primary procedure. Often, these other
involved persons are relatives. Such family-groun-
ded procedures involve ethical considerations
that differ importantly from most other medical
decisions. Typically, the primary considerations in
ethical decision-making are the individual’s pre-
ferences and whether the proposed procedure has a
favorable riskbenefit ratio for the individual. In
many of these family-grounded procedures, how-
ever, the overall distribution of risks and benefits of
the procedure is unequal among the family mem-
bers. Direct clinical benefits primarily accrue to one
family member while other involved family members
may face at least some medical risks even though not
receiving any clinical benefit at all. These other
Grant sponsor: Intramural Research Program of the National Institutes
of Health; Grant sponsor: National Cancer Institute.
*Correspondence to: Benjamin S. Wilfond, M.D., Metropolitan Park
West, M/S: MPW 8-2, 1100 Olive Way, Room 875, Seattle, WA 98101.
Published online 1 October 2008 in Wiley InterScience
DOI 10.1002/ajmg.a.32362
Page 1
family members may also experience psychological
harms. For example, misattributed family relation-
ships may be revealed during genetic testing in a
family, or there may be psychological distress follow-
ing donation of organs or tissues to a family member.
Psychological risks such as these are usually not coun-
terbalanced by direct benefit to these individuals.
This apparently unfavorable riskbenefit ratio is
generally justified in two ways. First, many argue that
important psychological benefits accrue as a result
of helping a family member [Clemens et al., 2006].
Second, when adults have decision-making capacity,
and appreciate the psychological (and physical)
risks they are taking, their autonomous choices to
continue with (or refuse) participation in procedures
that may not hold the potential to benefit them
directly are typically respected.
But these traditional justifications are not adequate
in all cases. In particular, what if the person being
exposed to the psychological risk with no compen-
sating potential for direct benefit in a family study is a
child? How should parents balance the interests
between their children? Furthermore, if the child is
capable of considering and expressing preferences,
how should parents and providers respond to such a
child who expresses some dissent to the procedure
that will benefit their sibling? Considering this
question requires balancing respect for the emerging
autonomy of the child with potential benefit to the
This article will address the question of whether
risks of psychological harm to an adolescent and
overriding the adolescent’s preferences, by dis-
closing apparently unwanted genetic information,
can be ethically justified for the purpose of benefiting
a relative. A recent clinical case at the National Cancer
Institute (NCI) raised these issues in the context of a
13-year-old boy who was a potential stem cell
match for an adult sibling with aplastic anemia due
to Dyskeratosis Congenita (DC).
DC is a rare genetic disease associated with the
development of aplastic anemia, myelodysplastic
syndrome, leukemia, and solid tumors [Alter, 2003].
Hematopoietic stem cell transplantation is a possibly
life-saving treatment option for patients with severe
hematologic involvement, and children under the
age of 18 may sometimes be considered to serve as
stem cell donors for affected siblings.
A 27-year-old woman with aplastic anemia due to
clinically-diagnosed DC enrolled with her family in
the NCI’s Inherited Bone Marrow Failure Syndrome
Study. Her father, uncle (monozygotic twin brother
of the father), and a paternal cousin also had clinical
evidence of DC, consistent with an autosomal
dominant inheritance pattern. Twenty-three rela-
tives, including the proband’s 13-year-old brother, all
participated in a natural history study in which family
members’ clinical and laboratory data were eva-
luated. When the 13-year-old joined the study, he
assented to the performance of research studies, but
explicitly requested not to learn the results of testing
for known germline mutations associated with DC.
This request had no immediate practical impact, as
his sister was found to lack mutations in any of the
known DC genes.
Approximately 11 months after the initial NCI visit,
the proband began considering a hematopoietic
stem cell transplant in consultation with the hemato-
logist who had been providing her clinical manage-
ment, from one of her four siblings, all of whom were
clinically normal. Prior to the family enrolling in
the NCI study, the hematologist established that three
of the proband’s four siblings were HLA-compatible,
including the 13-year-old. For reasons of HLA-match,
age, sex, and the absence of clinical signs or symp-
toms of DC, the hematologist told the family that the
proband’s 13-year old brother would be an ‘‘ideal’’
stem cell donor for his sister. Of the other matched
siblings, one was female (less optimal than a male),
and one was slightly older (age 20).
One of the many evaluations of the family
members on their initial NCI visit was a measurement
of telomere length in leukocyte subsets using flow-
FISH, an assessment considered part of the research
testing (to which the boy had assented) rather than
part of the study’s gene mutation testing [Alter
et al., 2007]. At this time, this test was neither part of
standard clinical practice nor available from a CLIA-
certified laboratory. However, preliminary evidence
that had accumulated in the NCI study since the
family’s initial visit suggested that abnormally short
telomeres might correlate with the presence of
mutations in as-yet-undiscovered DC genes and
may be associated with future development of
hematologic symptoms and/or cancer associated
with DC [Alter et al., 2007]. During the course of
research testing, the 13-year-old brother was found
to have abnormally short telomeres. Despite the
telomere test not being part of the genetic mutation
testing, the research team believed that the 13-year-
old’s prior request specifically not to learn the results
of mutation testing indicated a general preference
regarding any medical results relating to his future
likelihood of developing DC symptoms. Disclosing
the results of the telomere test might accordingly
violate his assumed wishes.
When the research team learned that the 13-year-
old was considering being a donor, based on
emerging reports of unsuccessful stem cell trans-
plants from donors with unrecognized, non-pene-
trant genetic disease, the research team strongly
believed that there was a genuine risk that the
13-year-old’s stem cells might not engraft, thus failing
to cure his sister’s aplastic anemia [Orfali et al., 1999;
Fogarty et al., 2003]. Accordingly, the team was
American Journal of Medical Genetics Part A
Page 2
uncertain about how to proceed. While the telomere
test results did not fall into the specific category of
results the boy had declined to learn, the team was
concerned that disclosure would still go against the
spirit of his expressed wishes. However, while the
boy had expressed a wish to not know ‘‘genetic
results,’’ he also assented to have clinical examina-
tions, including standard laboratory tests to look for
overt or occult evidence for DC when he agreed to
enroll in the study. In addition, further clarification of
the risk of DC would be in his interest because of
potential benefit from subsequent monitoring for
development of signs of DC. Furthermore, failure
to disclose and to prevent transplantation from the
13-year-old to the proband could possibly endanger
the health of the boy’s sister due to failure of
engraftment from an individual with short telomeres
[Fogarty et al., 2003]. The NCI team was thus
concerned as to whether it would be appropriate to
disclose the results of the research telomere testing to
the 13-year-old and his family, and contacted the NIH
Clinical Center Department of Clinical Bioethics
Consult Service.
Individual-Focused Analysis
Typically, the interests and preferences of an
individual primarily determine which action is ap-
propriate. This approach specifically focuses ethical
considerations on the direct effects to the individual
patient, considering these effects mostly in isolation
from his social and family setting. This is the standard
approach for clinical decisions involving genetic
testing in children. Many commentators have argued
that the risks of learning distressing health informa-
tion from genetic testing can best be justified by the
prospect of ‘‘direct benefit to the child’’ (italics
added) and with the assent of the child [American
Society of Human Genetics Board of Directors, 1995;
Nelson et al., 2001]. This analysis is ‘‘decontextual-
ized’’ because it focuses on the child alone and not
the child in the context of the family or social setting.
This decontextualized analysis would support not
informing the boy of his telomere results.
First, nondisclosure can be justified by the obliga-
tion to respect the adolescent’s autonomy. Informing
the boy of his telomere status, given his earlier
assertion that he did not wish to know the results of
‘‘genetic’’ tests, appears to violate at least the spirit of
his wishes, if not the letter. This lack of respect for
autonomous decisions is both a wrong in itself as
well as a potential harm in its aftermath, as it could
seriously weaken his relationship with the research
team. Although one could argue that, as a 13-year-
old, he is not legally capable of making autonomous
decisions, he had expressed strong desires about
what information he wished to know that ought to
carry some ethical weight [Santelli et al., 1995].
Second, nondisclosure can be justified by the
obligation to avoid the potential for causing the
adolescent unnecessary psychological harm. At any
age, learning from genetic testing that one has a
greater risk of disease can have significant negative
consequences, including psychological distress,
family discord, and stigmatization [Green and
Botkin, 2003]. Children may be at even greater risk,
as they are more likely to lack the emotional and
cognitive maturity to deal with unpleasant informa-
tion [American Society of Human Genetics Board of
Directors, 1995; Codori et al., 1996, 2003; Ross, 1996;
Packman et al., 1997; Michie et al., 2001; Nelson et al.,
2001]. Given these wrongs and harms associated with
disclosure, a decision in this case to disclose the
telomere test results to the boy would require some
counterbalancing justification.
While disclosure can sometimes lead to improved
and earlier treatment for diseases indicated by the
test results (a direct clinical benefit), this is not true
here. There is no known prophylactic treatment for
the risk of aplastic anemia in someone with DC
whose hematologic parameters are normal; close
monitoring for development of any DC symptoms
would take place whether or not disclosure occurs,
given the family’s medical history.
A further ethical consideration that might arise
regards the importance of analytic validity (accuracy
and reliability) of research tests and the legal issue
of CLIA certification for US laboratories who wish
to disclose ‘‘research findings.’’ In this case, the
results were not from a US laboratory, but the
laboratory used clinical protocols to ensure reliable
results. However, concerns about inadequate ana-
lytic validity would support non-disclosure.
If nondisclosure is the ethically appropriate
approach based on this framework, there remains
the issue that it would still not be clinically advisable
for the boy to be the donor. He had already been
informed that he would be the ideal donor in terms of
age, sex, and HLA match. A recommendation to not
use his stem cells would require some sort of
explanation. Should the research team satisfy the
obligation not to disclose by offering some sort of
‘‘creative alternative’’ explanation for their decision
not to use him as a donor? This would protect his
perceived wishes while also avoiding a potentially
unsuccessful transplant. Yet, deception cannot be
ethically justified, based on the same individual-
focused analysis of the adolescent’s interests and
preferences. Deception by the research team, if
revealed, would significantly weaken his relation-
ship with the research team. Even undiscovered, this
deception would leave the research team with
difficulty communicating openly with the adolescent
in the future [Capozzi and Rhodes, 2006]. From
the perspective of the individual’s interests, this is a
significant argument for avoiding such intentional
misinformation. For this reason, the research team
American Journal of Medical Genetics Part A
Page 3
rejected intentionally misleading the adolescent
and his family about why the research team was
concerned about him being a donor.
In summary, using the standard individual focus on
the individual patient’s interests and preferences,
there are significant ethical justifications for non-
disclosure of his risk as a donor, but also for not
deceiving him, which seemed necessary to avoid
using him as a donor. To accommodate both con-
cerns, it appears the best ethical alternative would
be to permit the boy to be the donor, without
disclosure of his suspected risk, even though it might
increase the risk to his sister.
Expanded Family-Focused Analysis
The individual focus does not consider the interests
of the individual in the context of their family. Ethical
decisions ought to incorporate some analysis of the
individual’s surrounding environment in order to
fully account for all the risks and benefits, both direct
and indirect, faced by a particular participant [Jonsen
et al., 2006]. This is particularly important when the
patient is a child and the decision will have significant
implications for his family. Many children have
strong emotional and social ties with their family
members, and their families tend to make up a
greater percentage of their social support networks
than do adults. Due to these connections, a large
part of a child’s psychological health relies on the
psychological well-being of family members as
well as the overall family unit. Accordingly, a child
may experience important psychological benefits/
harms as the result of a corresponding benefit/
harm bestowed on a family member [Gordon et al.,
This type of ‘‘reflected’’ benefit may occur con-
temporaneously, as when a relative is greatly
benefited by the result of a treatment that has little
or no direct benefit for the child patient himself. This
is true of the case study presented here: to the best of
the clinical research team’s estimation, the patient’s
sister would have the greatest chance of survival if
another sibling’s cells were used instead of the boy’s.
This decision would necessitate the disclosure of his
test results, but the potential benefit conferred on
the sister could result in important psychological
benefits to the boy himself by avoiding his loss
and his family’s loss of his sibling. Conversely, the
sister’s worsening health or death could confer an
indirect but significant psychological harm on the
In addition, in some cases, actions that set back an
individual family member’s personal interests in the
short-term may be justified if they promote the
health and robustness of the family. Though disclo-
sure of the test results may deviate from the boy’s
presumed preferences, the family as a whole may
be strengthened as a result of the sister’s improved
health. In the long-term, this family ideally would
protect and promote the good of all its members,
yielding less immediate but no less real benefits for
the boy whose preferences were initially overridden.
This is not to claim that the interests of family
members or the overall family should automatically
trump the interests of the individual patient, but
rather that consequences for family members should
be considered and factored into the overall risk/
benefit assessment.
This argument that the psychological benefits from
helping a family member justify the clinical harms to
siblings from the actual donation procedure has been
made by others, as long as the child has given assent
[Fost, 1977; Gordon et al., 1996]. This argument can
be when the potential harm arises from other aspects
of the donation process (i.e., disclosure of potentially
unwanted information) and there is no good way of
attaining a child’s assent to the possible harms. In this
case, while the adolescent expressed a preference
to not know his risk of future disease based on
‘‘genetic tests,’’ he was not asked this in the context of
choosing between this preference and helping his
sister. His decision for HLA testing indicated an
additional preference to help his sister. It is difficult,
in a post hoc fashion, to offer him the opportunity to
prioritize these conflicting preferences.
While this conclusion favoring disclosure based on
family considerations differs from the conclusion
reached by typical ethical analysis, the conclusion
that deceiving the adolescent is wrong does not
change. If the parents are told of the boy’s telomere
tests while the boy himself is offered a different
explanation, an element of secrecy is introduced to
the family that may weaken familial relationships.
If the deception is revealed, there is additional
potential for resentment and distrust. Even given
the expanded, contextualized conception of risks
and benefits, lying still poses an overall potential for
net harm to the patient.
Decisions and Challenges
Based on this analysis, the research team decided
to inform, in stepwise fashion, his mother and then
the boy (after the mother’s approval) of the results of
his telomere tests, and to recommend using another
sibling with normal-length telomeres as the donor.
The team acknowledged the importance of showing
respect for the boy’s preferences as well as the
potential psychological harms that could result from
learning unpleasant test results. However, the team
concluded that the harms that could accrue to the
boy because of the deception about the reasons for
his unsuitability as a donor, and/or if his sister’s
transplant was avoidably unsuccessful because he
was the donor, justified disclosure.
This was an ambiguous case, and it is possible that
weighing the various ethical, emotional, and social
American Journal of Medical Genetics Part A
Page 4
considerations differently could have yielded alter-
native conclusions in a different family. For example,
some teams might have considered deception to be a
more viable option. It could be reasonably argued
that the harms inherent in deception would be less
severe than both the psychological harms associated
with disclosure and the harms to family members.
The research team in this case made a judgment
against lying based on the expectation that an
attempted lie would likely be revealed, since many
of the significant harms attributed to lying occur only
if the lie is discovered.
Others might object to disclosure by arguing that
because the telomere test was not routinely used
clinically and the particular results were not obtained
from a clinically approved laboratory, the results
should not be considered in making clinical de-
cisions. Yet most clinical scenarios will involve at
least some degree of uncertainty. In these situations,
decision-makers must attempt to account for the
predicted risks and benefits including the fact
that the magnitudes of some risks may be mostly
unknown. In this case, despite lack of CLIA certi-
fication as evidence for analytic validity, the research
team had significant preliminary evidence about
clinical validity to suggest that harm might occur as a
result of a transplant from the 13-year-old. Further-
more, based on similar cases, the team strongly
believed that the harm to the sister had significant
potential to be severe and life-threatening [Orfali
et al., 1999; Fogarty et al., 2003]. All new clinical
innovations will at some point be at this early-but-
promising stage of development, and physicians and
researchers working with families must make clinical
recommendations based on their best educated
guesses in the absence of conclusive data.
In this case, the mother was contacted by phone
and told that there was some information from the
research study that might have implications about
who might be the most appropriate match. The
researchers met in person with the parent and all of
the siblings to explain the potential implications of
the telomere test and to offer each of them their
results. The 13-year-old indicated that he understood
that the interpretation of the research telomere test
was tentative, but would provide a probable
diagnosis of DC if the telomeres were short. The
mother and the 13-year-old decided together to
request the result, and they received them together.
He understood that his were short, and that he
should not be the transplant donor. He also under-
stood that he would need to be monitored for
possible future development of DC complications
(aplastic anemia, leukemia, and cancer). He never
discussed his earlier decision to opt out of ‘‘genetic’’
testing. Another sibling was the donor for the sister,
who is fully reconstituted 2 years after the transplant.
The teenage boy continues to have no physical or
hematologic signs of DC.
An individual-focused ethical analysis of the direct
benefits and harms may ignore important ethical
considerations that ought to factor into decisions.
The expanded family-focused ethical analysis, which
considers the risks and benefits that might accrue to a
person specifically in a wider family context, is better
suited to fully capture the full range of ethically
weighty considerations present. Ethical dilemmas
that arise regarding family genetic testing or family
related transplantation, for example, will often re-
quire decision-makers to consider the full scope of
benefits and harms that could befall participants or
patients. This analysis should include those reflected,
indirect, or long-term harms and benefits that could
occur as a result of consequences for family members
or for the family unit as a whole. While the case
described here involved difficult ethical balancing, it
illustrates the general importance of considering a
patient or participant’s interests by conceiving of him
as an individual embedded in an environment that
may significantly impact him.
The opinions expressed are the authors’ own. They
do not represent any position or policy of the
National Institutes of Health, Public Health Service,
or Department of Health and Human Services. This
work was completed as part of the authors’ official
duties as employees of the National Institutes of
Health. The authors have no financial conflicts
of interest with respect to this manuscript or its
contents. This research was supported in part by the
Intramural Research Program of the National Insti-
tutes of Health and the National Cancer Institute. We
thank Dr. Kurt Hirschhorn for his erudite discussion
at the NIH Ethics Grand Rounds, and Lisa Leathwood,
Ann Carr and the team at Westat, Inc. for their expert
organization of the study of this family.
Alter BP. 2003. Inherited bone marrow failure syndromes. In:
Nathan DG, Orkin SH, Look AT, Ginsburg D, editors. Nathan
and Oski’s hematology of infancy and childhood 6e.
Philadelphia: WB Saunders. p 280365.
Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB,
Willner JP, Peters JA, Giri N, Lansdorp PM. 2007. Very short
telomere length by flow FISH identifies patients with
Dyskeratosis Congenita. Blood 110:14391447.
American Society of Human Genetics Board of Directors,
American College of Medical Genetics Board of Directors.
1995. Points to consider: Ethical, legal, and psychosocial
implications of genetic testing in children and adolescents.
Am J Hum Genet 57:12331241.
Capozzi JD, Rhodes R. 2006. A family’s request for deception.
J Bone Joint Surg Am 88:906908.
Clemens KK, Thiessen-Philbrook H, Parikh CR, Yang RC, Karley
ML, Boudville N, Ramesh Prasad GV, Garg AX. 2006.
Psychosocial health of living kidney donors: A systematic
review. Am J Transplant 6:29652977.
American Journal of Medical Genetics Part A
Page 5
Codori AM, Petersen GM, Boyd PA, Brandt J, Giardiello FM.
1996. Genetic testing for cancer in children. Short-term
psychological effect. Arch Pediatr Adolesc Med 150:1131
Codori AM, Zawacki KL, Petersen GM, Miglioretti DL, Bacon A,
Trimbath JD, Booker SV, Picarello K, Giardiello FM. 2003.
Genetic testing for hereditary colorectal cancer in children:
Long-term psychological effects. Am J Med Genet Part A
Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E,
Zeng WS, Read EJ, Lansdorp PM, Young NS. 2003. Late
presentation of dyskeratosis congenita as apparently acquired
aplastic anaemia due to mutations in telomerase RNA. Lancet
Fost N. 1977. Children as renal donors. N Engl J Med 296:363367.
Gordon B, Prentice E, Reitemeier P. 1996. The use of normal
children as participants in research on therapy. IRB 18:58.
Green MJ, Botkin JR. 2003. ‘‘Genetic exceptionalism’’ in medicine:
Clarifying the differences between genetic and nongenetic
tests. Ann Intern Med 138:571575.
Jonsen AR, Siegler M, Winslade WJ. 2006. Clinical ethics: A
practical approach to ethical decisions in clinical medicine, 6e.
New York: McGraw Hill, Medical Pub Division. 227 p.
Michie S, Bobrow M, Marteau TM. 2001. Predictive genetic testing
in children and adults: A study of emotional impact. J Med
Genet 38:519526.
Nelson RM, Botkjin JR, Kodish ED, Levetown M, Truman JT,
Wilfond BS, Harrison CE, Kazura A, Krug E III, Schwartz PA,
Donovan GK, Fallat M, Porter IH, Steinberg D. 2001. Ethical
issues with genetic testing in pediatrics. Pediatrics 107:1451
Orfali KA, Wynn RF, Stevens RF, Chopra R, Ball SE. 1999.
Failure of red cell production following allogeneic BMT
for Diamond Blackfan Anemia (DBA) illustrates functional
significance of high erythrocyte adenosine deaminase (eADA)
activity in the donor (abstract). Blood 94:414a.
Packman WL, Crittenden MR, Schaeffer E, Bongar B, Fischer JB,
Cowan MJ. 1997. Psychosocial consequences of bone marrow
transplantation in donor and nondonor siblings. J Dev Behav
Pediatr 18:244253.
Ross LF. 1996. Disclosing misattributed paternity. Bioethics
Santelli JS, Rosenfeld WD, DuRant RH, Dubler N, Morreale M,
English A, Rogers AS. 1995. Guidelines for adolescent health
research: A position paper of the society for adolescent
medicine. J Adolesc Health 17:270276.
American Journal of Medical Genetics Part A
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    • "This consent includes " the decision in regard to the scope of the given genetic examination as well as regarding the decisions if, and if so to which extent, the examination results may be disclosed or, as the case may be, destroyed " 3 ; however, genetic information is inherited and thus shared within a family. The decision to obtain genetic information may therefore potentially impact other family members (Burnett et al. 2007; Denny et al. 2008). This is, for example, the case, if a young adult conducts a predictive genetic test for Huntington disease which had been found in a grandparent; a positive test result implies the knowledge that the parent must also be a carrier, even if he or she declined undergoing the genetic test. "
    [Show abstract] [Hide abstract] ABSTRACT: The use of predictive genetic tests is expanding rapidly. Given limited health care budgets and few national coverage decisions specifically for genetic tests, evidence of benefits and harms is a key requirement in decision making; however, assessing the benefits and harms of genetic tests raises a number of challenging issues. Frequently, evidence of medical benefits and harms is limited due to practical and ethical limitations of conducting meaningful clinical trials. Also, clinical endpoints frequently do not capture the benefit appropriately because the main purpose of many genetic tests is personal utility of knowing the test results, and costs of the tests and counseling can be insufficient indicators of the total costs of care. This study provides an overview of points to consider for the assessment of benefits and harms from genetic tests in an ethically and economically reflected manner. We discuss whether genetic tests are sufficiently exceptional to warrant exceptional methods for assessment and appraisal.
    Full-text · Article · Dec 2010 · Journal of community genetics
    • "The sibling was found to have very short telomeres prior to the discovery of the TINF2 gene mutation [12]. The presence of very short telomeres in this potential donor was the basis of our recommendation that he not be used as the donor [51]. Another HLA-matched sibling with normal telomeres was successfully used as the donor and was subsequently shown not to have a TINF2 mutation (which was found in the proband after the transplant). "
    [Show abstract] [Hide abstract] ABSTRACT: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.
    Full-text · Article · May 2009 · Hematology/oncology clinics of North America
  • No preview · Article · Nov 2008 · American Journal of Medical Genetics Part A
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