Journal of Pediatric Psychology, Vol. 28, No. 2, 2003, pp. 135-145
© 2003 Society of Pediatric Psychology
Pediatric Psychology Training and Genetics: What Will Twenty-First-Century Pediatric Psychologists Need to Know?
Dana-Farber Cancer Institute, Children's Hospital of Boston, and Harvard Medical School
All correspondence should be sent to Andrea Farkas Patenaude, Dana-Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts 02115. E-mail: andrea_patenaude{at}dfci.harvard.edu.
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Abstract |
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 Top Abstract IntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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Objective To demonstrate the importance of genetic knowledge in coming decades and to outline necessary areas of genetic education. Method This article reviews research involving genetic testing of children for cancer syndromes, development disabilities, psychiatric problems, and other conditions. Results The developmental, clinical, research, and consultation skills of well-trained pediatric psychologists will make them valuable collaborators with genetics professionals. Pediatric psychologists study the genetic etiology of psychiatric conditions and outcomes of genetic testing for physical disease. Conclusions Pediatric psychologists will need training in the concepts and methods of the New Genetics. They should understand the implications of risk notification and genetic test disclosure and should be aware of related ethical concerns.
Key words: genetic testing; hereditary cancer syndromes; psychiatric genetics.
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Introduction |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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This article is directed at those responsible for the training of twenty-first-century pediatric psychologists. It briefly reviews current genetic knowledge as it relates to physical and psychiatric diseases of childhood and describes the roles of pediatric psychologists in the clinical care of patients with genetic concerns. It outlines some of the research questions regarding inherited disease predisposition and related ethical issues and provides an overview of the training in genetic concepts, methodologies, and outcomes that pediatric psychologists will need to meet clinical and research challenges.
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Genetic Testing of Children |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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Clinical Roles on Genetics Teams Assessing Genetic Predisposition for Physical Illness
Geneticists, genetic counselors, nurses, specialty physicians (e.g., developmental pediatricians, oncologists, neurologists), psychologists, and other mental health professionals all make important contributions in helping children and families cope with genetic disease. There is often some overlap in roles between members of different professions represented on a genetics team, with geneticists, genetic counselors, and nurses offering information about the inheritance patterns, risk estimates, and options for prevention and several team members providing psychological support. However, some roles are typically assumed by clinical psychologists. Psychologists working in pediatric settings may provide the team with developmental assessment of the child's cognitive understanding of the role genetics plays in the etiology of the condition that runs in his or her family. Psychologists typically assess psychological readiness for genetic testing and can judge the emotional value of genetic information to parents and children. Pediatric psychologists assist genetics professionals in the preparation of age-appropriate materials for use with children of different ages to describe relevant inheritance issues and options. Psychologists may help children and parents cope with the results of genetic testing and may aid in family dissemination of genetic information and related emotional concerns. They may help children reevaluate the meaning of their genetic risk when the findings acquire particular saliency because of developmental changes. Psychologists may also advise the genetics team on ways to improve their approach to patients or their follow-up procedures or may make recommendations concerning issues relevant to subgroups of patients, such as patients with developmental delays.
Cancer as a Model
Cancer is the first major disease for which genetic testing is available
for the detection of inherited illness predisposition among members of some
high-risk groups or families. Most genetic cancer testing has been conducted
in adults for malignancies typically diagnosed in adulthood. The most common
types of genetic cancer testing currently performed are for BRCA1 or
BRCA2 genes that predispose to breast or ovarian cancer or testing
for the several genes that predispose carriers to colon cancer. Professional
medical organizations have issued guidelines suggesting that children not
undergo genetic testing for adult-onset disorders unless treatment in
childhood would substantially affect the outcome of the serious adult disorder
(American Medical Association,
1995
; American Society of Human
Genetics/American College of Medical Genetics, Statement on Children,
1995), and most professionals concur. However, several pediatric
conditions involve disposition to pediatric cancers for which genetic testing
is available and is, in some cases, considered standard patient care.
Discussion of these conditions provides a template for raising general
questions about the genetic testing of children.
Li-Fraumeni Syndrome and p53 Genetic Testing. Li-Fraumeni
syndrome (LFS) is a rare cancer syndrome traceable to disorders in a single
gene, p53. The p53 gene is autosomal dominant; thus, each
child has a 50% chance of inheriting the deleterious mutation. LFS family
members who are mutation carriers have a 40% chance of developing cancer by
age 20 (Williams & Strong,
1985), far above the population risk of malignancy in childhood.
In addition, the cancers that develop in LFS tend to develop earlier. Second
primary malignancies are common, and third and even fourth malignancies in the
same person have been reported (Hisada,
Garber, Fung, Fraumeni, & Li, 1998). Families are often
devastated by cancer in multiple generations, and multiple cases of rare
pediatric cancers can occur in the same nuclear family. Members of LFS cancer
families often report anxiety originating in childhood about the patterns of
cancer in their family. Unfortunately, there are no appropriate screening
mechanisms for most of the target cancers (sarcomas, breast cancer, brain
tumors, bone cancers, adrenocortical carcinomas). Hence, the direct benefits
of genetic testing of adults or children are limited to (1) allowing for the
recognition of the 50% of family members who are not carriers and, thus, not
at increased risk for cancer; (2) alerting parents, patients, and physicians
to the high likelihood of cancer in even quite young individuals who are
mutation carriers and enouraging early investigation of symptoms; and (3)
providing clarity for patients and parents about whether children are mutation
carriers. Because of the limits of direct medical benefit, there has so far
been little genetic testing of unaffected children in LFS families. However,
in cases where children are diagnosed with target cancers and the family
history involves or is suspicious for LFS, testing is likely.
Multiple Endocrine Neoplasia 2: Cancer Curable With the Help of
Genetic Testing. Multiple endocrine neoplasia 2 (MEN2) is a cancer
syndrome marked by early development of medullary thyroid cancer, as well as
several other conditions. Genetic testing is the standard of care currently in
children whose parent has MEN2 due to a mutation in the RET gene
(Johnston et al., 2000). MEN2
is the rare case where identification of a genetic mutation is usually quickly
followed by a targeted treatment. Surgical removal of the thyroid gland is
recommended before age 5 (and even earlier by some experts) in mutation
carriers to prevent metastasis and to reduce potentially fatal outcomes
(van Heurn et al., 1999).
Testing allows the 50% of children found not to be RET mutation
carriers to be spared the recurrent biochemical testing recommended for all
children from families with hereditary MEN2
(Gagel et al., 1995).
Several studies of the reactions of children, adolescents, and adults to
MEN2 genetic testing reveal generally normal levels of postdisclosure distress
(Grosfeld, Beemer, Lips, Hendriks, &
ten Kroode, 2000; Michie,
Bobrow, & Marteau, 2001), although, in one Dutch study, the
15- to 20-year-old patients had scores above population levels. Parents of 27%
of the children testing negative in that study wished to continue calcitonin
testing (Grosfeld, Beemer, et al.,
2000).
Familial Adenomatous Polyposis. Familial adenomatous polyposis (FAP) is also a condition for which genetic testing prevents unnecessary medical screening for children who are not mutation carriers. Children in FAP families usually have colonoscopies beginning around age 10 to detect the presence of precancerous polyps, which occur in great abundance in individuals with FAP (Neugut, Jacobson, & DeVivo, 1993). If not removed, these polyps can lead to colon cancer. Surgery occurs as early as the midteens in many families. Genetic testing for mutations in the APC gene that conveys predisposition to FAP are likely to be negative in half of the cases. Thus, 50% of children in families at risk for FAP who might have had a childhood marked by recurrent, unpleasant medical tests, overlaid with repeated parental anxiety about the test results, may be spared these potentially traumatic experiences if they do not carry the familial APC mutation. This represents a significant psychological and economic consideration. Such testing comes, however, as part of a gamble with fate, which includes the possibility of finding that the child is a mutation carrier. Carriers can be monitored carefully and have timely surgery.
A 3-month follow-up study of 41 children tested for APC showed
that, regardless of their genetic status, the children overall remained within
normal limits of psychological distress
(Codori, Petersen, Boyd, Brandt, &
Giardiello, 1996). However, subclinical increases in distress were
noted, depending on the child's genetic status and the health status of the
same-sex parent. Mutation-positive children with mothers who also had FAP had
significantly higher depression scores, and both mutation-positive and
mutation-negative children had higher anxiety scores if their mother was
affected (vs. having an affected father). Unaffected parents of both
mutation-negative and -positive children had increased depression scores at 3
months.
Prevention. Genetics is likely to enhance our understanding
of what enables some people to avoid health risks and what drives others
toward risky behaviors. Research is ongoing on genetic factors related to the
age at which individuals start smoking and their later success in giving it up
(Lerman et al., 2001). Such
research has broad implications for the development of targeted interventions
to teens at highest risk of smoking and lowest levels of ability to control
their smoking behavior, once initiated. If some young people have a relatively
low genetic risk of developing cancer due to smoking, they may be encouraged
to take up smoking, with other negative health consequences. Psychologists
have much to offer in the framing of genetic health risk information to
teenagers.
Summary. Many questions arise about the impact of early
genetic testing on the identity development and self-esteem of children in
high-risk cancer families. Research in this field is needed to understand how
children react to early knowledge of hereditary risk for a variety of
conditions. Long-term follow-up of larger samples of children tested for
p53, APC, and RET and their family members is
warranted. Defining the emotional reactions to genetic identification of
at-risk children in families with hereditary cancer syndromes is a complex
process. I have discussed relatively rare cancer syndromes attributable to
alterations in single genes. In the future, hereditary contributions to more
common pediatric cancers, like leukemia, probably involving multiple genes,
will be found. Parents may be confused about the etiology of their child's
disease, may misunderstand requests to have their child's blood drawn for
genetic studies, or be confused about the nature of testing to which they
offered their consent. Almost a third of parents of children tested for the
RET gene for MEN2 believed that the test would determine if their child had
the disease rather than assessing genetic predisposition
(Grosfeld, Lips, et al.,
2000). Parental anxiety about the etiology of a child's disease
could also lead to requests for unnecessary and uninformative genetic testing.
About half of mothers of pediatric oncology patients questioned said they
would have their child undergo genetic testing if a test were available, even
if there were no direct benefit to the child
(Patenaude et al., 1996).
Pediatric psychologists in oncology settings will need to keep abreast of
rapidly changing knowledge in pediatric cancer genetics. Their research will
aid genetics professionals in clearly informing parents about the nature,
risk, and benefits of genetic testing.
Nonmalignant Genetic Diseases of Childhood
Of course, many other genes for pediatric-onset conditions, such as those
for cystic fibrosis (CF), diabetes, and asthma, have been, or will be, found
in the coming decade. The discovery of the cystic fibrosis gene in 1989 led to
current consideration of population screening for the 1 in 25 individuals who
are CF carriers (Grody & Desnick,
2001). However, identification through genetic testing of an
individual carrier of a serious illness may itself have psychological effects
(Fanos, 1997;
Zeesman, Clow, Cartier, & Scriver,
1984). A follow-up study of adults who were CF carriers showed
that, 3 years after testing, the carriers described themselves as
significantly less healthy than non-carriers, despite the lack of any actual
physical effects on CF carriers (Axworthy,
Brock, Bobrow, & Marteau, 1996). These reports and others
(Michie & Marteau, 1996)
suggest that children, adolescents, and adults attach different meanings to
knowledge of genetic risk.
Developmental Disabilities and the New Genetics
Advances in genetics enable more accurate and earlier molecular diagnosis
of children with symptoms or family histories suggestive of developmental
syndromes. New genetic technology led to surprising findings of non-Mendelian
mechanisms underlying Prader-Willi syndrome (PWS) and Angelman syndrome. About
30% of PWS cases reveal imprinting, an unusual instance where the expression
of a genetic condition differs depending on the sex of the parent from whom
the altered chromosome is inherited (Muir,
2000). Subtle phenotypic differences have been found in
birthweight, facial features, coloring, and age of onset depending on the mode
of inheritance. Like PWS, some cases of Angelman syndrome are also due to
uniparental disomy. Further study of phenotype-genotype correlations and
molecular findings in these two disorders may shed light not only on their
etiology but also on etiologic mechanisms for associated conditions, such as
the psychosis in 5% of PWS adults and the severe epilepsy in some cases of
Angelman syndrome with specific genetic deletions
(Muir, 2000). Pediatric
psychologists working with such cases need to know diagnostic and treatment
implications of the genetic variants.
Similarly, in Fragile X syndrome (FXS), the most common form of inherited
mental retardation, the discovery of the FMR-1 gene for Fragile X
gene in 1991 (Verkerk et al.,
1991) vastly improved the ability to diagnose the condition in
nonsymptomatic women and male carriers. DNA testing is now the accepted
diagnostic test for Fragile X syndrome. Fragile X mutation carriers have
genetic repeats in the FMR-1 gene, which are many times greater than
those in noncarriers. Further genetic research will attempt to elucidate the
links between autistic-like features of some (especially male) FXS patients
and findings of premature ovarian failure in mutation carriers who are
otherwise asymptomatic (Bardoni, Mandel,
& Fisch, 2000). Genetic testing for one condition may reveal
unwanted information about a related predisposition to another condition.
Major Research Questions: Genetics of Physical Illness
- How will children's self-esteem, ambition, optimism, and general emotional
well-being be affected by knowledge that they carry a disease-predisposing
mutation?
- How will families change because of testing of children and adult family
members? Areas of interest include emotional impact of knowledge of carrier
status, reproductive decision making, possible differential allocation of
emotional and financial resources depending on genetic status, blame and
guilt, and relationship to extended family members.
- How do children of different ages and family histories understand genetic
concepts?
- What are the methods and timing for optimal communication with children and
adolescents about genetic information?
- What are the cultural influences on cognitive understanding and acceptance
of genetic medicine among families of diverse ethnic origins?
- How will knowledge of genetic predisposition affect adoption or avoidance
of health behaviors? Are there interventions to aid children and adolescents
at increased hereditary risk of disease in the acceptance of screening
interventions that could be life-saving?
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Genetics of Psychiatric Disease |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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A full review of current knowledge of psychiatric genetics with relevance to pediatrics is beyond the scope of this article. Readers are directed to the extensive review of the pediatric psychiatric-genetics literature by Rutter, Silberg, O'Connor, and Simonoff (1999b
). I will, however,
attempt to identify roles for pediatric psychologists associated with the
growth of research in behavioral genetics.
Psychiatric genetic epidemiology has, through twin, adoptee, and family
studies, led to many interesting and valuable observations about likely
genetic factors in the etiology of affective disorders
(Beardslee, Keller, Lavori, Staley, &
Sacks, 1993), schizophrenia
(Moldin & Gottesman,
1997), autism (Bailey,
Phillips, & Rutter, 1996), attention deficit/hyperactivity
disorder (Biederman et al.,
1992), substance abuse (Reed,
Page, Viken, & Christian, 1996), antisocial behavior
(Farrington, Barnes, & Lambert,
1996), and neurofibromatosis
(MacCollin, Gutmann, Korf, &
Finkelstein, 2001), which have changed our thinking about the role
of nature and nurture in psychiatric illness. Thirty years ago, there was
little recognition of genetic factors in schizophrenia, for example, but now
it is clear that it and many other psychiatric conditions are multifactorial
in etiology, requiring both genetic vulnerability and environmental triggers
(Farone, Tsuang, & Tsuang,
1999).
There were some false starts in psychiatric genetics with early findings of
genetic links that were not replicated
(Robertson, 1989). Attempts to
locate candidate genes have been largely unsuccessful
(Owen & Cardno, 1999).
However, considerable excitement remains about the promise of genetic studies
(Evans, Muir, Blackwood, & Porteous,
2001). Genetic findings should lead to break-throughs in our
understanding of the etiology of psychiatric disease and to new approaches to
treatment.
The definition of the disease state in psychiatric disorders is based on observation of behaviors rather than on biochemical or other direct measures of physical status. Thus, the ability to accurately define and consistently recognize which participants meet the established phenotypic criteria is essential for rigorous, reliable research. Pediatric psychologists familiar with the manifestations of behavioral and psychiatric conditions can help define these criteria and maintain consistency of observations.
Pharmacogenetics. Pharmacogenetics refers to the growing
body of knowledge indicating that individuals vary in sensitivity to adverse
side effects of medications due to genetic differences
(Wolf & Smith, 1999). This
revolution in the way medicines are prescribed has tremendous economic,
medical, and social ramifications. The hope is that adverse side effects of
psychotropic medications could be reduced and positive effects optimized
through individualization of prescribed doses, based on genetic testing.
However, there also are concerns about whether the testing of customized,
pharmacogenetic approaches may result in under- or overdosing of children
(Kearns, 1995). Informed
consent, the balance of risk and benefit, and confidentiality issues about the
information generated by phenotype testing for pharmacogenetic purposes also
concern ethicists and researchers (Issa,
2000). Pediatric psychologists will need to be aware of special
issues concerning pharmacogenetic approaches to the treatment of pediatric
behavior disorders and psychiatric illness.
Clinical Roles for Pediatric Psychologists in Psychiatric
Genetics. As knowledge about genetic factors grows, more people with
family histories of psychiatric disorders will seek genetic counseling and
associated psychological services to understand possible hereditary risks to
themselves and their children. However, genetic testing or specific,
genetically based interventions will not be available for some years
(Welch & Burke, 1998).
This may be difficult for many desperate parents or patients to
understand.
Research into the molecular basis for many psychiatric and behavioral conditions promises to lead to genotypic diagnostic groupings that will allow for objective and definitive diagnosis. This specificity will, in turn, enhance the development of targeted treatments and interventions. The finding of genetic effects, however, is not consonant with understanding the cause of the condition. As Rutter (1999a) notes, "The road from gene localization (or even identification) to an understanding of causal mechanisms is likely to prove a long and arduous one, especially in the case of multi-factorial disorders" (p. 18). With both genetic and environmental risks it is essential to move beyond the quantification of each to the study of which genes and which environmental factors provide the risk and how they operate" (p. 12).
Careful observation and clinical ability, however, will continue to be central factors in the success of any psychological treatment. Flexible thinking, as well as knowledge of patterns of genetic comorbidity, will be useful in determining which questions to ask in taking a family history to ascertain hereditary links. When a genetic vulnerability is established, pediatric psychologists can help children and adults find a balance between the helplessness of genetic determinism and the self-blame caused by belief in purely environmental causes for children's psychiatric illness. In psychotherapy, confusion and anger about the unfairness of inherited vulnerabilities to psychiatric disease may be addressed. Psychologists may help parents and children understand why genetic investigation of sensitivity to psychotropic medication may be helpful in optimizing and personalizing prescription recommendations.
Major Research Goals: Psychiatric Illness
Researchers should address the following goals:
- Isolation of the molecular genetic features that predispose to the major
psychiatric conditions with strong family patterns of transmission;
- Improvement in our understanding of mechanisms underlying genetic
heterogeneity;
- Improvement in our understanding of whether intermediate phenotypes (like
schizo-affective disorder) represent a continuum of phenotypic manifestation
of similar underlying genetic mechanisms;
- Improved understanding of the ways in which environmental factors trigger
(or fail to trigger) genetic predisposition to mental illness and behavioral
conditions;
- Communication of complex genetic information about risk for psychiatric
disease to affected families and research on the outcomes of risk
notification; and
- Acceptability of pharmacogenetic targeting of treatment for psychiatric
illness.
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Impact of Parental Testing on Children and Family Communication |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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Although much has been written concerning the potential effects of genetic testing of family members on children (Clarke, 1998
;
Wertz, Fanos, & Reilly,
1994), little empiric research to date addresses children's
involvement in or reaction to genetic testing of their parent or other
relative. Researchers have been reluctant to directly approach children of
tested adults, both because of confidentiality and because of the research
complexities in assessing and comparing how children of varying ages
understand genetic testing. However, studies are beginning to emerge in this
area. Geller, Tambor, Bernhardt, Wissow, and Fraser
(2000) interviewed 10- to
17-year-old daughters of mothers with breast cancer from high-risk breast
cancer families about whether the daughters would want to be genetically
tested themselves. The daughters initially could not see any reasons not to be
tested, but with time and additional information, they understood more about
the risks and benefits of testing, suggesting a strong need for counseling of
teenagers deciding about testing. Hamman et al. (2000) conducted telephone
interviews of 104 women and men with children under age 18 who had been tested
for mutations in their BRCA1 gene regarding their beliefs about whether minor
children should be tested for BRCA1. Seventeen percent reported that they
would want to test their own children, whereas 83% did not want their children
tested as minors. Tercyak et al.
(2001) asked 133 parents who
had been tested for BRCA1/2 mutations and who had children under age
18 about their decisions to tell or not tell their child(ren) their test
result 1 month after disclosure. Mothers were nearly evenly split, but 71% of
the fathers did not disclose their result. Mothers and parents who had high
baseline levels of distress were more likely to tell their children their
result. Prior cancer history, carriers' status, and age of the child did not
predict disclosure patterns. In a related study, investigators found that
disclosure to a minor child of a parent's BRCA1/2 test result was
inversely associated with parental education level, suggesting that greater
knowledge about the ethical dilemmas and social stigma pertaining to genetic
predisposition is associated with more hesitation about sharing results with
children (Lerman et al.,
1998). Data on the role parental anxiety and other factors play in
decisions about sharing genetic information will be critically important as
more disease genes are cloned and genetic testing programs instituted.
Cultural differences also are likely to influence family communication
about genetics. There are, as yet, no studies of differences by ethnicity or
culture of how genetic information is shared with children. However, Hughes
(1997) found that African
American women revealed their breast cancer genetic testing result to their
spouse and parents 27% of the time, whereas Caucasian women informed their
spouse 66% of the time and their parents 40% of the time.
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Ethical and Social Issues |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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Much concern about the testing of children revolves around finding a balance between utilizing genetic technologies to reduce morbidity and mortality of disease for children and protecting them from harm. Ethical issues about the genetic testing of children include autonomy, consent, confidentiality, and avoidance of discrimination.
Autonomy
Testing in childhood precludes the option not to know one's genetic status,
a choice made by a significant number of adults offered genetic testing for
cancer genes and Huntington's disease. Some experts, however, believe that
teenagers are capable of making such decisions and that respecting the
autonomy of their decisions about genetic testing avoids paternalism and is in
their best interest (Elger & Harding,
2000). Others believe that when medical benefit is not imminent,
it is preferable for the individual to defer decision making about genetic
testing until adulthood (Clarke &
Flinter, 1996; Collins,
1996). Views of what constitutes "medical benefit" in
childhood are, of course, variable.
Informed Consent
Parents must provide consent for the genetic testing of their children.
There is much need for research on the motivations for surrogate decision
making regarding genetic testing of children for physical and psychiatric
illness. Some parents of children with cancer have indicated greater
willingness to test their minor, healthy children for inherited risk of cancer
than to be tested themselves (Patenaude et
al., 1996). Whose task is it to inform children about their
hereditary risk? What "duty to warn" considerations apply for the
provision of genetic risk information to previously tested, but uninformed,
children when they reach legal maturity
(Clayton, 1998)?
Confidentiality
Confidentiality about genetic matters is a complex issue for individuals of
all ages. There is substantial variation between states in the kinds of legal
protection offered. The rights of third-party payers, health providers,
employers, and patients are difficult to balance, and it is not clear what
path best protects the patient's health and who needs to have access to a
child's genetic information. For example, should information about a child's
genetic risk for disease be routinely shared with pediatricians, schools,
camps, or teachers?
Difficult ethical questions arise about the use of genetic testing in
adoption. Concern has been raised about whether genetically testing a
potentially adoptable child objectifies the child
(Freundlich, 1998), while also
precluding the right to make later decisions about testing. In some cases,
genetic testing could show that a child is not a carrier of a
deleterious mutation known to exist in his or her biological family, which
might increase the child's chance for adoption. Alternatively, testing could
make clear that the child is at increased risk for the condition, possibly
foreclosing many options for adoption. There is no clear policy yet about the
genetic testing of preadoptive children and about the conditions under which
genetic testing should be undertaken to satisfy potential adoptive parents'
questions.
Discrimination
Given the eventual needs of many mutation carriers for expensive medical
care, it is worrisome that children might be genetically tested for
adult-onset conditions when they do not have health insurance that can be
carried into adulthood (Wertz et al.,
1994). Identification of children's genetic status could limit
their options to acquire reasonably priced health insurance as adults and
could also result in employment-related discrimination.
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What Pediatric Psychologists Need to Know About Genetics |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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To function optimally in clinical or research roles, especially (but not only) when working as part of genetics teams, psychologists need to refresh their knowledge of basic genetic terms and concepts and to receive updated teaching about the impact of modern genetic technology on their particular areas of inquiry or practice (Jenkins et al., 2001
). Such training may occur in continuing education
courses; in multidisciplinary, disease-specific training workshops; and,
ultimately, in graduate school curricula.
Conceptual Knowledge
While the extent and specific nature of the genetics training needed by
pediatric psychologists will vary depending on their area of specialization,
pediatric psychologists should be trained in three basic aspects of genetic
knowledge: (1) an updating of their conceptual understanding of genetics,
including some knowledge of methods for advancing genetic knowledge; (2)
education about the advantages and limitations of different approaches to
evaluating the role of heredity and environment in human behavior and illness;
and (3) awareness of potential individual, familial, and societal
ramifications of genetic testing.
The genetics of Mendel familiar to most educated individuals emphasized single-gene conditions with strict phenotype—genotype concordance. Discussion of the "gene for blue eyes" suggests a 1:1 relationship between a single gene and a physical characteristic. But much of the New Genetics concerns more complex situations where multiple genes (gene-gene interactions) and gene-environment interactions together produce the phenotypic characteristic or behavior. This vision enlarges the scope of genetic studies enormously, but complicates it to a similar degree. At least some awareness of techniques for studying genetic effects and localizing genes within chromosomes, like fluorescent in situ hybridization techniques or "knockout genes," is needed to understand how genetic knowledge grows. Genetic fluency will include familiarity with the concepts of multifactorial interactions, understanding the challenge of finding appropriate ways to measure differential genetic and environmental effects, and recognition of terms like "expanding trinucleotide repeats," "imprinting," and "penetrance" as genetic characteristics influencing disease presentation.
Advantages/Limitations of Methods of Evaluating Genetic and
Environmental Effects
Understanding terminology and genetic methodology is a necessary tool for
in-depth evaluation of research studies illustrating genetic or environmental
effects. This is an extremely complex area. Rutter et al.
(1999a) review the intrinsic
biases in twin and adoptee studies of psychiatric disorders, as well as the
benefits, limitations, and biases of affected relative linkage designs and
association strategies, new approaches in genetic research on psychiatric
illness. Rutter et al. (1999a)
also point out that until better techniques are developed, negative results
still leave the presence of an association open to question.
Individual, Familial, and Social Implications of Genetic Risk
Notification, Counseling, and Testing
Finally, genetic education must include awareness of how the availability
of genetic risk information changes individuals' views of themselves, their
families, and society. Knowledge of research findings on short- and long-term
outcomes of risk notification and genetic testing will be essential. Emerging
studies suggest complexity of response and a need to evaluate individual
outcomes in a family context (Smith, West,
Croyle, & Botkin, 1999). Data on the impact of genetic risk
notification on children's health, anxiety, somatization, and goal setting
will be helpful in designing future interventions. Regular revisiting of the
ethical literature will be required to stay abreast of changing local and
federal statutes on genetic privacy and professional recommendations about
confidentiality of personal genetic information of relevance to other family
members.
Genetic Resources
The training of pediatric psychologists should involve guidance about
sources for the necessary updating of genetic information and for locating
appropriate referral sources for patients and research participants with
genetic concerns.
Finding networks of genetics professionals trained in the delivery of specialized genetic services (e.g., cancer or psychiatric genetics) and developing liaisons with local members of that network can help pediatric psychologists make appropriate referrals. Pediatric psychologists also will find genetics professionals to be helpful colleagues who are knowledgeable about the implications of identification of new genes and important mutations, and who can provide information about the relevance of genetic findings to specific patients. In turn, because most genetic counselors have little direct experience working with children, pediatric psychologists can provide useful advice on approaches to teaching children and parents about genetics and on ways to optimize family communication about genetic issues.
Because genetic knowledge is changing rapidly, re-education about genetics
will require periodic updating to remain current. Hence, knowledge of useful
resources is crucial, both for the pediatric psychologist and for helping
affected families find updated information sources. Resources for both basic
and specific genetic information are increasing exponentially. Some useful
current resources include Internet access to a glossary of genetic terms
offered by the National Human Genome Research Institute at
www.nhgri.nih.gov.DIR/VIP/Glossary/pub_glossary.cgi.
Specific disease information is also available through government agencies
such as, the Centers for Disease Control and Prevention (online at
www.cdc.gov/genomics/default.htm)
and disease organizations (such as, Genetic Alliance online at
www.geneticalliance.org).
The National Cancer Institute maintains an updated summary of cancer genetic
research findings, including related psychosocial research at
www.cancernet.org.
GeneClinics
(www.geneclinics.org)
offer an online, peer-reviewed genetics textbook and information about genetic
counseling. The American Medical Association Web site offers a great deal of
genetic information, much of it pertaining to children
(www.ama-assn.org/ama/pub/category/1799.html).
There is also a growing reference library of books that offer information on
genetic issues relevant to the pediatric psychologist (see
Clarke & Flinter, 1996;
Faraone et al., 1999; Offit,
1998; Marteau & Richards,
1996).
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Discussion |
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TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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Well-trained pediatric psychologists will offer essential clinical services to children and parents with concerns about genetic disease predisposition and will conduct research in this new field. The impact of genetic testing on children's self-esteem, identity, health behaviors, emotions, and outlook needs to be explored. Research that can separate the effects of parental illness, cognitive level, coping style, gender of child and parent, parental distress, social support, cultural factors, and the impact of test results of other relatives will be needed. These data can be used to set policy about the genetic testing of children. Pediatric psychologists can help us understand what children want to know about inherited disease and how best to convey that information. Children's phobias or separation fears about their own or other relatives' future health may increase. Parental advice not to widely discuss family genetic information may be misinterpreted by children and arouse feelings of isolation or deficit. Pediatric psychologists will need a basic understanding of the genetic issues within families to help parents and children facing these issues.
In some cases, it may be as important to help children and families understand that a medical or psychiatric condition is not likely to be due to genetic factors. Because of widespread news coverage about genetic advances in medicine, many parents will voice concern about whether their child's condition is due to inherited factors and if future generations will be affected. Children are also learning a good deal about genetics at earlier ages, due to increased educational efforts related to the Human Genome Project. When a disease occurs in a family, children wonder about their own hereditary risks. Because early genetic advances have tended to involve single-gene disorders, this is the model many will be using. When that is the relevant model, children may need information about particular risks involved, age of onset, and preventive or screening measures. When that is not the appropriate model, children and adults may need help in understanding how genes work together or with environmental factors in leading to disease. Such discussion may be helpful in reducing fatalistic thinking about illness.
It will also be important to help children and adults understand the changing nature of genetic information. Even in relatively well-studied genetics fields, much remains unknown, and even when knowledge is fairly advanced about the genetic contribution to a disease state, the impact on treatment or prevention efforts often is minimal for a long time. Psychologists in pediatric subspeciality areas who know when there is reputable genetic evidence to suggest specific diagnostic or prognostic information or treatment direction and when there is not will help families make informed decisions about the use of genetic technologies. Keeping up with the literature about genetic contributions to the conditions that affect the children and families in one's practice or research area will be an essential part of being a well-informed professional in the twenty-first century. Possessing such knowledge will allow one to be a resource for patients and families, for professional colleagues, and for those seeking to make policy concerning the use of genetic technology. Knowledge of the psychological vulnerability of children of different ages or in different situations will be important to share with those who actually make the laws that govern genetic technology.
Psychological factors are central in understanding how at-risk individuals perceive and utilize genetic information. The research skills of pediatric psychologists will be essential in designing clinical and research paradigms and interventions that capture the critical elements of emotional and health—behavioral impact of genetic information on family systems.
The development of good clinical and research skills will be, as always, the keystone in the arch of unique professional contributions pediatric psychologists have to offer. We need to complement the development of these skills with training in genetics to help pediatric psychologists understand the importance of this new frontier in medicine and the intrinsic research challenges it offers. The answers to the many dilemmas in genetics are not simple, but the questions themselves will remain fascinating for many decades.
Received April 17, 2001; revision received September 7, 2001; revision received November 16, 2001; accepted November 30, 2001
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References |
|---|
|
TopAbstractIntroductionGenetic Testing of ChildrenGenetics of Psychiatric DiseaseImpact of Parental Testing...Ethical and Social IssuesWhat Pediatric Psychologists...DiscussionReferences |
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American Medical Association Council on Ethical and Judicial Affairs. (1995). Testing children for genetic status. Code of Medical Ethics, report 66.
American Society of Human Genetics and the American College of Medical Genetics. (1995). Points to consider: Ethical, legal, and psychological implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57, 1233-1241.[Medline]
Axworthy, D., Brock, D. J., Bobrow, M., & Marteau, T. H. (1996). Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. Lancet, 347, 1443-1444.[CrossRef][Web of Science][Medline]
Bailey, A., Phillips, W., & Rutter, M. (1996). Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. Journal of Child Psychology and Psychiatry, 37, 89-126.[Web of Science][Medline]
Bardoni, B., Mandel, J. L., & Fisch, G. S. (2000). FMR1 gene and fragile X syndrome. American Journal of Medical Genetics, 97, 153-163.[CrossRef][Web of Science][Medline]
Beardslee, W. R., Keller, M. B., Lavori, P. W., Staley, J., & Sacks, N. (1993). The impact of parental affective disorder on depression in offspring: A longitudinal follow-up in a non-referred sample. Journal of the American Academy of Child and Adolescent Psychiatry, 32, 723-730.[Web of Science][Medline]
Biederman, J., Farone, S. V., Keenan, K., Benjamin, J., Krifcher,
B., Moore, C., Sprich, S., Ugaglia, K., Jellineck, M. S., Steingard, R.,
Spencer, T., Norman, D., Kolodny, R., Kraus, I., Perrin, J., Keller, M. B.,
& Tsuang, M. (1992). Further evidence for familial-genetic
risk factors in ADHD: Patterns of comorbidity in probands and relatives in
psychiatrically and pediatrically referred samples. Archives of
General Psychiatry, 49,
728-738.
Clarke, A. (Ed.) (1998). The genetic testing of children. Oxford: Bios Scientific.
Clarke, A., & Flinter, F. (1996). The genetic testing of children: A clinical perspective. In T. Marteau & M. Richards (Eds.), The troubled helix: Social and psychological implications of the new genetics. Cambridge: Cambridge University Press.
Clayton, E. C. (1998). What should the law say about disclosure of genetic information to relatives? Journal of Health Care Law & Policy, 1, 373-391.
Codori, A.-M., Petersen, G., Boyd, P., Brandt, J., & Giardiello, F. M. (1996). Genetic testing for cancer in children: Short-term psychological effect. Pediatrics and Adolescent Medicine, 150, 1131-1138.
Collins, F. (1996). Commentary on the ASCO statement on genetic testing for cancer susceptibility. Journal of Clinical Oncology, 14, 1738-1740.[Web of Science]
Elger, B. S., & Harding, T. W. (2000). Testing
adolescents for a hereditary breast cancer gene (BRCA1). Archives
of Pediatric and Adolescent Medicine, 154,
113-119.
Evans, K. L., Muir, W. J., Blackwood, D. H. R., & Porteous, D. J. (2001). Nuts and bolts of psychiatric genetics: Building on the Human Genome Project. Trends in Genetics, 17, 335-340.
Fanos, J. (1997). Developmental tasks of childhood and adolescence: implications for genetic testing. American Journal of Medical Genetics, 71, 22-28.[CrossRef][Web of Science][Medline]
Farone, S. V., Tsuang, M. T., & Tsuang, D. W. (1999). Genetics of mental disorders: A guide for students, clinicians, and researchers. New York: Guilford Press.
Farrington, D. P., Barnes, G. C., & Lambert S. (1996). The concentration of offending behavior in families. Legal and Criminological Psychology, 1, 47-63.
Freundlich, M. D. (1998). The case against preadoption genetic testing. Child Welfare, 77, 663-679.[Web of Science][Medline]
Gagel, R. F., Cote, G. J., Martins Bugalho, M. J., Boyd, A. E. 3rd, Cummings, T., Goepfert, H., Evans, D. B., Cangir, A., Khorana, S., & Schultz, P. N. (1995). Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A. Journal of Internal Medicine, 238, 333-341.[Web of Science][Medline]
Geller, G., Tambor, E. S., Bernhardt, B. A., Wissow, L. S., & Fraser, G. (2000). Mothers and daughters from breast cancer families: A qualitative study of their perceptions of risk and benefits associated with minor's participation in genetic susceptibility research. Journal of the American Medical Womens Association, 55, 280-284.
Grody, W. W., & Desnick, R. J. (2001). Cystic fibrosis population carrier screening: Here at last—Are we ready? Genetics in Medicine, 3, 87-90.[Web of Science][Medline]
Grosfeld, F. J. M., Beemer, F. A., Lips, C. J. M., Hendriks, K. S. W. H., & ten Kroode, H. F. J. (2000). Parents' responses to disclosure of genetic test results of their children. American Journal of Medical Genetics, 94(4), 316-323.[CrossRef][Web of Science][Medline]
Grosfeld, F. J. M, Lips, C. J. M., Beemer, F. A., Blijham, G. H., Quirijnen, J. M. S. P., Mastenbroek, M. P., & ten Kroode, H. F. J. (2000). Distress in MEN2 family members and partners prior to DNA test disclosure. American Journal of Medical Genetics, 91, 1-7.[CrossRef][Web of Science][Medline]
Hamann, H., Croyle, R. T., Venne, V. L., Baty, B. J., Smith, K. R., & Botkin, J. R. (2000). Attitudes toward the genetic testing of children among adults in a Utah-based kindred tested for a BRCA1 mutation. American Journal of Medical Genetics, 92, 25-32.[CrossRef][Web of Science][Medline]
Hisada, M., Garber, J. E., Fung, C. Y., Fraumeni, J. F. Jr., &
Li, F. P. (1998). Multiple primary cancers in families with
Li-Fraumeni syndrome. Journal of the National Cancer
Institute, 90,
606-611.
Hughes, C. A. (1997). Genetic testing for inherited breast-ovarian susceptibility: The role of communication and personality characteristics. Unpublished doctoral dissertation, Howard University, Washington, DC.
Issa, A. M. (2000). Ethical considerations in clinical pharmacogenomics research. Trends in Pharmacological Sciences, 21, 247-249.[CrossRef][Medline]
Jenkins, J., Blitzer, M., Boehm, K., Feetham, S., Gettig, E., Johnson, A., Lapham, V., Patenaude, A. F., Reynolds, P., Guttmacher, A. E., & the Core Competency Working Group of the National Coalition for Health Professional Education in Genetics. (2001). Recommendations of core competencies in genetics essential for all health professionals. Genetics in Medicine, 3, 155-158.[Web of Science][Medline]
Johnston, L. B., Chew, S. L., Trainer, P. J., Reznekt, R., Grossman, A. B., Besser, G. M., Monson, J. P., & Savage, M. O. (2000). Screening children at risk of developing inherited endocrine neoplasia syndromes. Clinical Endocrinology, 52, 127-136.[CrossRef][Medline]
Kearns, G. L. (1995). Pharmaocgenetics and development: Are infants and children at increased risk for adverse outcomes? Current Opinion in Pediatrics, 7, 220-233.[Medline]
Lerman, C., Caporaso, N. E., Bush, A., Audrain, J., Main, D., & Shields, P. G. (2001). Tryptophan hydroxylase gene variant and smoking behavior. American Journal of Medical Genetics, 105(6), 518-520.[CrossRef][Web of Science][Medline]
Lerman, C., Peshkin, B. N., Hughes, C., & Issacs, C. (1998). Family disclosure in genetic testing for cancer susceptibility: Determinants and consequences. Journal of Health Care Law and Policy, 1, 353-372.
Marteau, T., & Richards, M. (Eds.). (1996). The troubled helix: Social and psychological implications of the new genetics. Cambridge: Cambridge University Press.
MacCollin, M., Gutmann, D. H., Korf, B., & Finkelstein, R. (2001). Establishing priorities in neurofibromatosis research: A workshop summary. Genetics in Medicine, 3(3), 212-217.[Medline]
Michie, S., Bobrow, S., Marteau, T. M., & the FAP Collaborative
Research Group. (2001). Predictive genetic testing in children
and adults: A study of emotional impact. Journal of Medical
Genetics, 38,
519-526.
Michie, S., & Marteau, T. M. (1996). Predictive genetic testing in children: The need for psychological research. British Journal of Health Psychology, 1, 3-14.
Moldin, S. O., & Gottesman, I. I. (1997). At
issue: Genes, experience, and chance in schizophrenia-positioning for the 21st
century. Schizophrenia Bulletin,
23, 547-561.
Muir, W. J. (2000). Genetic advances and learning
disability. British Journal of Psychiatry,
176, 12-19.
Neugut, A. I., Jacobson, J. S., & DeVivo, I. Epidemiology of colorectal adenomatous polyps. Cancer Epidemiology, Biomarkers, and Prevention, 2, 159-176.
Offit, K. (1998). Clinical cancer genetics. New York: Wiley-Liss.
Owen, M. J., & Cardno, A. G. (1999). Psychiatric genetics: Progress, problems, and potential. Lancet, 354(suppl 1), 11-14.[CrossRef][Web of Science]
Patenaude, A. F., Basili, L., Fairclough, D., & Li, F. P.
(1996). Attitudes of 47 mothers of pediatric oncology patients.
Journal of Clinical Oncology,
14, 415-421.
Reed, T., Page, W. F., Viken, R. J., & Christian, J. C. (1996). Genetic predisposition to organ-specific endpoints of alcoholism. Alcoholism: Clinical and Experimental Research, 20, 1528-1533.[CrossRef][Web of Science][Medline]
Robertson, M. (1989). False start on manic depression. Nature, 342, 222.[CrossRef][Medline]
Rutter, M., Silberg, J., O'Connor, T., & Simonoff, E. (1999a). Genetics and child psychiatry: I. Advances in quantitative and molecular genetics. Journal of Child Psychology and Psychiatry, 42, 3-18.
Rutter, M., Silberg, J., O'Connor, T., & Simonoff, E. (1999b). Genetics and child psychiatry: II. Empirical research findings. Journal of Child Psychology and Psychiatry, 40, 19-55.[CrossRef][Web of Science][Medline]
Smith, K. R., West, J. A., Croyle, R. T., & Botkin, J. R.
(1999). Familial context of genetic testing for cancer
susceptibility: Moderating effect of siblings' test results on psychological
distress one to two weeks after BRCA1 mutation testing (1999).
Cancer Epidemiology, Biomarkers, and Prevention,
8, 385-392.
Tercyak, K. P., Hughes, C., Main, D., Snyder, C., Lynch, J. F., Lynch, H. T., & Lerman, C. (2001). Parental communication of BRCA1/2 genetic test results to children. Patient Education and Counseling, 42, 213-224.[CrossRef][Web of Science][Medline]
Van Heurn, L. W. E., Schaap, C., Sie, G., Haagen, A. A. M. Gerver, W. J., Freling, G., van Amstel, H. P., & Heineman, E. (1999). Predictive DNA testing for multiple endocrine neoplasia 2: A therapeutic challenge of prophylactic thryroidectomy in very young children. Journal of Pediatric Surgery, 34, 568-557.[CrossRef][Web of Science][Medline]
Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhi, D. P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., Eussen, B. E., Van Ommen, G. J., Blonden, L. A. Riggens, G. J., Chastain, J. L., Kunst, C. B., Galjaard, H., Caskey, C. T., Nelson, D. L., Oostra, B. A., & Warren, S. T. (1991). Identification of a gene (FMR-1) containing a CHGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.[CrossRef][Web of Science][Medline]
Welch, G. H., & Burke, W. (1998). Uncertainties in
genetic testing for chronic disorders. Journal of the American
Medical Association, 280,
1525-1527.
Wertz, D. C., Fanos, J. H., & Reilly, P. R. (1994)
Genetic testing for children and adolescents: Who decides? Journal
of the American Medical Association, 272,
875-881.
Williams, W. R., & Strong, L. C. (1985). Genetic epidemiology of soft tissue sarcomas in children. In H. R. Mueller & W. Weber (Eds.), Familial cancer: First International Research Conference. Basel: AG Karger.
Wolf, C. R., & Smith, G. (1999). Pharmacogenetics.
British Medical Bulletin, 55,
366-386.
Zeesman, S., Clow, C. L., Cartier, L., & Scriver, C. R. (1984). A private view of heterozygosity: Eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. American Journal of Medical Genetics, 18, 769-778.[CrossRef][Web of Science][Medline]
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