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PEDIATRICS Vol. 110 No. 2 August 2002, pp. 360-363

Attitudes of Pediatric Residents Toward Ethical Issues Associated With Genetic Testing in Children

Ami Rosen, MS*, Sylvan Wallenstein, PhD{ddagger} and Margaret M. McGovern, MD, PhD§

* GeneCare Medical Genetics Center, Atlanta, Georgia
{ddagger} Departments of Biomathematics
§ Human Genetics and Pediatrics; Mount Sinai School of Medicine, New York, New York


   ABSTRACT
TOP
 ABSTRACT
INTRODUCTION
 METHODS
 RESULTS
 DISCUSSION
 REFERENCES
 
Objective. To assess the attitudes of pediatric residents toward molecular genetic testing and some associated ethical issues that accompany its use in pediatric patients.

Methods. A questionnaire study of pediatric residents (n = 160; response rate: 40%) enrolled in training programs at 3 New York metropolitan area hospitals was designed to determine their attitudes toward genetic testing in children and adolescents. The study instrument presented 2 clinical vignettes that described scenarios where a pediatric patient was at risk for being affected with or a carrier of a genetic disorder. Residents returned the questionnaire anonymously.

Results. Most pediatric residents recognized the importance of educating family members (95%) and at-risk individuals (89%) about the inheritance pattern of the disorders they were at risk for. However, a substantial number would order predictive testing for Huntington disease in a child at the request of a parent (39% at age 10 and 52% at age 17), and more than half would order fragile X carrier studies on the cognitively normal sister of an affected male (56%).

Conclusions. An effort must be made to educate all physicians during their residency training about the ethical issues associated with genetic testing. For pediatric residents, such education must include instruction on the complexities associated with offering such testing in this age group.

Key Words: pediatric resident education • genetic testing • genetic screening • ethics

Abbreviations: PGY, postgraduate year


   INTRODUCTION
TOP
 ABSTRACT
 INTRODUCTION
METHODS
 RESULTS
 DISCUSSION
 REFERENCES
 
The scientific knowledge gained through the Human Genome Project has led to remarkable advances in determining the molecular basis for a wide variety of inherited and acquired disorders, including the identification of hundreds of disease-causing genes and the characterization of thousands of mutations. These investigations have as an important goal the determination of the pathophysiology of the particular disorder under study and the subsequent development of therapeutic or preventive strategies. However, in clinical practice one of the first applications of knowledge about the molecular basis of a particular disorder is the development of a diagnostic test to identify disease-causing alleles. The availability of such tests in the future is expected to be widespread, particularly with the development of robotics and microchip technology that will permit low-cost mass screening. Indeed, investigators have already devised specific molecular diagnostic tests for a host of genetic diseases, including cystic fibrosis, 1,2 fragile X mental retardation,3 inherited neurologic diseases,4–6 and others. More recently, similar investigations have been undertaken to identify the molecular genetic basis of common disorders, including breast7,8 and colon9 cancer, diabetes,10 and Alzheimer’s disease,11 and diagnostic tests with broader applications such as assessing individual genetic response to pharmacologic agents, 12,13 infectious agents, and other environmental exposures are expected to become available soon.

The ability to test for disease-causing or predisposing genes and genes that determine the response to environmental agents will fundamentally change the practice and scope of genetic testing, expanding it from the traditional areas of prenatal diagnosis and newborn screening for rare metabolic disorders to predisposition, presymptomatic, and susceptibility testing. The increased availability of molecular genetic testing, coupled with the relatively small genetics workforce, is expected to result in the need for primary care physicians to become educated about the appropriate integration of such testing into their clinical practice.14 In particular, because as many as one third of pediatric admissions are children with disorders with a genetic cause,15,16 it is anticipated that pediatricians will assume an important role in attaining access to appropriate testing for their patients and family members. In addition, pediatricians will need to communicate test result information to families and be sensitive to the significant ethical issues that have been articulated in a number of forums regarding genetic testing in minors.16–20

In this study, we conducted a survey of pediatric residents to assess their attitudes toward genetic testing and the associated ethical issues to assess the need for educational intervention during the training of pediatric residents.


   METHODS
TOP
 ABSTRACT
 INTRODUCTION
 METHODS
RESULTS
 DISCUSSION
 REFERENCES
 
Human Subjects
The study population included 160 pediatric residents in training programs at 3 metropolitan New York hospitals. The study was conducted during the 1999–2000 academic year with institutional review board approval at all 3 sites. All participants were asked to complete and return an anonymous questionnaire.

Study Instrument
Responses to the survey were noted directly on the form and were later entered into a database for analysis. Respondents were assured confidentiality, and no identifiers were present on the survey forms. All respondents were asked to return separately a coded postcard that permitted follow-up with nonresponders.

The survey instrument included both open- and closed-ended questions and was validated and improved through an initial pilot study with 10 pediatric and genetics fellows. Participants were asked to complete the survey at the beginning of the academic year and to return it by mail to the study coordinator. Information was obtained from each participant about his or her age, gender, educational background, and current residency year. Each participant was then instructed to read 2 clinical vignettes that presented pediatric encounters that involved a potential genetic risk for their patient and/or family members, each of which was followed by a series of open-ended and scaled questions that were designed to assess resident attitudes toward the ethical issues raised in the vignette. The scaled question responses included a scale of 1 to 5, which corresponded to the following response: 1 = definitely, 2 = probably, 3 = not sure, 4 = probably not, and 5 = definitely not.

The Clinical Vignettes
The clinical vignettes were constructed to present issues related to the performance of molecular genetic testing in children and adolescents. In each vignette, the residents were provided with information about the inheritance pattern for the disorder, the main clinical manifestations and prognosis, and the genetic risk to their patient. The first vignette described a 4-year-old male patient with Fragile X mental retardation, the most common form of inherited mental retardation, and posed questions related to the following: 1) the duty of the physician to inform other family members of the diagnosis, 2) duty to inform the parents about the availability of prenatal diagnosis; and 3) the appropriateness of obtaining carrier studies in a cognitively normal 9-year-old sister. The second vignette presented a family with a 10-year-old child at risk for Huntington disease, an autosomal dominant neurologic disorder that appears in adulthood, and raised questions about the following: 1) autonomy of the minor, 2) informed assent, and 3) the importance of factors in deciding whether and when to order testing in the at-risk child. These factors included: potential parental reaction to a positive result, lethality of the disease, degree of parental anxiety about future health of the child, lack of preventive measures or treatment, costs of testing, and logistics of obtaining testing.

Statistical Analysis
{chi}2 analysis was used to compare the gender and year of residency (ie, postgraduate year [PGY] 1, 2, or 3) of respondents to those of the entire study population in the 3 participating institutions. For the scaled questions, responses of 1 or 2 (definitely and probably) were combined to correlate with a positive or "yes" response. Responses of 4 and 5 (probably not and definitely not) were combined to correlate with a negative response.


   RESULTS
TOP
 ABSTRACT
 INTRODUCTION
 METHODS
 RESULTS
DISCUSSION
 REFERENCES
 
Characteristics of the Respondents
Sixty-four residents responded to the survey for a response rate of 40%. The mean age of the respondents was 30 years (range: 25–42), and 64% were female. Forty-four percent were in the first year of pediatric residency, 20% were in the second year, and 36% were in the third or fourth year. The residents had graduated from medical school between 1982 and 1999, with a median year of 1997. Sixty-two percent were United States medical school graduates; 38% had graduated from a foreign medical school. Eighty percent of respondents had majored in a field related to science or medicine during their undergraduate education. The majority of respondents (81%) reported having a human genetics course in medical school: 31% had 1 to 15 hours, 41% had 15 to 30 hours, and 29% had over 30 hours. Ninety percent had an ethics course in medical school. Almost half (49%) took at least 1 undergraduate course in genetics, and 8% reported having some professional experience in clinical genetics. Fifteen percent of respondents had higher education degrees (ie, above the level of a Bachelor’s degree) in addition to their MD or DO degree.

The gender and year of residency distributions of all pediatric residents at the 3 participating institutions were compared with the gender and year of residency distribution of the survey respondents to determine whether there were any significant differences between the responding group and the entire population of residents. The distribution of the gender of pediatric residents who responded did not differ significantly from the distribution of gender among the entire group (P < .001). With regard to year of training, the distribution of respondents among the PGY 1 and PGY 3/4 years did not differ significantly from the distribution for the entire group. In contrast, the representation of PGY 2 residents among the respondents was less than the percentage of all residents in the PGY 2 year for the entire resident group (P < .001), which may have been attributable to the fact that PGY 2 residents have more elective months and may have been at other campuses or institutions making follow-up efforts to achieve participation more difficult.

Attitudes Reported
The responses of the pediatric residents to the questions posed after the 2 vignettes are summarized in Table 1. The majority of residents (95%) recognized their duty to inform the mother of a child with fragile X mental retardation about the availability of prenatal diagnosis. Similarly, most (84%) would suggest that the mother inform her extended family of the diagnosis, and 70% would follow-up to make sure this had occurred. Eighty-nine percent recognized the need to inform the daughter about the mode of inheritance, 31% indicating that it would be appropriate to do so now at age 9, and 86% indicating that it would be appropriate to do so by the teenage years. Eighty-five percent recognized the need for carrier studies in the sister, with 56% indicating they would order such testing now, at the age of 9 years. There was no significant difference among respondents who would or would not perform testing on the nine year old with regard to their year of residency (P < .001), gender (P < .005), or exposure to a genetics course of 15 hours or more in medical school (P < .001).


View this table:
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  		TABLE 1. Pediatric Resident Responses to Questionnaire Items

 
For the Huntington Disease vignette, 39% would order testing for the son at risk at age 10 if the parent requested it, 45% would not, and 16% were not sure what they would do. Of those who would obtain the test at age 10, 24% would obtain assent from the child before testing. If the parent asked for testing when the son was 17 years old, 52% would order it, 31% would not, and 17% were unsure. Eighty-four percent of those who would order the test at age 17 would obtain assent from the son. Respondents were more likely to order the test at both ages if the request came from the son (44% vs 39% for age 10 and 89% vs 52% at age 17), but this difference was only significant at age 17 (P < .001). The factor that was most important to pediatric residents who would order the test in the at-risk 10-year-old was the lethality of the disease (46%). For those who would not order the test in the 10-year-old, the lack of any preventive measures or treatment (39%) and parental reaction if results were positive (33%) were the most often cited factors. As with the fragile X vignette, there was no significant difference among respondents who would or would not perform testing on the 10-year-old at risk for Huntington Disease with regard to their year of residency (P < .001), gender (P < .001), or exposure to a genetics course of 15 hours or more in medical school (P < .005).


   DISCUSSION
TOP
 ABSTRACT
 INTRODUCTION
 METHODS
 RESULTS
 DISCUSSION
REFERENCES
 
The availability of molecular genetic testing for the identification of carriers of disease-causing genes, and for presymptomatic and predisposition testing, presents unique concerns for the pediatric population. For example, the performance of predictive tests during childhood, particularly for disorders that manifest in adulthood, eliminates the autonomy of the child to make a decision regarding testing for themselves. Indeed, both an American Academy of Pediatrics policy statement entitled "Ethical Issues Associated with Genetic Testing"22 and a policy statement by the American Society of Human Genetics17 have each recommended that carrier testing and testing for adult onset disorders should be deferred until adulthood, or until an adolescent who expresses interest in testing demonstrates sufficient maturity to make the decision. Moreover, it has been widely advocated that molecular genetic testing should be offered only when resources are available to ensure that there is a process of informed consent and/or assent from older children.23,24

In the study reported here, the majority of pediatric residents recognized the importance of educating family members (95%) and at-risk individuals (89%) about the inheritance of fragile X mental retardation. However, a substantial number would order predictive testing for Huntington disease in a child at the request of a parent (39% at age 10 and 52% at age 17), and more than half would order fragile X carrier studies on the cognitively normal sister of an affected male (56%). Similar findings have been noted in other studies that have surveyed practicing physicians attitudes about the use of genetic tests.25–27 In 1 study, 25% of physicians indicated that they would test minors for a cancer predisposition gene, and about the same number would disclose genetic test results for an adult onset disorder to family members without the patients consent.26

The finding that the most important factor among residents who would order Huntington Disease testing in the at-risk 10-year-old was the lethality of the disorder also is of interest. It has been recognized that reduction of uncertainty about genetic status for a lethal disorder can accrue significant psychological benefit.17 However, most studies that observed this benefit have been conducted in adults at risk for adult-onset disorders where both positive and negative results were each found to reduce anxiety.28 Similarly, parents and their at-risk children may experience substantial anxiety related to genetic risks. Nevertheless, until studies designed to assess the relative risks and benefits of genetic testing in children have been conducted, it continues to be recommended that testing be deferred until adulthood.17,22 For those residents who would not order Huntington Disease predictive testing, the finding that the most important factors in the decision were potential parental reaction, and the absence of any preventive measures appropriately reflect the potential risks of testing. For the child with a positive result, there may be a reduction in self esteem, and the relationships that exist with their parents and siblings may change.29 For example, a child known to have a deleterious gene may be overindulged by one family and rejected by another.30 Moreover, there is risk of the child being seen as vulnerable by the parent, resulting in restriction of activities.31 For the child who tests negative there is the risk of "survivor guilt,"32 particularly if other siblings are known mutant gene carriers. Thus, the provision of genetic testing services in pediatric practice requires that the pediatrician either spend considerable time with the family to explore these complex issues and to assist them in coming to terms with the proper course of action that will fulfill their specific needs, or refer the family to a genetics professional for counseling. In either case, recognition of the ethical issues is necessary to ensure appropriate clinical management of the testing process.

Unfortunately, a number of studies have documented that practicing primary care physicians lack a strong foundation in genetic principles and may not always use genetic testing appropriately.33–36 Thus, it has been suggested that targeted educational interventions to educate physicians about the proper use of genetic tests are necessary. The findings presented here also suggest that such efforts should be incorporated into pediatric residency training programs to provide instruction and guidance about the ethical issues associated with genetic testing in children and adolescents. In particular, the fact that residents who had had a genetics course in medical school of 15 curriculum hours or more were as likely to order presymptomatic and carrier testing in a minor as those who had minimal or no genetics education suggests that medical school genetics courses may not adequately address the ethical concerns associated with genetic testing in the pediatric age group. Moreover, the finding that there was no significant difference between PGY 1 and PGY 3 residents in terms of the attitudes about ordering genetic testing in childhood suggests that additional education during pediatric residency is required to ensure its appropriate use by graduating residents.


   FOOTNOTES
 
Received for publication Oct 29, 2001; Accepted Mar 6, 2002.

Reprint requests to (M.M.M.) 100th St and Fifth Ave, Box 1497, New York, NY 10029. E-mail: margaret.mcgovern@mssm.edu


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 ABSTRACT
 INTRODUCTION
 METHODS
 RESULTS
 DISCUSSION
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PEDIATRICS (ISSN 1098-4275). ©2002 by the American Academy of Pediatrics

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