Pediatric Annals

GENETIC SCREENING 

Genetic Testing in Children: Ethical and Social Points to Consider

James W Hanson, MD, FAAP, FACMG; Elizabeth J Thomson, RN, MS, CGC, FAAN

Abstract

With the recent advances in human genetics and the imminent completion of the Human Genome Project,1"3 medicine and health care in the United States are poised for dramatic, and potentially problematic, changes affecting the daily care of persons of all ages.4,5 Health care services, informed by genetic information, may finally become more relevant as the focus turns toward the treatment of underlying causes of diseases rather than the management of their effects. Such treatments will become available for common childhood and adult problems, in contradistinction to the historical emphasis on rare pediatric and obstetrical concerns. This shift has begun to captivate not only researchers, but also health care providers, commercial interests, and the public. This will inevitably be reflected in health and social policies, with attendant implications for children and their families.

Along with these changes will be a recognition that health promotion and disease prevention require an intensive examination of the genetic contribution to normal processes (eg, growth, development, homeostasis, behavior, and cognition), for which there is considerable variability in the general population.6 Increased examination of the consequences of "normal variation"2,7 may also have important implications for the development of treatments for individuals and for the protection of individual rights and other important public policies.

All of this new genetic information will need to be considered in the context of environmental and sociocultural factors. One consequence will likely be a dramatic refocusing away from the diagnosis and treatment of rare disorders and toward early identification and risk reduction interventions designed to effect changes in longterm health outcomes for individuals and public health.8

The development of genetic technology and the use of genetic information will have significant consequences for the health and well-being of children and for those who care for them. Although the information discovered about an individual child may prove beneficial in planning care, it may also be accompanied by unanticipated and sometimes untoward consequences. Clinicians should therefore examine the implications of genetic screening and testing in childhood in light of important ethical and social considerations.

WHAT ARE "GENETIC SCREENING" AND "DIAGNOSTIC GENETIC TESTING"?

Although the terms screening and testing, when related to evaluation of genetic factors, are sometimes used interchangeably, it is important to recognize the different implications of these terms. Indeed, it is also important to note that a "genetic test" of whatever type could be defined as either a test for a genetic condition or characteristic, or a test based on an evaluation of the genetic material (ie, chromosomes, DNA, and RNA). For the purposes of this article, all methods to acquire information about the heritable constitution of individuals will be the essential issue from an ethical and social issues perspective. Thus, it makes little difference whether such efforts are based on new technologies intended to evaluate the DNA sequence of a gene, or the act of taking a family history.

Genetic screening and genetic diagnostic testing are parts of a continuum. Screening is ? search for factors indicating an increased likelihood of a particular outcome, generally applied in a large and unselected population. Thus, screening is near the early end of an evaluative process, wherein the group to be screened is perceived to be asymptomatic or "presymptomatic" and at an overall relatively low level of risk to actually have the disorder or risk factor for which screening is being performed. Typically, screening tests are intended to be simple, inexpensive, of low risk, applied widely, and cost effective.9 Such tests may vary widely in their specificity, sensitivity, and predictive value. Determining maternal age, race, and ethnicity during prenatal care is one example of a first…

With the recent advances in human genetics and the imminent completion of the Human Genome Project,1"3 medicine and health care in the United States are poised for dramatic, and potentially problematic, changes affecting the daily care of persons of all ages.4,5 Health care services, informed by genetic information, may finally become more relevant as the focus turns toward the treatment of underlying causes of diseases rather than the management of their effects. Such treatments will become available for common childhood and adult problems, in contradistinction to the historical emphasis on rare pediatric and obstetrical concerns. This shift has begun to captivate not only researchers, but also health care providers, commercial interests, and the public. This will inevitably be reflected in health and social policies, with attendant implications for children and their families.

Along with these changes will be a recognition that health promotion and disease prevention require an intensive examination of the genetic contribution to normal processes (eg, growth, development, homeostasis, behavior, and cognition), for which there is considerable variability in the general population.6 Increased examination of the consequences of "normal variation"2,7 may also have important implications for the development of treatments for individuals and for the protection of individual rights and other important public policies.

All of this new genetic information will need to be considered in the context of environmental and sociocultural factors. One consequence will likely be a dramatic refocusing away from the diagnosis and treatment of rare disorders and toward early identification and risk reduction interventions designed to effect changes in longterm health outcomes for individuals and public health.8

The development of genetic technology and the use of genetic information will have significant consequences for the health and well-being of children and for those who care for them. Although the information discovered about an individual child may prove beneficial in planning care, it may also be accompanied by unanticipated and sometimes untoward consequences. Clinicians should therefore examine the implications of genetic screening and testing in childhood in light of important ethical and social considerations.

WHAT ARE "GENETIC SCREENING" AND "DIAGNOSTIC GENETIC TESTING"?

Although the terms screening and testing, when related to evaluation of genetic factors, are sometimes used interchangeably, it is important to recognize the different implications of these terms. Indeed, it is also important to note that a "genetic test" of whatever type could be defined as either a test for a genetic condition or characteristic, or a test based on an evaluation of the genetic material (ie, chromosomes, DNA, and RNA). For the purposes of this article, all methods to acquire information about the heritable constitution of individuals will be the essential issue from an ethical and social issues perspective. Thus, it makes little difference whether such efforts are based on new technologies intended to evaluate the DNA sequence of a gene, or the act of taking a family history.

Genetic screening and genetic diagnostic testing are parts of a continuum. Screening is ? search for factors indicating an increased likelihood of a particular outcome, generally applied in a large and unselected population. Thus, screening is near the early end of an evaluative process, wherein the group to be screened is perceived to be asymptomatic or "presymptomatic" and at an overall relatively low level of risk to actually have the disorder or risk factor for which screening is being performed. Typically, screening tests are intended to be simple, inexpensive, of low risk, applied widely, and cost effective.9 Such tests may vary widely in their specificity, sensitivity, and predictive value. Determining maternal age, race, and ethnicity during prenatal care is one example of a first step in a screening process. Screening all newborns for phenylketonuria is another example of such screening.

Diagnostic genetic testing represents a much more refined search for genetic factors when specific outcomes and clinical interventions are considered. When genetic tests are done in this context, there are reasons to suspect that a person has a substantial probability of being affected. Such reasons may include the presence of a pattern of occurrence in a family (eg, evidence of autosomal dominant inheritance in a family of breast or colon cancer [BRCAl and 2 or hereditary nonpolyposis colorectal cancer testing]),10-11 positive results from screening activities (eg, presence of iron overload [hereditary hemochromatosis testing]),12 or the presence of symptoms (eg, failure to thrive and recurrent lung infections [cystic fibrosis testing]).13 In the latter situations, the analytical validity, clinical validity, and clinical utility of a test assume increasing importance because their results lead to direct consequences.14

When viewed in this way, it is clear that genetic screening and genetic diagnostic testing in childhood (or, for that matter, at older ages) are not new. What has changed is the technical ability to assess risk for a large number of disorders and a wider range of characteristics (whether health related or not) with a single blood or other tissue sample. These technologic changes have shortened and, in some sense, blurred the screening-testing continuum. For instance, the same "genetic" test based on DNA examination can now sometimes be considered for use either in a screening program or as part of a diagnostic evaluation in a clinical setting. Likewise, tandem mass spectroscopy to measure serum organic compounds can be used in both settings. However, when it is used in a clinical context, the indications for the test increase the likely validity of a positive test result.

Genetic tests are now available for literally hundreds of disorders,15 including those that have lower penetrance or later onset and those that have limited interventions and inadequate or no treatments. Furthermore, genetic tests often identify not only those who are affected with genetic disorders, but also those who are healthy carriers of disorders (a situation that can lead to inappropriate labeling, stigmatization, and discrimination).16 As presented elsewhere in this issue, proposals to screen or to perform presymptomatic tests for cystic fibrosis or congenital hearing loss17 are now under consideration, as are proposals to extend the scope of newborn screening using new technologies such as tandem mass spectroscopy. In addition, proposals to screen adults for such disorders as Alzheimer's disease18 and iron overload and hereditary hemochromatosis and for various cancers have been debated.1012 Given that the pathophysiological mechanisms for many such conditions begin in childhood, it should not be surprising that screening for the purposes of prevention or early intervention commonly raises questions about screening children. This makes it all the more important for pediatricians to be well informed and equipped to enter the debates about what disorders are appropriate for genetic screening, who should be screened, and at what age to screen.

ARE SCREENING OR DIAGNOSTIC GENETIC TESTS DIFFERENT FROM OTHER MEDICAL PROCEDURES?

Genetic knowledge, whether the result of genetic testing in clinical or screening settings or acquired through other methods, is often characterized as being special. This notion of "genetic exceptionalism"19 is sometimes asserted as the basis for special protections. However, such information may not be more sensitive than other types of medical information (eg, sexually transmitted diseases, sexual preferences, or other serious health or disability factors). Likewise, genetic information is not unique in having implications for other persons (eg, infectious diseases and environmental threats). Nevertheless, concerns have been expressed about how genetic information may be used to stigmatize and discriminate against individuals in health insurance and employment,20"22 and it has been recommended by some that genetic information (at least that obtained during the course of genetics research) be kept separate from the medical record.23 It is clear that genetic and molecular technologies are unusually robust in delineating risk factors and disease mechanisms, and the very nature of the biospecimens collected and stored for DNA-based and related molecular genetic research opens the door to unanticipated research (and sometimes clinical) consequences. Specimens collected for genetic testing in clinical and screening settings could easily be used for other purposes with potentially adverse consequences for individuals and their families. Also, genetic information sometimes reveals information that is not intended (eg, risk for a disorder other than the one for which the test was performed, or misattributed paternity). Thus, the responsible collection and use of biospecimens is imperative.24,25 It is also true that a person's DNA is inherently unique among personal identifiers. Thus, information related to one's genetic makeup is particularly sensitive, as it potentially can be used to identify a single individual without other identifying information.

WHAT ARE THE ETHICAL AND SOCIAL CONCERNS (RISKS) OF PERFORMING GENETIC TESTING GENERALLY. AND IN CHILDREN SPECIFICALLY?

There are both potential benefits and adverse consequences (ie, risks) to these enhanced capabilities and to the availability of genetic knowledge. The balance of these risks and benefits has important consequences for individuals (particularly children), families, and society. There are multiple parties involved in genetic screening, testing, or both, not all of whom have the same motivations or interests. Thus, there is a need to balance the rights of children with the rights of parents and other family members.

Infants and young children are not viewed as autonomous individuals. Indeed, the level of opportunity and ability to make decisions on one's own behalf is clearly dependent on numerous developmental, legal, and cultural factors. Parents, advocates, and the state all assert their interests in the welfare of children. It is exceedingly important to recognize that each of these groups may appeal to different sets of values in justifying their interests, and that some of these may reflect, to a greater or lesser extent, their own interests rather than those of a child. Among the issues to be considered are autonomy, consent, privacy, and psychosocial risks such as stigmatization, discrimination, and altered family relationships. Many of these have ramifications for health and public policies, as described below.

It is not the purpose of this article to present the ethical arguments and principles in consideration of the application of genetic testing in children. These have been presented extensively elsewhere.26-28 Rather, the authors believe that a discussion of issues that arise in clinical and public health settings may be a cogent way of identifying some of the problem areas.

One of the first challenges lies in who may give consent to testing of children and under what circumstances. It is generally agreed that parents have a vital, if not controlling, interest in determining whether a child should be tested. However, it should be recognized that these rights are far from absolute. Indeed, the potential risks and benefits to the child are customarily considered as a framework for the exercise of these parental rights. For instance, in the case of genetic testing for research purposes, federal regulations29 outline a demanding set of requirements for inclusion of children, including independent review of research proposals by carefully constituted panels to ensure protection of children.

Likewise, in the public health arena, states set the rules for public health genetic screening programs. These have been justified through both ethical and economic arguments. In general, genetics specialists and others have concluded that when genetic testing is to be done the "gold standard" is to obtain informed consent (or, in the case of children, informed permission by the parents),28'30 but there have been notable exceptions to this. In newborn screening, testing is "mandatory" and in all but one state may be performed unless permission is denied by the parents.

Recently, a number of articles have been published suggesting that mandatory newborn screening be replaced with mandatory offering of newborn screening tests. Proponents have argued that parents, who are most likely to have the best interests of their child in mind, should have a substantial role in determining what testing is done for their child.28 According to opponents, testing is often not done for reasons completely unrelated to any ethical issues and many infants will be missed and potentially harmed because someone forgot to ask the parents whether they would like them to be screened.31 They argue that the default position should be one that protects the infant. However, even when consent is sought, important questions, such as what information should be presented, to whom should it be presented, and under what circumstances should it be presented, arise.

Arguments for state authority may also be buttressed with claims having economic overtones. Perception of public burden is one of the factors often weighed in developing public health screening programs. Such issues become especially important when consideration is given to using the resources of the state to ensure what is viewed as the protection of certain groups of individuals. Individuals who are considered to be unusually vulnerable, such as children, may appropriately have a special claim in this situation.

Children may also be determined to be at risk for genetic conditions, and therefore be considered for testing, in a variety of clinical settings. In this situation, risk is defined based on the suspected presence of a genetic characteristic, because of a positive family history, or because the child belongs to a group thought to have a higher frequency of certain genetic characteristics. Although permission for testing may be sought from parents, it is important to assess the ability of the child to participate in the decisionmaking process and the risks and benefits that may accrue to the various parties. Often, there is no compelling urgency for the testing (as there would be if there were immediate benefit to the child from the testing and intervention), and decisions can be reasonably deferred until the child can make a determination on his or her own behalf. Thus, the potential risks and benefits of genetic diagnostic testing should also be carefully weighed in clinical settings and providers should determine whether it is in the best interests of the child to have the testing done.

Loss of privacy is another concern that arises in the context of genetic testing, especially of children. This loss can have specific adverse consequences, as described below, for both those tested and other family members. Even when steps are taken to protect genetic information from disclosure, it is sometimes difficult to keep the information private, especially if it has health implications for other individuals. In some instances, family members may attempt to coerce individuals who are at risk into being tested or who have been tested into revealing their test results. Inadvertent disclosure of genetic information about one individual to other individuals, including family members, also occurs.

Also, in many instances, testing of one or a few family members may reveal highly sensitive information about other family members (eg, misidentified paternity within a family). The risk of such a finding being revealed in a family study is sufficiently great that it requires specific discussion when testing children. Clearly, the inadvertent release of such information can have devastating family consequences affecting children.

Although genetic screening and testing may protect some individuals, they can lead to negative consequences for others, including families. It is important to assess who will potentially benefit from and who may be harmed by (ie, individuals, family members, members of a special interest group, or the community at large) genetic testing in childhood. Among the adverse consequences that may affect the various parties are anxiety and guilt, altered family relationships, stigmatization, discrimination, the need for additional health care resources, and increased health care costs.

The individuals being tested, their families, and even the wider communities to which they belong may feel stigmatized by the results. History is replete with examples of individuals or groups being perceived as less desirable or disadvantaged because of genetic characteristics. This may happen even when these individuals or groups themselves are not affected by a particular condition, but are only carriers or are at increased risk to be carriers of a condition.16 Persons with positive test results (eg, parents with an affected child) may feel guilt, and those with a presymptomatic genetic trait may feel anxiety over the perceived likelihood of future health consequences, even if interventions are available. Children may be especially at risk for this outcome and for parental actions based on their own anxieties. In fact, persons with negative (ie, normal) test results in families with other affected members sometimes experience "survivor guilt."32

Stigmatization carries with it the risk of overt discrimination. Loss of insurability and loss of employability are two manifestations of discrimination about which much concern has been expressed.20,21 Unfortunately, there is relatively little known about the extent of these risks. Most information has been based on anecdotal (case) reports rather than epidemiologic studies. Nonetheless, these anecdotes have suggested that such risks may exist and the perception of risk certainly exists,22 despite legislative and executive actions intended to bar such practices.

Among the adverse and unintended consequences of genetic testing in children is an increase in financial burden. For instance, those families whose children are screened may incur additional expense or anxiety by virtue of a falsepositive or an indeterminant test result. Genetic tests can give incomplete information or information that is difficult to interpret. A valid positive test result may require additional medical care.

The use or interpretation of tests by providers may be inappropriate or incompletely informed. This can be compounded by commercial claims about the usefulness of tests for genetic conditions that lead consumers to request such testing, often with unrealistic expectations. In such instances, providers may inadvertently offer unnecessary or inappropriate further evaluation or care, leading to increased expenses for the patient or family.

Finally, there are public policy concerns about the use of genetics in health care, including genetic testing in children.33 Some of these are related to a more general lack of access to health care and include questions of whether such services are available, who pays for them, and other organic problems with our health care delivery system. The costs of genetic testing and care for persons with genetic predispositions or conditions are inconsistently included in U.S. health plans. In part, this reflects the fact that some services historically were provided through public health ' programs for women and children. However, perhaps of greater consequence has been the lack of information on demand and cost-effectiveness for such services, and, until recently, their perceived lack of relevance to common adult health concerns. Furthermore, the recent emphasis on primary care has perversely affected the incorporation of genetics into the health care system, because genetics has been seen as related to chronic and complex conditions that are commonly the province of specialty providers, including academic institutions.

Likewise, our health care system has disincentives to regionalization of services, and defining levels of care to address complex and chronic conditions has often been unsuccessful. As a consequence, the type and quality of genetic services vary from state to state at the personal health level, although children fare somewhat better in public health settings.

There is also no consistent and reliable way by which states or federal agencies deal with equity issues in the prioritization of genetic health services. As the number and type of genetic tests increase, there will inevitably be conflicts among competing claims for scarce health care dollars. The current debate over when and how to incorporate tandem mass spectroscopy into newborn screening for the detection of medium chain acyl coenzyme A dehydrogenase deficiency reflects the pressures on the system to choose among new technologies and knowledge. If insufficient resources are available to meet all the needs of children, proposals to screen for hearing loss may end up pitted against proposals to screen for organic acidemias or against other genetic services.

Furthermore, the United States lacks adequate programs to ensure that providers can appropriately use and interpret genetic tests. Additionally, there is no adequate, comprehensive system to ensure quality, although the recent appointment of a Secretary's Advisory Committee on Genetic Testing34 may help to remedy this situation.

CONCLUSION

Genetic technologies and information are being discovered at an increasingly rapid pace. New genetic screening and diagnostic genetic testing options are becoming available. Many factors, such as enthusiasm for genetic discoveries, strong market forces, and, in some cases, consumer demand,35 are contributing to the rapid diffusion of genetic testing technologies into many different research and clinical programs and are driving genetic testing into all areas of mainstream health care practice.

It is critical that clear guidelines be developed regarding the optimal integration of genetic screening and diagnostic genetic testing. These guidelines should be based primarily on adequate and empiric evidence of benefit to the child in whom testing is being considered.36 These benefits should be considered in the context of potential risks associated with testing, including anxiety, altered family relationships, stigmatization, discrimination, loss of confidentiality and privacy, and lack of access to genetic testing, counseling, and follow-up care. Consideration should be given as to who should consent to the testing of a child and whether the testing can be delayed to the point when the child can make the decision. In some cases, the arguments in favor of testing will be strong enough to outweigh any concerns that may be raised about such testing. As the number and the quality of genetic therapies and disease prevention interventions increase, the evidence of benefit will also accrue and decisions about testing may well become easier. Meanwhile, pediatricians, who should have the child's best interests in mind, will play a critical role in making these decisions.

These are but a few of the concerns and challenges to providing access to genetic testing services for children in a culturally diverse community. Those who do so clearly must play a greater role, along with families and the community, if genetic knowledge is to be incorporated into our health care system fairly and effectively. Because genetic technology and knowledge seem likely to advance rapidly, we can no longer ignore their very real implications for the health of our children.

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