Current recommendations on predictive genetic testing for conditions in children that manifest later in life without the availability of curative treatment seem to favor the autonomy of the child (ie, waiting until the child is old enough to make the decision for himself or herself).1–3 In their article, Tarini et al4 analyzed the responses from 1342 parents who participated in the survey (response rate: 71%). They used amyotrophic lateral sclerosis as an example of an incurable disease. One third of the parents definitely wanted to know the diagnosis, another 30% were leaning toward testing, and only one third were not interested in early diagnosis. Many academic institutions do not perform testing for such diseases on children because treatment is not indicated until the disease manifests. In our experience, we have found that if parents are interested in finding the diagnosis for their children, they will bypass...
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Should children be tested to detemine carrier status?
Tarini et al (1) and Trott and Matalon (2) have suggested that childhood testing for adult-onset hereditary disease be reconsidered. Genetic testing of minors for another reason, to determine carrier status, also deserves reappraisal. Similar to testing for adult-onset disorders, it has been generally discouraged by professional organizations, although viewpoints have differed regarding the ethics involved and the psychosocial effect such testing might have on children (3-8). Now that genetic testing can be obtained privately through self-referral, physicians are no longer gatekeepers to this service. By arranging for testing, however, pediatricians can retain their counseling role and exercise a positive influence on the use and interpretation of test results.
Parental requests for carrier determination may arise out of a desire "to help their children adjust to the knowledge of their carrier status" (9, p. 209). But parent and child could differ radically in the meaning and implications the same information has for them and, consequently, in their notion of how best to adjust. Parents might interpret an offspring's risk as much higher than would the child because of a particular cognitive error known as the availability heuristic (10).
This shortcut method of reasoning makes unlikely events that have actually happened, and are therefore more available to consciousness, seem more likely. Those who have personally experienced a rare event are prone to see the future probability of the event as substantially higher than a purely objective estimate would indicate. Thus, if making this error, parents who have experienced the birth of an affected child will perceive the likelihood of a grandchild being affected as unacceptably high, irrespective of any computed risk factor. They may wish to protect their daughters at all costs from the ordeal they themselves are experiencing, exerting undue pressure upon the child's reproductive hopes, dreams, or plans.
The trauma associated with their own childbearing experience can even cause them to view parenting, in general, as too risky to "take the chance" of bearing children. This can be the case whether carrier testing returns a positive result or is unable to return a confident negative result. One or both parents might, for instance, exert pressure toward a life without children, or without biological children, which could lead to foreclosure of child-bearing possibilities for their offspring. Such an influence would place constraints on a child's current self-concept, later decision making, and freedom in selection of a marital partner (11). It is therefore crucial that the physician help all family members examine the meaning and implications various test results could have.
Accordingly, testing in and of itself, is neither good nor bad. Rather, it is the meaning of the test and test results within each particular family context that determines how genetic testing might affect minor children (12). The importance of carrier determination lies not in mere information, but in the way that information "maintains or alters how the individual views himself [or herself] both as an integral person and as a social creature" (13, p. 167).
Teaching responsible reproductive behavior is a laudable parental goal. But, when parents invest possible carrier status with great salience, negative implications, and fear, they may come to feel that the end (avoiding the disorder in the next generation) justifies the means (depriving adolescents and young adults of control over their own future reproductive decision making). While rooted in loving concern for the lives of their children and potential grandchildren, an overly zealous effort to curtail the risk as they perceive it may move parents to act in a counterproductive manner.
When asked to facilitate carrier determination testing for a child, the discerning physician will obtain a baseline knowledge of the attitudes of each parent and the minor involved. One useful question might be, "If the test indicates that your child does carry disorder X, how would that affect your feelings about her bearing children?" Parents who have themselves experienced chance turning against them through the birth of an affected child, may indicate a desire that their daughter would avoid childbearing. If so, they could be led to consider the fact that difficult decisions must be self-motivated if they are not to cause potentially harmful distress.
Research in educational psychology has demonstrated that autonomous control is a significant characteristic of motivated decisions. Control promotes interest, confidence, and self-worth (14, pp. 222-227). Preempting the personal choice of future adults is a route fraught with hazards. At one extreme, youths might react with complete denial of any desire for children of their own. At the opposite extreme, they may rebelliously disregard any and all risks associated with sexual activity.
Physicians are uniquely situated to mitigate pressure on children by helping parents find a way to facilitate a child's adjustment and yet avoid usurping control over reproductive decisions that, in the future, will rightfully belong to their child.
References
1. Tarini BA, Singer D, Clark SJ, Davis MM. Parents' interest in predictive genetic testing for their children when a disease has no effective treatment. Pediatrics. 2009;124(3). Available at: www.pediatrics.org/cgi/content/full/124/3/e432
2. Trott AA, Matalon R. When should children be tested for genetic diseases? Pediatrics. 2009;124(4). Available at: www.pediatrics.org/cgi/content/full/124/4/e807
3. American Society of Human Genetics, Board of Directors; American College of Medical Genetics, Board of Directors. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995;57(5):1233–1241
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9. McConkie-Rosell A, Spiridigliozzi GA, Rounds K, Dawson DV, Sullivan JA, Burgess D, Lachiewicz AM. Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. Am J Med Genet A. 1999;82(3):206–211.
10. Tversky A, Kahneman D. Availability: a heuristic for judging frequency and probability. Cogn Psychol. 1973;5(2):207–232
11. Kay E, Kingston H. Feelings associated with being a carrier and characteristics of reproductive decision making in women known to be carriers of X-linked conditions. J Health Psychol. 2002;7(2):169–181
12. McConkie-Rosell A, Spiridigliozzi GA. "Family matters": a conceptual framework for genetic testing in children. J Genet Couns. 2004:13(1): 9–29
13. Sorenson JR. Some social and psychologic issues in genetic screening. In: Bergsma D, ed. Ethical, Social and Legal Dimensions of Screening for Human Genetic Diseases. New York, NY: Stratton; 1974:165-184
14. Paris SG, Turner JC. Situated motivation. In: Pintrich PR, Brown DR, Weinstein CE, eds. Student Motivation, Cognition, and Learning: Essays in Honor of Wilbert J. McKeachie. Hillsdale, NJ: Lawrence Erlbaum; 1994:213-237
Conflict of Interest:
None declared