Challenges in the Use of Direct-to-Consumer Personal Genome Testing in Children

Abstract

In the target article, McGuire and colleagues (2009) found that 54% of social networkers would consider using direct-to-consumer personal genome testing (DTC PGT) for their child and that 63% agreed that parents should be able to have their children tested with DTC PGT (McGuire et al. 2009). These results suggest that the use of DTC PGT may significantly broaden the scope of pediatric genetic testing. Currently, some DTC PGT companies seem to simultaneously promote and discourage use of their services for children. For example, 23andMe suggests on its website that, its services are not “designed or intended to attract children under the age of 13” (23andMe 2009a), yet suggests that consumers can, “Add some excitement to your family reunion by comparing the DNA of children with other relatives” (23andMe 2009b). What are the ethical considerations of DTC PGT in children and how should they be addressed? Genetic testing in children is not a new challenge. Guidelines by the American Society of Human Genetics/American College of Medical Genetics (1995) and by the American Academy of Pediatrics (2001) address the use of genetic tests in children. These guidelines are based on a medical model of genetic testing that presumes the involvement of a clinician who has certain obligations to parents and children. The clinician acts as a gatekeeper, informing decisions about risk and benefit and determining whether testing is appropriate. The guidelines acknowledge that the risk-benefit ratio of much genetic information is unclear, and that in the absence of information, providers “may be obligated to avoid the possibility of harm, rather than to provide unclear benefits” (American Society of Human Genetics 1995, 1238). In contrast, the direct-to-consumer model, by definition, bypasses the medical gatekeeper and their guidance. As consumers of DTC PGT services, parents may not prioritize consideration of medical benefit to their children in the same way as parents of patients. Users of DTC PGT may include families who are not likely or able to obtain genetic testing under the traditional medical model, including families not at risk for any rare genetic diseases. For these reasons, in a DTC PGT model, considerations of medical benefit may be either absent or minimal. Outside a medical model of benefit, the key question becomes: what harms are associated with DTC PGT in children and do they differ from harms associated with medical genetic testing in children? Wilfond and Ross (2008) have suggested that genetic testing in children should be guided by parental-decision making “unless empirical social and behavioral data indicate that genetic testing is highly likely to cause serious harms to children” (1). Unfortunately, there are no empirical data on the harms of DTC PGT in children, including whether they differ from harms in a medical delivery model or whether they differ across populations and reasons for obtaining the service. Because DTC PGT shifts genetic testing from a physician-parent relationship to an institution-consumer relationship, it may be unclear who is responsible for minimizing harms. While the DTC PGT companies act as providers of the service, they do not assume the same kinds of obligations as a medical provider. Assent of the child is not required, and there appears to be no provision of information about the possible risks of genetic information to children or consideration of risk-benefit ratios. Furthermore, the scope of obligation to provide benefit is as yet unclear. We will illustrate some of the concerns raised by DTC PGT in children through two scenarios, using the services offered by 23andme as an example. These scenarios demonstrate the challenges in applying current guidelines on genetic testing in children and suggest the need to develop guidelines specific to the DTC PGT arena.