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Carrier Testing in Minors: Ethical Issues

In a previous article in this newsletter (“The Basics of Genetic Testing for CAH and How it May Benefit You and Your Family” Vol 4 Issue 1 Winter 2004-2005) we could read that 90 to 95 percent of the cases of congenital adrenal hyperplasia (CAH) are due to 21-hydroxylase deficiency (made by the gene called CYP21A2). As a consequence, genetic testing for CAH can be used to confirm the diagnosis of CAH or to identify the mutations in a person who is suspected of having CAH. Detection of an affected person allows testing of other family members for the specific mutation(s) identified. This might allow relatives to know if they are carriers of the disease.

Carrier tests are intended for healthy people who have no symptoms of a disease, but who are known to be at high risk because of a family history of a genetic disorder. To be a carrier mostly doesn’t affect the health of the carrier but could have consequences for the carrier’s offspring. In the case of autosomal recessive disorders (such as CAH) each offspring of two carrier parents has a 50 percent risk of being a carrier, a 25 percent risk of developing the disorder and a 25 percent risk of being neither carrier nor affected by the disease.

Due to the familial character of genetic diseases, when a genetic disorder is diagnosed in a family, an immediate question usually asked is whether other family members are at risk. When the relatives in question are adults, they can decide for themselves whether or not to undergo a genetic test. Children at risk, however, are dependent on others, usually the parents, for decisions about (genetic testing for) their health.

Concerns

Because of concerns that carrier knowledge at young age may be harmful, carrier testing in minors remains controversial. It has been argued that it might harm a child’s self-esteem or affect his/her self-concept, for example by reinforcing latent feelings of unworthiness. Knowing carrier status may also cause “survivor guilt” or heightened anxiety of a child. In addition, it has been argued that it might distort the family perception of a child, might lead to psychological maladjustment or stigmatization, and might lead to significant misunderstanding and consequently erroneous interpretation of the carrier status.

“Letting children decide about their reproductive
health means respecting them as humans with their
own individuality and responsibility.”

Concerns have also been raised about the potential for unfair genetic discrimination in the sphere of employment or when applying for life insurance or related products. There is however a considerable lack of empirical evidence about these potential harms. The Genetic Interest Group (GIG), a U.K.-based alliance of patient organisations which supports families affected by genetic disorders, for example considers that there are no reasons to be “…overly preoccupied with psychological considerations and the harm that knowledge of genetic disorders can cause within families. With little evidence, this seems to reflect more the fears of doctors that they will be held responsible for negative reactions, rather than the needs of families.” For the GIG, the potential psychological impact for of carrier testing is then different than for predictive or pre-symptomatic genetic testing (in which persons at risk are tested if they will develop the disease). Although the GIG also affirms that “children should only be tested when of an age to be involved in the decision,” they consider that, “Parents have the right to make an informed choice about whether or not to have their children tested for carrier status.”

The position of the GIG contrasts with existing clinical guidelines (See P. Borry et al. Carrier testing in minors: a systematic review of guidelines and position papers. Eur J Hum Gen 2006; 14 (2): 133-138). The guidelines are in agreement that children preferably should not undergo carrier testing. The child’s future autonomy tended to be the main ethical argument at stake. As carrier testing has the potential of affecting the future reproductive prospects of a child, the guidelines emphasised that the decision to test should be made by the child when he/she reaches reproductive age. This view is based on the basic ethical principle of informed consent, by which an individual can freely and voluntarily give, without external pressure, their consent to be tested after being informed of the benefits, risks, procedures, and other pertinent information relating to the carrier test. As carrier testing performed during childhood only affects the (reproductive) future of that child, the guidelines state that it is wiser to defer testing until the child is able to give proper informed consent than to acquiesce to the wishes of his parents or guardians to go forward with testing. The child’s personal consent takes precedence over the wishes of third parties, including parents, either to carry out or to refuse genetic testing. Knowledge of carrier status critically impacts future decisions concerning reproduction (e.g., carrier testing of partner, prenatal diagnosis, artificial insemination, pre-implantation genetic diagnosis, adoption, not to have children). Some guidelines also suggest that carrier testing performed during childhood also denies the child of confidentiality, a right he would receive if tested as an adult.

Parental responsibility

Many parents feel responsible for the health of their children. (see P. Borry et al. Attitudes towards carrier testing in minors: a systematic review. Gen Couns 2005; 16, 341-352). It might therefore be difficult for many parents to accept delaying the carrier test. In a study by McConkie-Rosell (Parental Attitudes Regarding Carrier Testing. Am J Med Gen 1999; 82, 206-211) most parents of individuals with Fragile X syndrome were very concerned that their child(ren) knew the genetic risk before becoming sexually active and/or should be able to marry informed of their carrier status. They appear to want this information in order to help their children adjust to the knowledge of their carrier status. The majority of the parents indicated to be very or somewhat concerned about informing and raising the children with knowledge of their carrier status. A strong belief in a parental right to make the decision regarding carrier testing in their children was found. About half of the parents felt that parents should have the right to decide when their child should be tested and informed of the result. Only 15 percent of the respondents were very concerned that making the decision to test their child would violate their child(ren)’s autonomy by depriving the child(ren) of the right not to know.

Telling and testing

Parents have argued that carrier testing in childhood might help the child to adapt to the knowledge of being a carrier slowly, while receiving the information later could be more shocking. However, the option to perform a carrier test in childhood does not take into account the alternate option to inform children about their genetic risk, without performing the carrier test in childhood.

On the one hand, this option takes into account the parental responsibility of communicating the genetic risk to their children and to support them in dealing with that risk. This underlines the familial character of genetic information and emphasizes that genetic risk information should be discussed openly in a family context. On the other hand, this also emphasizes the individual character of this information, the individual decision to undergo a genetic test, and the individual choice to share the result of the genetic test with others.

It is important that minors should be able to participate in health decisions that affect their offspring. When an adolescent understands the information given to him/her and the implications of a positive and negative carrier test for him/her, his/her partner and eventual offspring, he/she can make a decision about performing a carrier test. It is also possible that adolescents prefer to postpone the carrier test, but it is important that minors are informed about their genetic risk.

Choices and actions around sex, marriage and reproduction belong to the most personal and intimate aspects of life. Because the goal of a carrier test is situated in reproductive decisions, it is important that children, when growing up to be adults, are able to request a test personally and keep full control over that information and share the information with who they want. This should, however, not restrain parents to discuss the opportunity of carrier testing openly with their children later in life. The children should be aware of their genetic risk from a young age even though the actual testing is being postponed.

The fact that parents should delay carrier testing in order to reserve the opportunity for the child to choose among as many options as possible once he or she reaches adulthood, can be based on the fact that in caring about their children, these should be fully respected as care-receivers from their parents, but also as care-givers who are caring about their own offspring. Parents are expected take the future attentiveness, responsibility and competence of their children in caring about, taking care of and giving care to their own offspring serious. Letting children decide about their reproductive health means respecting them as humans with their own individuality and responsibility.  Parents and genetic services are invited to be supportive so that individuals at risk are informed about their genetic risk and are able to make use of the opportunities of genetic testing if necessary. The presence of severe anxieties and uncertainties in parents about the possible carrier status might be an indication for further psychological support in order to address these emotions rather than a clear indication for testing.

Carrier testing for CAH
As carrier testing only affects the individual’s reproductive health, carrier testing of incompetent children for CAH should preferably not be performed. However, carrier testing in adolescents and young adults who have undergone adequate genetic counseling, who understand the information given to them and the implications of a positive and negative carrier test, and who can participate in a carrier test without external pressure can perform a carrier test. This gives the parents the role to inform and support their children concerning their genetic risk, but lets minors participate in this decision. The research for this contribution was supported by the Eurogentest Network of Excellence of the EU, FP6- 512148.      

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To read the other side of this debate click here.
For questions or comments please email
erin@caresfoundation.org.

Pascal Borry Ph.D., works in Ethical and Legal Unit of the research project Eurogentest (www.eurogentest.org) funded by the European Commission and is involved in the Erasmus Mundus Master of Bioethics (www.masterbioethics.org).
 

Kris Dierickx, Ph.D. is associate professor and a postdoctoral fellow of the Belgian National Fund for Scientific Research (NFWO). His teaching and research focuses on the ethics of genetics and reproductive medicine.

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