Carrier Testing - CARES Foundation, Inc.

Winter 2007	CARES Foundation, Inc.

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Carrier Testing in Minors:
Decision-making within a Familial Context

Sharon F. Terry, M.A.

Issues in genetic testing are all about ‘family’, since genetics reveals information about the whole family. As genetic information is integrated into family’s lives, there are many decision-making points. Understanding carrier status, particularly for children, must include psychosocial, familial and community benefits. Decisions must reflect a broad understanding of health and should take place in a family-centered, community-based, discernment process. This article addresses carrier testing of children from the family’s point of view. Many decisions affecting health are made using something that is sometimes called the “medical model.” In the medical model, healthcare providers make definitive judgments about diagnosis and treatment. It is expected that families will make decisions based largely on the medical community’s assessment. Families who spend a great deal of time seeing specialists, making many decisions about health, tend to move away from a narrowly defined “medical model.” For these families, health is more than the presence or absence of a disease or diagnosis. In fact, families who have experienced disease have a very different sense of disease, sometimes embracing it as a ‘normal’ part of life. “Decisions about carrier testing in children need to be made by evaluating not only the benefit to the child being tested, but to the family as a whole.” When making decisions, families do not shy away from considering all aspects of a child’s life in the present and in the future. Families do not make decisions based solely on whether or not medical treatment is available or necessary. There are other benefits they consider, and since there is no “medical treatment” or even perhaps a medical reason to know, carrier testing stretches the medical paradigm. Moreover, there seems to be a double standard: individuals and families may decline carrier and other types of genetic testing primarily because of psychosocial concerns such as fear of discrimination or stigmatization rather than lack of medical benefit, but the decision to choose carrier testing for children based on psychosocial benefits is not equally regarded. While medical benefits can be easily identified by health professionals, psychosocial benefits may be more obvious and recognizable by the family. Therefore, if psychosocial benefits are given the same weight as medical benefits, then the opinion of family members should be equally considered during the decision-making process. The unique position of parents to make these decisions should not be usurped or disregarded by healthcare providers. Decisions about carrier testing in children need to be made by evaluating not only the benefit to the child being tested, but to the family as a whole. There are differences between the medical community’s value system and the family’s, and this can result in a dilemma. Guidelines for testing in general consider the bioethical principles of autonomy, beneficence, and non-malfeasance. Children do not have complete autonomy and their parents often ultimately decide whether the benefits and risks are acceptable on their behalf. Families generally do not use these principles in their decision-making process, nor are they measuring risks and benefits by psychological metrics. Instead, families think strengthening relationships is more important than following rules or principles. In addition, autonomy is a western value, and individuals who share genetic mutations experience a “kinship of affliction” and tend to value family and even the ‘disease’ community above the individual’s right to make decisions about testing. When the medical community makes a decision about an issue such as carrier testing in children, they do so after considering ‘harm.’ It is probable that families, particularly those who have experienced genetic diseases, define harm differently after their experience with disease. Furthermore, the assumption that a positive carrier status will lead to devastating psychosocial consequences for the child are not supported by testimony from families. It is sometimes said that parents may confuse the best interests of the child with their own interests. But when parents make decisions within the family framework, the parents are placing a higher value on the child, nurturing him or her in the present. If the benefits of carrier testing will not be substantially decreased by postponing testing until the child can comprehend some of the benefits or risks of testing, delay of carrier testing should be strongly considered in order to include the child in the decision-making process. Sharing of information between families and health professionals is important as families make decisions that affect the future of their children. “There are differences between the medical community’s value system and the family’s, and this can result in a dilemma.” It is thought that one of the major benefits of genetics is the ability to someday prevent disease . Medicine is expected to become tailored to the individual and allow early prevention and intervention. It may also be true at some point that being a carrier of a disease might have medical or other implications. Understanding carrier status can give individuals information needed to make reproductive decisions, and although children do not need reproductive information, there are some families who believe that a child should grow up knowing their carrier status. Certainly, families who have children with genetic diseases have seen those diseases integrated into their lives with perhaps less trauma than those who learn about it more suddenly later in life. Carrier testing of children is not a decision that is lightly made. To help limit controversial or unethical uses of carrier testing of children, many things need to be considered including maturity level of the child, presence of a strong family support system, and access to other support services.
		Keep Reading → To read the other side of this debate click here. For questions or comments please email erin@caresfoundation.org.

Sharon Terry is President and CEO of the Genetic Alliance, a coalition of over 600 disease specific advocacy organizations working to increase capacity in advocacy organizations and to leverage the voices of the millions of individuals and families affected by genetic conditions. She is also the founding Executive Director of PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE).

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