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Except for newborn screening programs which are legislatively mandated, participation in a genetics program is voluntary, and predicting who will use genetic services can be challenging. There are few emergencies in the field of genetics when establishing a diagnosis will make a significant difference in medical care. In such cases, most families will request or agree to a genetic consultation. Parents of babies with life threatening multiple congenital anomalies, for instance, often agree to genetic testing in an effort to establish a diagnosis and prognosis so they can make informed treatment decisions. Patients or families who request a genetic consultation are also likely to follow through with the referral. However, for other patients, the decision to pursue a genetics referral will depend on a number of factors.

If a child is born with spina bifida or pyloric stenosis, the surgical needs of the infant may overshadow all other concerns. In such cases, talking to the family about the genetics of their child's condition may not be helpful until after the surgery has been completed and their child's health is assured. Unless the parents specifically want information about the cause of their child's birth defect, it may be prudent to delay making a referral to a genetics clinic until the immediate crisis is over. Other parents may not be convinced of the need for a genetics referral until their child shows signs of developmental delay. It is at this point in time that families may be more receptive to a genetic consultation and more likely to follow through with a referral.

People often seek a genetics referral when they, or members of their family, begin to think about having more children. The mother of a child with Down syndrome may seek counseling as her son begins making family plans; a young couple with a mentally retarded son may finally decide to pursue testing when a sister becomes pregnant; a young man may pursue presymptomatic testing for HD when he begins making plans to marry or raise a family.

THE HEALTH BELIEF MODEL

There are many factors that come into play when a person decides to pursue a genetic evaluation. Some of these factors can be predicted by a modified version of the Health Belief Model which was proposed by a group of social psychologists in an attempt to explain people's health related behaviors1. Janz et al. believe that people's health choices are based on (1) their subjective perception of the risk of contracting a condition, (2) their feelings concerning the seriousness of contracting an illness, (3) the perceived benefits of following a specific recommendation, and (4) the potential negative aspects of a particular action such as the expense, side effects, time constraints and inconvenience. It was also suggested that some stimulus was necessary to trigger the decision making process. The trigger might be internal (e.g., physical symptoms) or external (e.g., a mass media campaign, interpersonal interactions, or a reminder postcard from a health care provider).

Becker and his colleagues modified the Health Belief Model to identify the psychosocial factors associated with voluntary participation in a screening program designed to identify Jews of Ashkenazi descent who carry the gene for Tay-Sachs disease2. In this study, the reason for testing was not to avoid personal illness, but rather concern about the health and welfare of future children. The perceived severity was not of contracting the disease itself, but the impact of knowledge of carrier status on the participant's future family plans.

The results of this study showed that the people who were most likely to participate in a Tay-Sachs screening program where those under the age of 35 who wanted to have children and who felt that there was a moderate to high probability that they carried the Tay-Sachs gene. Nonparticipants were less likely to want additional children or to think that their chances of carrying the gene were high. Others who chose not to pursue testing desired more children but felt that knowing they were a carrier would adversely impact their subsequent reproductive decisions.

Based on the results of this study it seems reasonable to conclude that the three variables: motivation to have children, perceived susceptibility, and perceived severity, play an important part in a person's decision to pursue carrier testing. Members of a high-risk group, for example, are most likely to participate in a carrier testing program during their childbearing years. If you are working with a couple in their 20's and they are ambivalent about testing, it may be because they believe the risk of being a carrier is low, or they are concerned about the stigma attached to being a carrier, or they are worried about how this knowledge might affect their future family plans.

LEVELS OF ANXIETY

Levels of anxiety can also be used to predict health behaviors. As people contemplate their health choices, there is an optimal level of fear or motivation they must feel before they take action. In Becker's study, for instance, people who thought their risk of carrying the Tay-Sachs disease gene was low were unlikely to pursue carrier testing. Likewise, if parents do not recognize that their child is developmentally delayed, they are unlikely to seek out evaluation services or to follow through with recommendations.

Based on past studies it appears that a moderate level of fear or motivation is necessary before a positive response to a referral can be expected. However, if the level of fear is too high, a person may deny the relevance of a particular finding and avoid thinking about the subject. This may occur if parents perceive that their child's abilities are significantly delayed and they do not want to have their worst fears confirmed. A woman who finds a breast lump may put off being examined if she believes that a diagnosis of cancer would be highly disruptive to her life.

An approach to use when working with parents who do not recognize that their child may have a problem is to ask them how they think their child's abilities compare to the abilities of other children of similar age. Ask if they have any special concerns about their child, or get permission to do a screening test and go over the results with them. Provide parents with concrete measures of their child's abilities, especially if you are only working with one parent who must share this information with a spouse. It might also be helpful to prioritize the child's needs. If the parents are reluctant to proceed with a comprehensive evaluation, choose one area of concern, such as speech, and work to coordinate services for the child in this particular area. As the parents become more comfortable with you and the idea that their child may need special services, further testing may be possible. In all cases, acknowledge the parents' role in making decisions about their child's care.

Individuals who are experiencing high levels of anxiety may find it hard to follow through with recommended evaluations. Not keeping appointments may be your first clue that the patient or family is ambivalent about obtaining information. When working with such families, it may be helpful to break down seemingly overwhelming tasks into a series of small steps, and reduce or eliminate barriers that might prevent them from following through with an appointment. It may also be helpful to alert the genetics center staff so that extra effort can be made (e.g., repeat phone calls to confirm the appointment and answer questions, or scheduling a visit after hours) to assist these families in keeping an appointment.

Another coping strategy used by patients and families experiencing a high level of anxiety is to deny the legitimacy of the practitioner providing the information. If the practitioner's opinion is devalued, the patient can disregard the practitioner's recommendations. Individuals who choose this coping strategy are usually very angry and express feelings of frustration and betrayal. In such cases it is wise to remain neutral and to simply acknowledge their anger. Emphasize the patient's autonomy and control over the situation. Look for a middle ground on which you and the patient can agree and always leave the patient or the parents with the option to change their mind3.

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