Recommendation: Educating and 4 Counseling Parents of Newborns with Sickle Cell Disease and Trait The principal goal of newborn sickle cell disease screening is to reduce morbidity and mortality from sickle cell disease. This is achieved only by the provision of comprehensive health care to infants identified with sickle cell disease. Comprehensive health care includes the provision of counseling services to parents of infants with disease. A by-product of neonatal screening is the identification of newborns with sickle cell trait and newborns who have other hemoglobin diseases or are heterozygous for other variant hemoglobins. The screening program therefore has the opportunity to educate and counsel large numbers of people about sickle cell trait. Trait identification also provides a "genetic window" into the family that can result in the detection of couples at risk for having children with the disease or the identification of other family members with the disease or trait. Newborn sickle cell screening programs must develop curricula and policies for the education and counseling of parents whose infants have sickle cell disease. The program also should consider development of policies and curricula for the education and counseling of parents of infants with sickle cell trait, as well as other hemoglobin variants. The education and counseling programs for persons with trait will add considerable expense to the screening program and must be considered carefully in light of the program's principal goal of reducing morbidity and mortality from disease. Literature was reviewed by the panel related to sickle cell education and counseling. The panel concluded that there was insufficient documentation to support a definitive guideline in this area but felt it was important to provide recommendations for education and counseling because of their direct relationship with the screening process and the accepted principle that carriers of genetic disorders should be informed of their condition and be offered counseling. These recommendations are detailed below. Sickle cell counseling can be defined as consisting of two discrete components: education and decision-making assistance. Education The goal of sickle cell education is to have the person understand the essential facts about sickle cell disease and sickle cell trait. Appropriate objectives are required when designing the content of the education session. Objectives also are essential for the development, implementation, and evaluation of the educational program. The educational program for parents of newborns identified with sickle cell disease or trait should include information on the following topics: The difference between sickle cell trait and disease. ■ The risk of having a child with sickle cell anemia based on the parents' hemoglobin genotype. The health status of persons with sickle cell trait. The life span of persons with sickle cell trait. ■ The health problems associated with sickle cell anemia. ■ The variability in health problems among persons with sickle cell anemia. ■ The family planning options available to individuals with sickle cell trait and disease. ■The prevalence of sickle cell trait and disease in various racial and ethnic groups. Instructional Techniques The curriculum should be interactive and have scientific facts and concepts simplified and expressed in lay language, graphics to illustrate facts and concepts, and pre- and post-tests. The information to be transmitted is complex. That complexity, coupled with the wide range of educational backgrounds, interests, and needs of those receiving the material, mandates the use of instructional techniques to ensure that there is a reasonable understanding of the information presented. Scientific jargon must be avoided. The greater the number of new or difficult words or terms used, the greater the likelihood that the individual will not grasp all the salient points. Use of graphics provides a second instructional tool. Visual aids effectively augment the spoken word. Written Materials During the educational session, the person must be given literature to supplement the information presented orally. Ideally, at least two types of literature should be provided: (1) a full description of the material covered, including a copy of all graphics and (2) a summary of the highlights or key points in the form of a fact sheet. Pre- and Post-Testing Using pre- and post-tests during educational sessions is beneficial for several reasons. Pre-testing can reveal misconceptions and inform the educator about the person's knowledge of the material. Post-testing can aid in assessing the effectiveness of the session and provide the educator with an opportunity to reinforce or clarify specific material. The post-test also provides an objective mechanism to assess the effectiveness of the session. Monitoring results of pre- and post-test performance by those responsible for the program should enhance effectiveness by identifying deficiencies. During the session, the educator will present many new concepts and facts in a short period of time. It is unrealistic to expect that all people will fully comprehend and remember all presented material. The written material should help clarify aspects of the oral presentation. Literature also should assist the individual in explaining or discussing the information with other members of the family after the session. Written material also is valuable as a resource for those individuals who may wish to refer to the material months or years after the session. Decision-Making Counseling Counseling designed to assist in decision making provides objective information to individuals at risk of having a child with sickle cell disease. The information enables the individuals to make informed decisions. The educational components of counseling are similar to those discussed above. In addition, the session should include specific information on the natural history of the type of sickle cell disease that may affect offspring and the resources that will be required to care for an affected child. Counseling for decision-making assistance must always be nondirective and objective. Counselors must never introduce personal biases or offer specific recommendations. Counseling and education of parents of a child with sickle cell disease must be done in a kind and sensitive manner, as the parents frequently have feelings of grief, guilt, anxiety, or anger. Session Goals The goals of sickle cell disease counseling are to (1) provide an understanding of the inheritance of sickle cell disease and (2) provide those counseled with the information needed to make family planning decisions. The counselor must be sensitive to the wide range of feelings, attitudes, personal and cultural values, and religious beliefs that can surface when genetic counseling is offered; they can affect marital and family planning decisions. Some of these factors include: attitudes about control over one's life, a desire to have children, views on potential for a cure, attitudes about taking risks, ability to cope with adversity, religious beliefs, and positions taken by significant others. These beliefs and values may give rise to uncertainty or cause conflicts in the value systems of individuals faced with difficult personal decisions. These persons can benefit enormously from the assistance of well-trained and empathetic counselors. Because the decisions individuals must make can affect them for the duration of their lives, it is critical that they base their decisions on selfdetermination and self-interest rather than on the personal views of the counselor or on what might be considered societal norms. Session Content During counseling sessions, the counselor should employ strategies and techniques designed to help the person fully understand all the factors that are personally meaningful regarding sickle cell-related marital and family planning decisions. The educational aspects have been described earlier. Individuals with sickle cell trait and disease who are of child-bearing age have specific family planning decisions to make related to their sickle cell status. Examples of these types of decisions include whether or not they should marry a person who has sickle cell trait. For couples where both members have a sickle cell gene, the couple must decide if they want to take the chance of having a child with sickle cell disease. The previously cited personal values and attitudes may influence the answers to these questions and may influence reproductive decisions. One counseling session may not be adequate to provide those counseled with a complete understanding of the genetic material presented and its implications. Persons should be told that they can have additional sessions to help them understand the issues. Counseling the Parent(s) of a Newborn with Sickle Cell Disease Genetic counseling must be provided to all parents of infants with sickle cell disease. The content and conduct of these counseling sessions are similar to those described in the section on decision-making counseling. In addition, these sessions must stress the importance of health care maintenance, compliance with prescribed prophylactic penicillin, and the prompt medical evaluation of the infant at times of acute illness (see Medical Management section of this guideline). Ideally, this counseling should be provided by the physician responsible for medical management of the infant. Individuals providing these counseling services must be sensitive to the parent's potential feelings of anger or guilt and be supportive as the parent learns to cope with the child's illness. Resources to Provide Educational and Populations currently being screened for hemoglobin S include: African-American newborns in more than 40 States (all newborns in some States); 6-month-old infants to 18-year-old persons whose families receive Medicaid (in all States); all persons requesting testing in many cities (by community sickle cell organizations and some comprehensive sickle cell centers); African-American pregnant women (by obstetricians); and African-American patients receiving medical care through some health maintenance organizations (HMOs) and private physicians. The previously described educational curriculum should be offered to all adults with sickle hemoglobin and to the parents of all infants with sickle hemoglobin identified by the newborn screening program. Far fewer individuals will require the decision-making component as illustrated by the following example: for every 1,000 African-American infants screened, there will be about 80 identified with sickle cell trait, as the prevalence of the sickle gene in this population is about 8 percent. Education will be needed by all parents of these infants. However, only 3 to 4 of the 80 couples will require decision-making counseling because both parents have sickle cell trait. The volume of counseling needed, therefore, poses two key questions: 1. Are there enough geneticists and genetic counselors certified by the American Board of Human Genetics to meet the need? 2. If not, how can this need be met? First, there is unquestionably an inadequate supply of board-certified personnel. The 1992-1993 membership directory of the American Society of Human Genetics lists 631 genetic counselors in the United States. Zinberg and Greendale (1991) report 103 American Board of Medical Genetics (ABMG) certified or eligible counselors for New York State (16 percent of the total number of counselors in the United States) and estimates the need in New York State at 154.5 counselors. If 16 percent of all counselors are in one State, New York (Zinberg and Greendale, 1991), and that number is considered to be inadequate, then it can be concluded that there is an inadequate number of counselors to meet the need across the country. How can the need be met? The answer may lie in developing a cadre of individuals who are trained to provide only the educational component and to refer only those persons needing the decision-making component to trained health care professionals. The rationale for this approach is supported by the work of several investigators (Grossman, Holtzman, Charney, et al., 1985; Loader, Sutera, Waldon, et al., 1991; St. Clair, Rosner, and James, 1978; Whitten, Thomas, and Nishlura 1981). These investigators documented that people achieved high scores on test questions after attending an educational session on sickle hemoglobinopathies (Table 16). Whitten and colleagues (1981) described the education these counselors received. Others have described various instructional techniques used for educational counseling (Table 17) (Miller, 1979; Rowley, Mack, and Lawrence, 1984; Whitten, Thomas, and Nishlura, 1981). Table 18 presents two small studies on the impact of genetic counseling in sickle hemoglobinopathies. Although neither study found |