Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

PURPOSE: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. METHODS: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed. RESULTS: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique. CONCLUSIONS: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.

CF carrier testing in a high risk population: anxiety, risk perceptions, and reproductive plans of carrier by "non-carrier" couples.

PURPOSE: The risk perceptions, psychological status and reproductive plans of 52 carrier by "noncarrier" (mutation screen negative) couples is the subject of this report. METHODS: Cystic fibrosis (CF) carrier testing was offered to relatives of individuals with CF. RESULTS: In this population testing was not associated with any significant adverse psychological effects, reproductive uncertainty, or inaccurate risk perceptions. CONCLUSIONS: The results of this study have important implications in light of the recent NIH CF Consensus Panel recommendations that CF carrier testing be offered to all high risk adults and all couples planning a pregnancy or seeking prenatal testing.

Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives.

We report on the psychosocial and knowledge outcomes of two different approaches to cystic fibrosis (CF) gene pretest education and carrier testing offered to 288 proactively recruited first-, second-, and third-degree relatives of people with CF. One group received pretest education and gene testing in a clinical setting from a certified genetic counselor. The other group received pretest education in their homes from a specially prepared pamphlet and were asked to send in a buccal cell sample for genotyping. No statistically significant differences between groups were noted on measures of CF knowledge, anxiety, and positive or negative affect, either while waiting for their test results or within a few weeks after they had learned their results. At both measurement points, participants who had received home education and testing reported that the testing was more convenient, but that they had received less information than they would have liked, and they were more likely to report being confused by the testing, although their level of CF knowledge was comparable to that of people who had been seen by a genetic counselor. In light of the increasing interest in home-based medical testing of all kinds, this study suggests that CF carrier testing in the home warrants further consideration as one possible approach to facilitating access to testing.

Health communication on the Internet: an effective channel for health behavior change?

This article presents a theoretical rationale for using the Internet to conduct persuasive public health interventions. Through an examination of the conceptual bases of persuasion, it is posited that the World Wide Web and other Internet-based resources have many of the characteristics necessary for persuasive communication and may, in fact, constitute a hybrid channel that combines the positive attributes of interpersonal and mass communication. The notion that the Internet features many of the persuasive qualities of interpersonal communication makes it a prime candidate for the application of key behavioral science theories and principles to promote healthier behaviors. The broad reach that the Internet shares with many mass communication channels indicates an economy to Internet-based efforts to communicate with large audiences. It is concluded that if the Internet can be used for persuasive health communication and its reach continues to expand, it is time for public health professionals to explore the design and evaluation of Internet-based interventions directed at health behavior change.

Acceptance of home and clinic-based cystic fibrosis carrier education and testing by first, second, and third degree relatives of cystic fibrosis patients.

We contacted and offered free cystic fibrosis (CF) carrier education and testing to the first, second, and third degree relatives of individuals with CF followed at a large Southeastern US CF Clinic. Relatives were offered CF carrier education and testing either in their homes or in a genetic counseling clinic. Overall, of 514 relatives offered free CF carrier education and testing, 299 (58%) accepted. Significantly more (67%) of those offered education and testing in their homes accepted than those offered education and testing in a genetic counseling clinic (45%). Regression analyses identified several factors, including education, income, gender, perceived chance of being a carrier, and perceived chance of having a child who is a CF carrier, as predictors of acceptance of education and testing in both home and clinic sites. A smaller set of factors was identified that predicted acceptance of education and testing unique to each site. Within the limits of this study and its design, even when CF carrier testing is offered free of charge, including education and testing in the home, acceptance of education and testing, while higher than in general population samples, is not universal among at-risk relatives. Several factors which may have contributed to the observations reported in this study are discussed.

Proband and parent assistance in identifying relatives for cystic fibrosis carrier testing.

To identify, contact, and offer free cystic fibrosis (CF) carrier education, testing, and genetic counseling to the first, second, and third degree relatives of individuals with CF, study personnel contacted probands or the parents of minor probands requesting assistance in identifying relatives. We requested family pedigrees, including names, addresses, and phone numbers and if necessary a saliva sample for determination of the specific CF mutations in the family. Two hundred three families of 220 probands being followed at a large CF clinic in the Southeastern United States were eligible for inclusion in the study. Of the 203 families 109 (53.7%) assisted by providing contact information on relatives and, when necessary, a saliva sample for mutation analysis. An additional 33 (16.4%) agreed to assist but did not provide either or both contact information or saliva samples. Sixty-one (30.1%) declined to provide assistance. Thirteen percent of the probands/parents wanted to talk with relatives before providing contact information. A logistic regression model predicting proband/parent assistance is provided. This study suggests that the active outreach method used here to identify at risk relatives to offer them CF carrier testing resulted in somewhat lower proband or parent assistance than reported by other similar approaches. The strengths and weaknesses of this approach, including comments by probands and parents on the method, are discussed.

Addressing women's breast cancer risk and perceptions of control in medical settings.

Many women with family histories of breast cancer deal with two distinct but related issues: their objective physical risk and the emotions this risk engenders. Studies indicate that approximately 70% of African American and white women are concerned about their chances of developing breast cancer someday and perceive themselves to be at risk. Health care providers, including psychologists, need to be aware of the special needs and psychosocial concerns of high-risk women with family histories of breast cancer, since perceptions of breast cancer risk influence screening practices. Providers need training in understanding the significance of specific family patterns of breast cancer, screening guidelines appropriate for women at risk, and the benefits and risks of available prevention options, including genetic screening. Delivering accurate information about both established risk factors known to elevate personal risk, such as age and family history, and factors which women associate with breast cancer, such as bumping and bruising a breast, smoking, and oral contraceptive use, is essential for promoting accurate risk perceptions and appropriate screening schedules.

CF carrier testing: Experience of relatives.

Consensus exists that genetic counseling and CF carrier testing should be offered to individuals with a positive family history of CF. To learn more about their experience with genetic counseling and testing we conducted a series of structured telephone interviews and focus group discussions with individuals and couples who had undergone genetic counseling and carrier testing because of a family history of CF. Traditional genetic counseling appears to have been effective for this population. Subjects generally report having a positive counseling experience and few difficulties upon learning their carrier status. Subjects were quite knowledgeable about CF and their carrier risk and were highly motivated to seek testing. They may not be representative of all individuals with a family history of CF however. For carriers, concerns about whether and when to have children tested, and concerns about insurance implications of carrier status may emerge sometime after the initial counseling. Strategies for addressing these concerns and for providing efficient and effective education and genetic counseling for people with a family history of CF need to be developed.

The Human Genome Project and health behavior and health education research.

The Human Genome Project (HGP) is a multinational initiative to map and sequence the human genome. This major biological research effort, estimated to take 15 years and cost $3 billion, should have significant implications for public health generally, and for health behavior and health education research in particular. It is anticipated that the HGP research will lead to expanded (1) newborn genetic disease screening, (2) prenatal diagnoses and (3) trait carrier screening. The HGP also is likely to lead to presymptomatic screening of people with late onset genetic diseases, as well as screening for genetic-based susceptibility for common disease morbidity and mortality mediated by either or both life style and environmental factors. These potential developments have raised ethical, legal and social questions, and have highlighted the fact that research is needed on individual, organizational, population and governmental use of and response to these developments. Central to the expanding role of genetics in public health will be health behavior and education research. Such research could contribute to an effective and humane applied human genetics.