Provision of genetic services for hearing loss: results from a national survey and comparison to insights obtained from previous focus group discussions.

Hearing loss is a common sensory deficit and more than 50% of affected individuals have a genetic etiology. The discovery of 40 genes and more than 100 loci involved in hearing loss has made genetic testing for some of these genes widely available. Genetic services for deafness are also being sought more often due to the early identification of hearing loss through newborn screening services. The motivations for pursuing genetic testing, and how genetic services are provided to the client may differ among individuals. Additionally, information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults. This study aimed to follow up on focus group studies published earlier with a quantitative survey instrument and assess the preference of consumers for provision of genetic services. We conducted a national survey of hearing and deaf parents of children with hearing loss and of deaf adults. Data was compared and analyzed by hearing status of the participant, their community affiliation and the genetic testing status using nominal logistic regression. Consistent with our focus group results, the survey participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. Statistically significant differences were noted in the preferred choice of provider based on the genetic testing status. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss. This data should help providers in clinical genetics keep patient preferences at the helm and provide culturally competent services.

Impact of genetic advances and testing for hearing loss: results from a national consumer survey.

Hearing loss is a common neuro-sensory deficit; nearly 50% of children with hearing loss have a genetic etiology. With the discovery of 40 genes and more than 100 loci involved in hearing loss, genetic testing is becoming more widely available. The information obtained through genetic testing can be perceived and used in different ways by parents of deaf children and deaf adults, based on their prior knowledge and understanding of these advances. It is therefore important to clarify the feelings of these potential consumers towards genetic services for hearing loss and understand their goals for genetic testing. The present study evaluates the feelings of consumers towards the advances in the genetics of hearing loss, the motivations for pursuing testing, and the perceived impact testing may have on their lives. We surveyed 808 parents of children with hearing loss nationally and 156 young deaf adults at Gallaudet University. In this study, learning the etiology of the hearing loss was the most commonly cited motivation for pursuing genetic testing and for parents was the most commonly cited outcome that genetic testing may have on their children's lives. Culturally Deaf respondents were less likely to believe that genetic testing will impact their lives or their children's lives and were less likely to report positive feelings about advances in the genetics of hearing loss. Cultural affiliation and genetic testing status, rather than hearing status, contributed more to the participants' responses.

Mammography screening after risk-tailored messages: the women improving screening through education and risk assessment (WISER) randomized, controlled trial.

AIMS: A randomized trial investigated the impact of risk-tailored messages on mammography in diverse women in the Virginia Commonwealth University Health System's gynecology clinics. METHODS: From 2003 to 2005, 899 patients > or =40 years of age were randomized to receive risk-tailored information or general information about breast health. Multiple logistic regression analyses summarize their breast health practices at 18 months. RESULTS: At baseline, 576 (64%) women reported having a mammogram in the past year. At 18-month follow-up, mammography rates were 72.6% in the intervention group and 74.2% in the control group (N.S.). Women (n = 123) who reported worrying about breast cancer "often" or "all the time" had significantly higher mammography rates with the intervention (85.0%) vs. the controls (63.5%). No significant differences existed in clinical breast examination, self-examination, or mammography intentions between the two study arms. However, intervention women with lower education reported significantly fewer clinical breast examinations at follow-up. CONCLUSIONS: The brief intervention with a risk-tailored message did not have a significant effect overall on screening at 18 months. However, among those who worried, mammography rates in the intervention group were higher. Individual characteristics, such as worry about breast cancer and education status, may impact interventions to improve breast cancer prevention practices.

Duration of an intervention's impact on perceived breast cancer risk.

This study explored risk perceptions after breast cancer risk appraisal. The study involved a randomized trial of Women's Health clinic patients (>or= 40 years old). Primary outcome was perceived breast cancer risk at baseline, 1 month, 6 months, and 18 months. Perceived breast cancer risks were higher than actual calculated risks at baseline. At baseline, 45% reported moderate/strong risk and 43% reported lower-than-average risk; 53% said that their risk was lower than 15%. Mean perceived lifetime risk was 31 out of 100. Throughout follow-up, the treatment group reported lower risks by all measures, as compared to controls. However, for African American women, perceived risk "out of 100 women" did not change. A brief health risk appraisal tends to lower breast cancer risk perceptions for at least 18 months, but the impact may vary by race/ethnicity. These findings could affect health behaviors, such as annual mammograms, which are influenced by perceived risk.

The impact of family history of breast cancer and cancer death on women's mammography practices and beliefs.

PURPOSE: To summarize the impact of a family history of breast cancer on mammography practices and beliefs. METHOD: Survey data concerning breast health practices and beliefs were utilized for a cross-sectional analysis. Participants were 899 racially diverse nonpregnant women 40 years and older without breast cancer. The impact of various aspects of cancer family history on mammography, perceived barriers to and benefits of screening, and perceived breast cancer risk was assessed. RESULTS: More women with a first-degree relative with breast cancer reported a mammogram within the past year and rated their breast cancer risk higher. Death of a first-degree relative impacted the belief that breast cancer can be cured with early detection. Degree of relatedness of affected relative impacted mammography practice and risk perceptions. CONCLUSION: Family history of breast cancer impacted mammography adherence, beliefs about outcomes with early detection, and risk perceptions. Breast cancer death in a family may be a better predictor of beliefs about breast cancer detection and cure than family history of cancer alone. These findings have implications for how screening recommendations and risk information are communicated to patients with different familial cancer experiences.

Recruiting diverse patients to a breast cancer risk communication trial--waiting rooms can improve access.

Low participation among underserved populations in health research constrains progress in public health practices. From 2003 to 2005, Women's Health Clinic patients at the VCU Health System were recruited to a trial investigating breast cancer risk communication. In secondary analyses, we examined dimensions of the recruitment of these diverse women. The sample characteristics (age, insurance, race and previous mammograms) were compared to the overall clinic. Of recruitment attempts for eligible women, 45% consented; of those who declined, the top cited reasons were lack of time (40%) and lack of interest (18%). Of 899 participants, 35% qualified for the indigent care program, compared to 31% of the overall clinic (P<0.001). Forty-five percent of participants were African American, compared to 54% of overall clinic patients (P<0.001). Participants were younger (50 vs. 53 years, P<0.001) than the overall clinic population. Nonrepresentative enrollment of patients in clinical trials is common and could lead to suboptimal applicability of findings. Although there were statistically significant race and age differences between the study sample and the overall population, we demonstrate that waiting room recruitment can engage diverse women in a clinical trial and cancer risk communication.