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PKU DISEASE KNOWLEDGE AND HEALTH LOCUS OF CONTROL
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| Phenylketonuria (PKU) is a treatable inborn error of metabolism that occurs in approximately 1 in 10,000 to 20,000 live births. This autosomal recessive disorder is caused by mutations in the phenylalanine hydroxylase gene. Untreated, PKU causes a build up of phenylalanine in the blood and brain resulting in neurologic damage and mental retardation. It is possible for children with PKU to achieve normal intelligence and near normal development if they are diagnosed and the prescribed treatment regimen is followed early and continuously. Previous medical recommendations allowed for discontinuation of the diet after late childhood, however current research suggests there are negative effects of diet discontinuation even in adulthood. The current recommendations in medical community are to continue the treatment for life. Treatment consists of an expensive and unpleasant medical diet, and patient compliance is an ongoing concern. Several studies have explored different psychosocial factors that may have an effect on diet compliance and metabolic control. The purpose of this study was to determine if a relationship existed between two such factors, PKU disease knowledge and health locus of control (HLOC). These two factors have been shown in earlier studies to independently affect metabolic control and medical adherence, but few have examined a possible relationship between the two. Information from the current study may help medical professionals to better understand underlying factors that may influence patient education methods and individual diet compliance. The hypothesis stated that individuals with higher levels of internal HLOC would have higher levels of disease knowledge. Questionnaires were completed by 16 individuals with PKU and 38 parents of individuals with PKU from the National PKUNews listserv and the California Coalition for PKU and Allied Disorders. The questionnaire was designed to measure PKU disease knowledge, Health Locus of Control, and individual health measures including overall health rating and blood phenylalanine level. The current study showed bivariate relationships between internal and chance HLOC, disease knowledge and chance HLOC, and blood phenylalanine levels and disease knowledge. The study also found that age, disease knowledge, and HLOC explain a significant portion of the variance in individual health ratings. Future research should expand on the current study with larger and more diverse samples and explore other independent variables that may account for the remaining variance in overall health ratings. | |
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ÒGENETICS EDUCATION IN ARMENIAN HIGH SCHOOL STUDENTS: A QUANTITATIVE STUDY AIMED AT INCREASING AWARENESS OF GENETIC COUNSELING AND FAMILIAL MEDITERRANEAN FEVER IN THE ARMENIAN COMMUNITYÓ |
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| Familial Mediterranean fever (FMF) is a treatable, autosomal recessive condition that is prevalent in the Armenian population. Armenians are not well represented in the genetic counseling profession possibly due to a lack of awareness of the field. Educating Armenian high school students about FMF and genetic counseling will help raise awareness of FMF and may increase the number of Armenian applicants to genetic counseling programs. This study surveyed Armenian high school students (n = 31) in order to assess their knowledge of genetics, genetic counseling, and FMF. Correlations were found between certain predictor variables and knowledge of genetics, genetic counseling, and FMF. Age, presence of genetic disease in the family, and previous class in genetics correlated with knowledge of genetics. Gender, family history of a genetic condition, and interest in science correlated with knowledge of genetic counseling. Unexpectedly, more than half of the students who were knowledgeable about genetic counseling reported a previous class in genetics. Parental level of education correlated with knowledge of FMF. These findings suggest that students who had a class in genetics and who had a family history of a genetic condition were more likely to know about genetics and genetic counseling. However, only parental educational level correlated with knowledge of FMF and there were only nine students in the sample who had heard of the condition. Considering the population of students attending the high school and prevalence of FMF in Armenians, FMF should be included in the genetics lectures at the school. It is clear that Armenian high school students are learning about genetic counseling in their high school classes, yet there is still an underrepresentation of Armenian genetic counselors. This study has shown that although it is important to educate Armenian students about genetic counseling and FMF, it is just as important to educate teachers, career counselors, and parents about these topics so that they, in turn, can increase awareness and knowledge in their community. | |
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A DESCRIPTIVE STUDY OF INTERNATIONAL GENETIC COUNSELOR TRAINING: PROGRAM STRUCTURE AND STUDENT CHARACTERISTICS
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| There is an increasing international demand for genetic counseling professionals, and as a result new training programs are being developed every year. Today, training programs exist in at least 15 countries around the world. Most studies of genetic counseling education have focused on programs in the U.S. and less is known about the demographics of the greater international genetic counseling community. This study describes the current state of international genetic counseling programs and explores the characteristics of students attending these programs. Program directors completed a survey of their programÕs structure and admissions characteristics. Students participated in a survey assessing their experience and personal characteristics prior to entering their program. Twenty-five programs in 14 countries completed the first survey. Data was also collected from 120 students training in 11 countries. These data show that programs vary in number of yearly applicants and students in attendance, and in the duration of the training curriculum. Student respondents were born in 30 countries on 6 continents, yet they share many characteristics and have similar backgrounds. Most students had prior experience in the biological sciences, research, and healthcare, and more than 75% were motivated to enter the career based on a desire to help others, an interest in genetics, and the desire for intellectual stimulation in their work. Students outside the U.S. were an average of 6 years older and had more advanced study and work experience than students in the U.S. (Lega, et al. 2005). Overall, 90.7% of students were confident in their career choice, although over 50% considered their opportunities for employment to be limited. This study uncovered variations in program structure and in the characteristics of students internationally. Still, the common backgrounds and motivations found among the students in this study, despite their numerous nationalities and countries of training, may reflect an underlying genetic counseling philosophy that attracts certain individuals to the career. | |
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PREDICTING BRCA1 AND BRCA2 MUTATIONS IN WOMEN WITH A PERSONAL HISTORY OF CARCINOMA IN SITU OF THE BREAST
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| BACKGROUND: Although models exist to predict the probability of BRCA mutation for women with invasive breast cancer, appropriate use in women with carcinoma in situ (CIS) of the breast has not been established. We conducted a study to evaluate existing BRCA mutation prediction models in women with CIS. METHODS: Four models were tested in 63 CIS patients seen within the City of Hope Cancer Screening and Prevention Program Network in whom BRCA mutation status was known. Personal medical history, ethnicity, and family history for each subject were obtained and incorporated into the models in three ways: (1) including CIS as invasive cancer at the age of CIS diagnosis; (2) including CIS as invasive with 10 years added to the age at diagnosis; and (3) excluding CIS. Probability estimates were compared using Wilcoxon rank-sum tests and receiver operating characteristics (ROC) analyses. RESULTS: None of the models evaluated performed well in women with CIS, regardless of whether their CIS diagnosis was included or excluded in the probability calculation. The proportion of CIS patients whom we observed to carry a BRCA mutation was similar to that reported with invasive breast cancer, and BRCA carriers with CIS were younger at diagnosis than non-carriers. Furthermore, not all women with positive test results had a significant family history for breast and/or ovarian cancer. CONCLUSIONS: These findings suggest that BRCA testing is appropriate for some women with CIS, and it is necessary to establish a better method of mutational probability prediction for this population. | |
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STIGMA ASSOCIATED WITH CARRIERS OF CYSTIC FIBROSIS: IMPACT OF FAMILIARITY IN A STUDENT POPULATION |
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| Genetic screening is currently available to detect carriers of cystic fibrosis (CF). A possible consequence of population screening for these disorders is the stigmatization of CF carriers by noncarriers and untested individuals. Stigma is the process of identifying and separating individuals with Ònegative traitsÓ, resulting in unfair treatment (Goffman, 1963). To learn about the stigma associated with carriers of CF in the college population, this quantitative study surveyed 264 diverse California State University, Northridge undergraduates. The survey focused on assessing the subjectsÕ prior knowledge of CF, social distance toward carriers, and attitudes attributed to most CF carriers and noncarriers on the Health Orientation Scale (HOS). Social distance and emotions on the HOS were used as measures of stigma. Subjects with family members diagnosed with CF were significantly more likely to associate positive attitudes toward most CF carriers. Also, lower social distance was associated with increased knowledge and personal experiences with CF. Specifically, the subjects who had family members diagnosed with CF, or had friends who were carriers or diagnosed with the disorder, were more open to interactions with CF carriers. Among respondents in this study, knowledge about CF and personal experiences involving the disorder significantly lowered the stigma towards CF carriers. This study suggests that if screening programs for carriers of CF are implemented in colleges, educational programs may help to reduce negative feelings toward carriers. Further studies could improve the generalizability of the results by using a sample from the general population and other colleges. | |
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AMNIOCENTISIS ACCEPTANCE IN THE HISPANIC POPULATION AND THE ROLES OF CONTEXT AND CULTURE
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| TAmniocentesis has become the most routinely offered means of prenatal diagnosis. It is now available to women who are at increased risk of having a child with a birth defect or chromosome abnormality due to either advanced maternal age (AMA), a positive maternal serum screening test, a family history of a genetic condition, or abnormal ultrasound findings. State mandated screening programs, like CaliforniaÕs Expanded AFP maternal serum screening test, have made prenatal screening and diagnosis accessible to all women, including those of ethnic minorities. The aim of this study is to examine the relationship between a patientÕs ethnicity and other personal factors, such as pregnancy history and attitude towards abortion, and her decision to pursue or decline amniocentesis. In addition, the amniocentesis acceptance rates among women referred for AMA versus those referred for a positive maternal serum screen will be analyzed to determine the role that context plays in choosing prenatal diagnosis. It is hypothesized that women who are identified by a routine blood test as being at higher risk to have a child with a birth defect or chromosome abnormality are more likely to choose amniocentesis than women who are identified as being at increased risk based on their age alone. A retrospective chart review was conducted on 155 patients who were referred for either advanced maternal age (³35) or a positive Expanded AFP blood test and an additional 45 patients completed questionnaires. The information collected included age, referral, pregnancy history, ethnicity and amniocentesis decision and the questionnaires were designed to collect more demographic details such as level of education, marital status, religious affiliation and practice habits and to assess attitudes toward abortion and knowledge of prenatal testing options. It was found that reason for referral has a significant impact on amniocentesis uptake with higher amniocentesis acceptance among women referred for a positive screening test compared to women referred for AMA. In addition to context, women who were younger, were more accepting of abortion, had fewer pregnancies and live births, lower religiosity, and a higher level of education were more likely to choose amniocentesis. There were also significant ethnic differences in amniocentesis acceptance, with the Hispanic women in the study population choosing to have amniocentesis less than their non-Hispanic counterparts, independent of the context by which the test was offered. The information presented in this research provides insight as to the concerns and feelings behind womenÕs decisions on prenatal diagnosis and has the potential to affect the way genetic counselors and clinicians provide services to their patients | |