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28 result(s) for "Kaye, Celia I."
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Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned
To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic clinics, most often by genetic counselors. Data from 69 endocrinology patients indicated infrequent referrals for genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.
GENETICS EDUCATION FOR PRIMARY CARE PROVIDERS IN COMMUNITY HEALTH SETTINGS
Patients who are in need of genetic services are often inappropriately managed, in part due to inadequate knowledge of genetic issues among primary health care providers. The purpose of this study was to determine the effect of a genetics education program on the knowledge and attitudes of primary care providers in community health settings. A total of one hundred twenty-one primary care providers who work in Texas Public Health Region VIII participated in an educational program designed to provide basic genetics information. A one-group pretest-posttest design was used to assess knowledge and attitudes of subjects, and comparisons were made pre and post intervention. Pretest assessment revealed less than adequate knowledge about basic genetic principles and relatively positive attitudes among the subjects. Following the program, there were statistically significant increases in both knowledge about genetic conditions (P = .001) and attitudes toward provision of genetic services (P = .001). These results indicate that primary health care providers, motivated to learn complex materials and new skills in order to assist their patients, can do so in a relatively short time period.
Integrating Genetic Services into Public Health – Guidance for State and Territorial Programs from the National Newborn Screening and Genetics Resource Center (NNSGRC)
During the past decade, there have been many advances in genetics, most resulting from mapping the human genome through the Human Genome Project and other research initiatives. Research in the next decade will bring an understanding of genetic/biologic risk and protective factors, and a description of the influence of the environment on genetic variation. Tests will continue to be developed to identify both individuals with genetic disorders and asymptomatic individuals with a genetic predisposition to (a) particular disorder(s).
Perceptions of Mexican American Clients Receiving Genetic Services in South Texas
The objectives of this study were to assess the perceptions among medically indigent Mexican American clients in South Texas receiving genetic services, and the effects of these perceptions on the utilization of genetic services. Using a qualitative ethnographic approach, 16 caretakers of children with genetic conditions and 7 prenatal clients were interviewed. Interview data were analyzed using the NUD*IST 4 computer program. Clients reported challenges with understanding and utilizing genetic services due to language and communication barriers, poverty, cultural differences, and system issues. Client perceptions of genetic services were influenced by experiences with other biomedical providers and traditional healers, and by anxieties precipitated by unfamiliar concepts and approaches to medical care. Recommendations are made to improve provision of genetic services.
Folic Acid Awareness and Use Among Women with a History of a Neural Tube Defect Pregnancy — Texas, 2000-2001
The use of folic acid is a critical component in preventing birth defects. Health-care providers should take advantage of all health-care visits to counsel not only women at high risk (i.e., those with a history of having an infant with a neural tube defect [NTD]) but all women regarding the importance of folic acid use. A study conducted in Texas confirmed that white and Hispanic mothers were equally likely to recall receiving postpartum advice to use folic acid; however, Hispanic women were much less likely to use folic acid, compared with white women. This report covers data from May 2000 through November 2001. A study was conducted in Texas to determine whether women at high risk recall and follow recommendations to use folic acid. The study included 195 women at high risk and 223 control mothers who gave birth to infants without birth defects. These women participated in a telephone interview for a population-based case-control study of NTDs. Approximately 56.4% (110 of 195) of mothers who had infants affected by an NTD recalled receiving postpartum advice to use folic acid, compared with 25.6% (57 of 223) of control mothers (p < 0.01). Among nonpregnant case mothers, 54 (32.7%) of 165 reported regular use of supplements containing folic acid, and 53 (25.2%) of 210 nonpregnant control mothers reported this behavior (p = 0.11). Among case mothers, use of folic acid was significantly higher for whites (64.7%) versus Hispanics (16.5%) (p < 0.001); for women with some college education (57.1%) versus no college education (20.2%; p = 0.001); for women who were trying to get pregnant (66.7%) versus those using birth control (38.3%) or reporting using no contraceptive method (18.8%) (p = 0.001); and for women who reported receiving advice to use folic acid (40.9%) versus those who did not (22.2%; p = 0.01). Findings from this study support the need to implement NTD recurrence prevention activities in Texas. Data also identify a need for educational strategies in Texas that target Hispanic women at high risk, especially those who primarily speak Spanish. Further efforts should be made to determine why Hispanic women have low rates of folic acid use (e.g., the cost of vitamins and language and cultural barriers). On the basis of a review of research and current practice, recommendations developed by the Public Health Service include 1) women at risk for a recurrent NTD-affected pregnancy should take 0.4 mg of folic acid per day; and 2) if a woman at high risk is planning a pregnancy, she should consult her physician regarding taking the higher dose of 4.0 mg per day.
Human Colonic Adenocarcinoma Cells. I. Establishment and Description of a New Line
A series of human colonic epithelial cell lines have been cultured from a single patient: LS-180 the original adenocarcinoma, LS-174T a trypsinized variant, and normal colonic tissue. The malignant cells, 20 to 40 μm in diameter and oval to polygonal, exhibited characteristics of normal colonic mucosal cells, namely, abundant microvilli prominent in secretory cells, and the presence of intracytoplasmic mucin vacuoles. The cultured adenocarcinoma cells, but not normal, demonstrated neoplastic properties by producing high levels of carcinoembryonic antigen (CEA) and by the ability to be propagated in hamster cheek pouches and in immunodeprived mice. The CEA production by the newly established line LS-180 released 900 times more CEA per cell into the culture medium and bore 30 times more cell-associated material than the established line, HT-29. These cell lines may permit detection of distinctive chemical, physiological, pharmacologic, and immunologic characteristics of neoplastic colonic cells.
Characterization of a Human Colonic Adenocarcinoma Cell Line, LS123
An epithelial cell line, LSI23, was established in 1974 from the second in a series of three primary colonic tumors resected from a Caucasian female. The cell line is aneuploid, releases low concentrations of carcinoembryonic antigen (CEA), fails to grow progressively in nude mice, and forms colonies only in enriched semisolid medium developed for tumor stem cells. LS123 cells grow on confluent cell monolayers and in either low serum or serumfree medium. In the chick embryonic skin assay, LS123 cells grew as a well-differentiated abnormal colonic epithelium with little mitotic activity but with some indication of invasion. On floating collagen gels LS123 cells formed a one to three-cell-layer-thick undifferentiated epithelial sheet. The apparent low invasiveness of the cells of this line is supported by the patient's history of three primary colon tumors without systemic metastases during the past 30 yr. Therefore, although LS123 cells possess several properties associated with neoplasia, they have little invasive potential. Thus, LS123 cells may represent an important model for the study of human colon cancer.