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PubMed2006

Racial differences in beliefs about genetic screening among patients at inner-city neighborhood health centers.

BACKGROUND: Genetic testing has the potential to identify persons at high risk for disease. Given the history of racial disparities in screening, early detection and accessing treatment, understanding racial differences in beliefs about genetics is essential to preventing disparities in some conditions. METHODS: In 2004, a sample of older adult patients from four inner-city health centers was surveyed to assess beliefs about genetic determinants of disease, genetic testing and religion. Logistic regression determined which beliefs were associated with race. RESULTS: Of the 314 respondents, 50% were African Americans. Most respondents thought that sickle cell disease, cystic fibrosis and diabetes are primarily genetic. African Americans were more likely than Caucasians to believe that genetic testing will lead to racial discrimination (Odds ratio (OR): 3.02, 95% confidence interval (CI): 1.5-6.0) and to think that all pregnant women should have genetic tests (OR=3.8, 95% CI: 1.7-8.6). African Americans were more likely to believe that God's Word is the most important source for moral decisions (OR: 3.6, 95% CI :1.5-8.7). CONCLUSION: African Americans and Caucasians differ in beliefs about genetic testing and the basis for moral decision-making. Acknowledging and understanding these differences may lead to better medical care.

Black or African American↗
PubMedDate not supplied

Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence.

BACKGROUND: To develop screening strategies for identification of individuals at increased genetic risk for type 1 diabetes in three populations with variable disease incidence rates and distinct ethnic origin. METHODS: A stepwise HLA DQB1-DQA1-DRB1-based screening approach was evaluated. Patients with childhood-onset type 1 diabetes were recruited from Finland (n = 1739), Hungary (n = 149), and Greece (n = 119). Consecutive newborns (2568 from Finland and 1047 from Greece) or healthy schoolchildren (n = 177 from Hungary) served as controls. RESULTS: The DQB1*02/0302 genotype conferred the highest disease risk in all populations. The DQB1*02/y (y not equal DQB1*0301,*0302,*0602,*0603, *0604) genotypes were more common and conferred a higher disease risk in the Greek population (OR 4.9) compared to the Finns (OR 1.2). DQB1*0302/x (x not equal DQB1*02, *0301, *0602, *0603, *0604) genotypes were, in contrast, more prevalent among Finnish cases (32.7%) as compared to Hungarians (18.1%) or Greeks (13.5%). The protective DQB1*0602 or *0603 positive genotypes were most common in the Finns, while DQB1*0301 was more common in Hungarians and Greeks. In all groups, DQA1 and DRB1*04 typing considerably increased the sensitivity of the DQB1-based screening. The different high-risk genotype combinations present in about 10% of the background population had a diagnostic sensitivity of 60% in Finland and 80% in Hungary and Greece. CONCLUSIONS: HLA DR-DQ-based screening is a feasible tool for the identification of individuals at increased genetic risk for type 1 diabetes in populations with diverse genetic background. The risk markers should, however, be individually selected for the target population since the screening efficiency of various markers is highly dependent on the ethnic group studied.

Biomarkers↗
PubMed2002

[Genetic screening in children].

Before giving a prescription on a genetic test, it is necessary to estimate if a real direct benefit exists for the children. This is right if the disease occurs during childhood and teenage and when the genetic status identified early may improve care, prevention and people accompaniment or if, on the contrary, knowing that the children has no risk to develop a disease will save him from a particularly restricted medical observation. At the opposite, letting him know his future may, for sure, cause him some trouble (disruption). The parents' distress and their hope for getting a negative test result should not be more important than the child's interest which has to prevail over his parents'. If the child has no risk to develop a genetic disease himself and if the risk concerns only his descendants, there is no reason for knowing his genetic status before he makes plans himself for his procreation.

Adolescent↗
PubMed2003

Genetic screening for hereditary diffuse gastric cancer.

Knowledge regarding the genetic basis of hereditary diffuse gastric cancer has greatly increased in the past 4 years, namely due to the discovery of segregating germline mutations in the gene coding for E-cadherin, within families with this cancer predisposing syndrome. Members of hereditary diffuse gastric cancer families have predominantly high predisposition to develop diffuse carcinomas of the stomach but can also be associated with an elevate risk for other types of cancer, namely lobular breast carcinoma. In this review, we focus on the epidemiology, pathology and genetics of gastric cancer, describe families, E-cadherin mutations, and suggest alternative candidate genes underlying the hereditary diffuse gastric cancer syndrome. This knowledge is a fundamental step towards accurate genetic counselling, in which a highly specialized presymptomatic therapeutic intervention should be offered.

Gastrectomy↗
PubMed1998

Equivocal notions of accuracy and genetic screening of the general population.

The explosive growth in genetic technology quickly will make possible an unprecedented number of tests for genetically based conditions. A necessary condition for the use of such tests without risk of harm to the patient is their accuracy. However, most discussions of test accuracy in the literature have equivocated between two importantly different meanings of the word. In particular, it must be remembered that a high analytic accuracy does not imply a high diagnostic accuracy. Questions about the diagnostic accuracy of genetic tests presently loom large because of our limited knowledge of the complex etiology of disease and the distribution within the general population of the causal factors involved. Our current inability to supply patients with accurate diagnosis based on genetic information, however, is less problematic when examined in the context of new reproductive technologies such as in vitro fertilization and intraplasmic sperm injection.

Attitude to Health↗
PubMed2004

An F1 genetic screen for maternal-effect mutations affecting embryonic pattern formation in Drosophila melanogaster.

Large-scale screens for female-sterile mutations have revealed genes required maternally for establishment of the body axes in the Drosophila embryo. Although it is likely that the majority of components involved in axis formation have been identified by this approach, certain genes have escaped detection. This may be due to (1) incomplete saturation of the screens for female-sterile mutations and (2) genes with essential functions in zygotic development that mutate to lethality, precluding their identification as female-sterile mutations. To overcome these limitations, we performed a genetic mosaic screen aimed at identifying new maternal genes required for early embryonic patterning, including zygotically required ones. Using the Flp-FRT technique and a visible germline clone marker, we developed a system that allows efficient screening for maternal-effect phenotypes after only one generation of breeding, rather than after the three generations required for classic female-sterile screens. We identified 232 mutants showing various defects in embryonic pattern or morphogenesis. The mutants were ordered into 10 different phenotypic classes. A total of 174 mutants were assigned to 86 complementation groups with two alleles on average. Mutations in 45 complementation groups represent most previously known maternal genes, while 41 complementation groups represent new loci, including several involved in dorsoventral, anterior-posterior, and terminal patterning.

Animals↗
PubMed2000

Sensitive genetic screen for protease activity based on a cyclic AMP signaling cascade in Escherichia coli.

We describe a genetic system that allows in vivo screening or selection of site-specific proteases and of their cognate-specific inhibitors in Escherichia coli. This genetic test is based on the specific proteolysis of a signaling enzyme, the adenylate cyclase (AC) of Bordetella pertussis. As a model system we used the human immunodeficiency virus (HIV) protease. When an HIV protease processing site, p5, was inserted in frame into the AC polypeptide, the resulting ACp5 protein retained enzymatic activity and, when expressed in an E. coli cya strain, restored the Cya(+) phenotype. The HIV protease coexpressed in the same cells resulted in cleavage and inactivation of ACp5; the cells became Cya(-). When the entire HIV protease, including its adjacent processing sites, was inserted into the AC polypeptide, the resulting AC-HIV-Pr fusion protein, expressed in E. coli cya, was autoproteolysed and inactivated: the cells displayed Cya(-) phenotype. In the presence of the protease inhibitor indinavir or saquinavir, AC-HIV-Pr autoproteolysis was inhibited and the AC activity of the fusion protein was preserved; the cells were Cya(+). Protease variants resistant to particular inhibitors could be easily distinguished from the wild type, as the cells displayed a Cya(-) phenotype in the presence of these inhibitors. This genetic test could represent a powerful approach to screen for new proteolytic activities and for novel protease inhibitors. It could also be used to detect in patients undergoing highly active antiretroviral therapy the emergence of HIV variants harboring antiprotease-resistant proteases.

Adenylyl Cyclases↗
PubMed2000

The genetics, screening, and treatment of epithelial ovarian cancer: an update.

Recent genetic findings are shedding light on who is at risk for epithelial ovarian cancer, by far the most common of ovarian malignancies. Current screening tests are inadequate, but a serum test of lysophosphatidic acid shows promise. Clinical trials show that cisplatin or carboplatin plus paclitaxel increases progression-free and overall survival times vs regimens that do not contain paclitaxel, and that a carboplatin-paclitaxel regimen is less toxic than cisplatin-paclitaxel and can be given on an outpatient basis. The development of newer cytotoxic drugs and alternative routes of administering chemotherapy offers hope of improved survival for women with advanced ovarian cancer.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1993

The role of genetic screening in the management of hereditary malignancy.

The identification of closely linked markers for several genetic syndromes has resulted in the routine identification of gene carriers for these disorders before the development of disease manifestations. The experiences with the multiple endocrine neoplasia syndromes, multiple endocrine neoplasia type 2 in particular, provide one example of how genetic testing can be combined with ongoing screening, treatment and support mechanisms to help families cope with the treatment realities and the psychosocial aspects of genetic disease.

Genetic Testing↗