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PubMed2002

[Genetic tests for leukemia].

The diagnosis of leukemia is mainly based on chromosome analysis and genetic testing. The analysis of molecular genetics associated with chromosome abnormalities has contributed to new classifications of leukemia. The minimal residual disease(MRD) in its currently accepted application refers to low-level disease detected by quantitative PCR techniques in clinical situations. It is anticipated that efforts in characterization of molecular genetics in leukemia will ultimately translate into better clinical outcomes for patients.

Chromosome Aberrations↗
PubMed2002

Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology.

OBJECTIVES: Adult gastroenterologists practicing in New York State were surveyed to determine their practice with regard to identifying family histories consistent with inherited forms of colorectal cancer, and to assess their awareness of cancer genetic counseling and molecular genetic testing for familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). METHODS: A closed-ended questionnaire was mailed to 815 gastroenterologists identified through the membership Directory of the American Gastroenterological Association (1998). Two mailings resulted in a response rate of 35%. RESULTS: In all, 99% of the gastroenterologists obtained a family history from their patients, and 95% were aware of cancer genetic counseling. However, only 51% would routinely refer patients for genetic counseling before providing cancer predisposition testing. In addition, only 52% were aware of the availability of genetic tests for FAP and 34% for HNPCC. Presented with a family history consistent with HNPCC, 79% could identify the syndrome, 26% recommended genetic counseling for the consultand, and 16% advised appropriate screening, according to current recommendations. CONCLUSIONS: The majority of gastroenterologists do obtain a family history on their patients. However, there is a need for physician education regarding the recognition of pedigrees consistent with inherited colorectal cancer, the genetic counseling process, and the availability of mutation testing for FAP and HNPCC.

Adenomatous Polyposis Coli↗
PubMed1997

[Genetic testing of BRCA1 for familial ovarian cancers].

Ovarian cancer is the most lethal kind of gynecological malignancy. Though combination therapy has improved, the prognosis is still poor. It is a risk factor to have a member affected with breast or ovarian cancer in one's family or to have been affected with these diseases. Genetic testing will more effectively enable earlier diagnosis and cure of such diseases. Including the selected results of familial ovarian cancers, we discuss the effectiveness and difficulty of genetic testing of BRCA1 in Japan.

BRCA1 Protein↗
PubMed2006

Using the impact of event scale to evaluate distress in the context of genetic testing for breast cancer susceptibility.

The data obtained with two forms of the Impact of Event Scale were compared, one referring to a BRCA1/2 test result (IES-T) and another to cancer (IES-C). The sample consisted of 272 women with a family history suggestive of a BRCA1/2 mutation who underwent genetic testing and received results: noncarrier, carrier, or inconclusive. Globally, mean scores on the IES-C form were higher than those obtained on the IES-T form. Among carriers of a BRCA1/2 mutation, mean scores on the two forms were similar and agreement was good, as measured by the intraclass correlation coefficient (.83; 95% 95% CI=.72, .91). Agreement between the forms was poor to fair among noncarriers (ICC= .38; CI= .15, .57) and women with an inconclusive result (ICC= .40; 95% CI= .26, .52). Having had cancer increased total scores but had little influence on agreement between scores on forms. These findings highlight the importance of carefully selecting the form of the Impact of Event Scale in the context of genetic testing for breast cancer susceptibility.

Adult↗
PubMed1994

Ethical issues related to prenatal genetic testing. The Council on Ethical and Judicial Affairs, American Medical Association.

This report examines ethical issues related to prenatal genetic testing, including the physician's role in promoting informed reproductive decisions and physician involvement in genetic selection and manipulation. In general, it would be ethically permissible to participate in genetic selection (abortion or embryo discard) or genetic manipulation to prevent, cure, or treat genetic disease. It would not be ethical to engage in selection on the basis of benign characteristics. Genetic manipulation of benign traits, though generally unacceptable, may be permissible under exceptional circumstances. At a minimum, three criteria would have to be satisfied: there would have to be a clear and meaningful benefit to the child, there could be no trade-off with other characteristics or traits, and all citizens would have to have equal access to the genetic technology, irrespective of income or other socioeconomic characteristics.

Abortion, Therapeutic↗
PubMed1999

Negative genetic test result in familial adenomatous polyposis: clinical screening implications.

PURPOSE: The goal of genetic testing is to define individual risk, which in turn may guide clinical management. METHODS: Thirty-two international familial adenomatous polyposis registries were surveyed regarding their approach to a specific clinical management question. There were 30 respondents. Respondents declared their clinical policy for an at-risk, first-degree relative who undergoes direct mutation analysis and does not have an APC gene mutation known to be present in his or her family. RESULTS: Nineteen of 30 (63.3 percent) registries would discharge this negative APC mutation case from clinical screening. Eleven of 30 (37 percent) registries would maintain clinical screening. Reasons offered for maintaining surveillance included the need for additional confirmation of the APC mutation in two affected relatives, the possibility of sampling error or two different mutations in an affected family, limited prospective data, and patient anxiety. CONCLUSIONS: The discrepancy in response to the survey suggests that some clinicians are as yet reluctant to accept fully that predictive genetic analysis is a definitive guide to clinical management in familial adenomatous polyposis. Nevertheless, we believe that use of a predictive gene test for familial adenomatous polyposis should alter management, decrease cost, and reduce psychological trauma for the tested individual. Although the benefit of APC analysis is accepted for the positive gene carrier, the challenge remains to reclassify the negative gene carriers who are no longer at risk for familial adenomatous polyposis.

Adenomatous Polyposis Coli↗
PubMed2006

Genetic Testing for Huntington's Disease: How Is the Decision Taken?

Research on genetic decision-making normally constructs the decision as an opportunity for choice. However, minimal research investigates how these decisions are taken and whether those who live with genetic risk perceive the test as an opportunity for choice. Employing semistructured interviews with at-risk persons, this study explored decisions about genetic testing for Huntington's disease (HD)--a fatal genetic disorder. A primary aim was to understand how test decisions were perceived. Qualitative data analysis revealed four decision pathways: (1) no decision to be made, (2) constrained decisions, (3) reevaluating the decision, and (4) indicators of HD. Contrary to the rational, "information-processor" approach to decision making, some test decisions were immediate and automatic. These stories challenged the conventional construction of a genetic-test decision as an opportunity for choice. Participant narratives suggested that this construction may be inadequate, at least for some people who live with genetic risk. Test decisions were sometimes constrained by perceived responsibility to other family members, notably offspring. For others at risk, the test decision was a dynamic process of critical thought and evaluation. Finally, behaviors that could be symptoms of HD were the catalyst for testing.

Adult↗
PubMed1998

Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics.

OBJECTIVE: Identification of clinical and molecular characteristics associated with constitutional MLH1 and MSH2 mutations and definition of a stepwise strategy for the selection of colorectal cancer (CRC) patients amenable to MLH1 and MSH2 genetic testing. METHODS: 90 unrelated CRC patients were initially selected on the basis of either familial or early onset occurrence of CRC. They were screened for the presence of constitutional MLH1 and MSH2 mutations and for microsatellite instability (MSI). RESULTS: 16 pathogenetic mutations (9 MLH1 and 7 MSH2) were identified in 41% of Amsterdam hereditary nonpolyposis colorectal cancer (HNPCC) families, 5% of suspected HNPCC families, and 14% of sporadic early-onset CRC patients. The presence of the mutations correlated with MSI, with early age of onset and proximal location of the tumor, and with the presence of some extracolonic tumors of the HNPCC spectrum and/or multiple tumors in the family. CONCLUSIONS: Evaluation of clinical and molecular characteristics is useful for the identification of candidates to MLH1 and MSH2 mutational analysis and allows the application of a rational approach to genetic testing.

Journal Article↗
PubMed2006

Genetic testing for von Willebrand disease: the Canadian experience.

Von Willebrand disease (vWD) is the most common inherited bleeding disorder in humans, but its diagnosis, using clinical criteria and phenotypic hemostasis test results, can be problematic. Since the cloning of the von Willebrand factor ( VWF) gene in the mid-1980s, a significant amount of information has been gathered with respect to the molecular pathology responsible for this trait. The extent of this information, along with major advances in genetic technology, has now made the integration of genetic testing for vWD a feasible option in some instances. This review summarizes the current state of knowledge regarding the genetic causation of the various forms of vWD. We also describe how the genetic analysis of vWD has been initiated within the context of a national network of inherited bleeding disorder clinics. In summary, the aim of this review is to prompt a careful consideration of how genetic testing can find an appropriate role as a complementary diagnostic modality for vWD.

Canada↗
PubMed1996

AANA Journal course: update for nurse anesthetists--genetic testing for malignant hyperthermia.

The "gold standard" for the determination of susceptibility to malignant hyperthermia has long been the caffeine-halothane-contracture test, which is costly and invasive. As the workings of molecular genetics are better understood, research is being applied to finding the causative gene for malignant hyperthermia. Once this gene is identified, genetic testing will involve a much simpler, less invasive test that uses blood samples to detect susceptibility. To reach this goal, researchers have been attempting to identify the deoxyribonucleic acid (DNA) mutations responsible for malignant hyperthermia by using techniques such as linkage analysis. Review of the literature reveals that malignant hyperthermia has been linked to the ryanodine receptor in swine and in some humans. It has also been linked to chromosome 19q12-13.1, which is where the gene encoding the ryanodine receptor lies. The literature further reveals that malignant hyperthermia may be a heterogeneous disorder, which means that more than one gene is responsible for its expression.

Chromosome Mapping↗