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At least 829 records · Page 46Linked to original sources
PubMed2004

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.

Primary open angle glaucoma (POAG) affects 1% of people over age 40. Early detection and treatment can prevent blindness, but the disease is often asymptomatic until a late stage. Positive family history is an important risk factor and previous studies indicate that approximately 5% of POAG results from mutations in the myocilin ( MYOC) gene, raising the possibility of identifying individuals genetically predisposed to glaucoma. We collected DNA samples from 426 unselected UK POAG patients and analyzed them for MYOC mutations. The Q368X mutation was found in six patients (1.4%). No other mutations were identified, suggesting that amongst patients unselected for family history, the prevalence of MYOC mutations in the UK is lower than in other populations. Genetic and glaucoma screening was offered to first-degree relatives of these six probands (group 1) and of age/sex-matched mutation-negative controls (group 2). Of 11 group-1 relatives, three carried Q368X, one of whom already had glaucoma. Notably, of the 13 relatives in both groups who were mutation negative, one was already being treated for ocular hypertension. We therefore caution against changing glaucoma surveillance regimens in such individuals and suggest that routine untargeted genetic testing for MYOC mutations in patients with POAG would be of limited value until additional significant genetic risk factors are identified.

Adult↗
PubMed2003

Genetic testing in inherited ataxias.

Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible for some conditions, but the use of gene tests in these clinical situations requires detailed genetic counseling that may be best left to genetics specialists.

Age of Onset↗
PubMed2003

Attitudes and knowledge about presymptomatic genetic testing among individuals at high risk for familial, early-onset Alzheimer's disease.

The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD. All 56 family members would use presymptomatic testing to know their own risk of AD. Confronted with a hypothetical reproductive choice, 50% would choose not to have children if they themselves had the mutation. A positive prenatal test would lead 48.2% of the participants to have an abortion, and 19.7% would continue the pregnancy regardless of the positive test result.

Adult↗
PubMed2000

Genetic testing.

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Confidentiality↗
PubMedDate not supplied

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. The BOR gene, EYA1, on chromosome 8q13 has recently been cloned and mutations have been identified. In this study, we have analyzed the sites of mutations in the EYA1 gene in BOR patients to determine the spectrum of mutations. We have identified two missense mutations and have compared all the mutations reported to date in the EYA1 gene. In total, 20 mutations have been described, the majority of which are clustered in the carboxy-terminal region of the gene. The clinical features of the BOR individuals have also been compared to determine if the nature of the mutation correlates with the type and severity of the clinical symptoms. Most of the mutations arose de novo and, other than the clustering in carboxy-terminal exons 9-16, no mutation hot spots have been identified. These results provide the basis for molecular genetic testing that will help in the clinical evaluation and genetic counseling of members of BOR families.

Base Sequence↗
PubMed2004

Predictors of cognitive appraisals following genetic testing for BRCA1 and BRCA2 mutations.

The objectives of this study were (1) to describe perceptions of stress and confidence following genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and (2) to identify predictors of these processes. Participants were 130 high-risk women affected with cancer who received BRCA1/2 test results. Individual difference characteristics and interpersonal factors were measured by self-report before genetic counseling and perceptions of stress and confidence were evaluated by self-report 1 month following disclosure of test results. BRCA1/2 test results had a significant effect only on perceptions of stress (beta = 0.38, p = 0.0001), while trait anxiety had a significant effect on both perceptions of stress (beta = 0.44, p = 0.0001) and confidence (beta = -0.41, p = 0.001). These results suggest that interventions designed to address perceptions of stress related to medical decision-making and familial concerns may need to be targeted to BRCA1/2 mutation carriers and individuals who are highly anxious.

Adaptation, Psychological↗
PubMed2006

The role of genetic testing in soft tissue sarcoma.

Soft tissue tumours represent a heterogeneous group of mesenchymal lesions and their classification continues to evolve as a result of incorporating advances in cytogenetic and molecular techniques. In the last decade traditional diagnostic approaches were supplemented with a significant number of reliable molecular diagnostic tools, detecting tumour type-specific genetic alterations. In addition, the successful application of some of these techniques to formalin-fixed paraffin-embedded tissue made it possible to subject a broader range of clinical material to molecular analysis. Thus, molecular genetics has already become an integral part of the work-up in some tumours, such as paediatric small blue round cell tumours, which demonstrate characteristic translocations. Several lines of evidence suggest that sarcomas can be divided into two major genetic groups: (i) sarcomas with specific genetic alterations and usually simple karyotypes, such as reciprocal chromosomal translocations (e.g. FUS-DDIT3 in myxoid liposarcoma) and specific oncogenic mutations (e.g. KIT mutation in gastrointestinal stromal tumours); and (i) sarcomas with non-specific genetic alterations and complex unbalanced karyotypes. Some of these genetic abnormalities, including chromosomal numerical changes, translocations, gene amplifications or large deletions can be apparent at the cytogenetic level (karyotyping, fluorescence in situ hybridization), while others, such as small deletions, insertions or point mutations, require molecular genetic techniques (polymerase chain reaction and sequence analysis). This review focuses on the applicability of genetic testing in the diagnosis and prognosis of soft tissue sarcomas, and gives a realistic appraisal of the ancillary role of molecular techniques, including its advantages and limitations.

Base Sequence↗
PubMedDate not supplied

The pros and cons of genetic testing for breast and ovarian cancer risk.

Nearly 10% of breast and ovarian cancers develop as a direct consequence of an inherited flaw in the genes BRCA1 and BRCA2. The protein products of these genes suppress the development of cancer, in part by repairing damage in other genes. Women who inherit a nonfunctioning copy of either BRCA1 or BRCA2 therefore have a significantly elevated lifetime risk of breast cancer, especially at an early age. Identification of hereditary breast and ovarian cancer susceptibility allows optimized medical management of an individual's increased risk of breast and ovarian cancer. Significantly, testing may also identify women in "high-risk" families who did not themselves inherit cancer susceptibility, allowing them to avoid unnecessary medical intervention. Choosing to be tested for breast and ovarian cancer risk is a complicated task, however. It takes into account concerns about insurance liability, family dynamics, and an individual's psychological needs. From the limited research, evidence suggests that for individuals in high-risk families it is more beneficial to know than not to know one's genetic status. Education and counseling may improve public perception about genetic testing for breast cancer.

Breast Neoplasms↗
PubMed2002

Implementation of a classification hierarchy for the GeneTests/GeneClinics genetic testing databases.

The combination of a) our changing understanding of genotypic and phenotypic classification of diseases and b) the rapid growth and expansion of the number of entries in two databases targeted toward clinicians resulted in the need to develop a flexible dynamic hierarchical classification system for genetic disorders. The two databases making use of this classification schemas are the GeneClinics (GC) database - www.geneclinics.org and the GeneTests (GT) database - www.genetests.org The GC and GT databases serve respsectively as the users manual and yellow pages of genetic testing. The GeneTests/GeneClinics (GT/GC) classification hierarchy is maintained as a simple set of parent/child relationships in a relational database. The hierarchy is generated in real time in response to a user request. It is not maintained as a set of members with relationships defined by characters that are parsed to determine the structure of the tree. The GT/GC classification hierarchy entries are handled as objects by the data maintenance and search tools and may have a number of attributes and associations that create a rich tool for defining and examining genetic disorders

Databases, Genetic↗
PubMedDate not supplied

Genetic testing for breast cancer: where are health care providers in the decision process?

PURPOSE: To identify BRCA1/2 knowledge, genetic testing intentions, and communication patterns in breast cancer survivors (survivors). METHODS: A population-based survey was conducted of 276 female survivors diagnosed between the ages of 40 and 49 and living 5 to 10 years postdiagnosis. RESULTS: Of the 79% who responded, 8% spoke with health care providers and 53% spoke with relatives about testing. Few (26%) correctly answered over half the BRCA knowledge questions. Intention to obtain testing varied (26-67%), depending on insurance coverage. CONCLUSION: Health care providers and survivors seldom discuss BRCA testing. Providing information to survivors would increase their ability to make informed testing decisions.

Adult↗
PubMedDate not supplied

Implications of genetic testing for sudden cardiac death syndrome.

The completion of the Human Genome Project in 2003 is shifting the focus of modern health care from disease management based on clinical signs to genomic-based treatment and prevention. Nurses at all levels of practice are going to increasingly come under pressure to deliver evidence-based, competent care to families undergoing genetic testing for hereditary conditions (Skirton and Barnes, 2005). A new chapter added to the National Service Framework for Coronary Heart Disease in 2005 raised awareness of the genetic basis of up to 400 sudden cardiac deaths that occur every year in the UK (Department of Health, 2005). This article addresses some of the clinical and ethical implications for nurses caring for families who may be at risk of an inherited sudden cardiac death syndrome. Nursing practice implications are discussed, concluding that more research is needed to explore how family members cope with genetic information which will shape the provision of future genetic healthcare.

Adaptation, Psychological↗
PubMed1999

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

Early-onset, generalized primary torsion dystonia (PTD) is an autosomal dominantly inherited disorder, characterized by involuntary movements and abnormal postures. The majority of cases are caused by a 3-bp deletion in the DYT1 gene on chromosome 9q34 that allows for specific genetic testing. We developed a simple, reliable, and cost-effective, PCR-based screening method for this mutation. Testing results from a cohort of 550 cases, including patients with different forms of dystonia and unclassified movement disorders, revealed that 72.2% of the patients with typical early-onset generalized PTD carried the GAG deletion in the DYT1 gene. Among 300 cases with late-onset focal/segmental dystonia, only 3 patients tested positive for the GAG deletion whereas 12.8% of the patients with an unclassified movement disorder were GAG positive. Our results confirm a genotype/phenotype correlation in early-onset PTD and show that application of strict clinical criteria leads to accurate prediction of carrier status in more than two-thirds of patients with this type of dystonia. Currently, we suggest that testing be recommended in individuals with age of onset of dystonia below 30 years and/or a positive family history of early-onset PTD. Testing is not recommended in patients with onset of symptoms after 30 years or in asymptomatic individuals under the age of 18.

Adult↗
PubMed2004

Genetic testing for enzymes of drug metabolism: does it have clinical utility for pain medicine at the present time? A structured review.

STUDY DESIGN: This is a structured review of genomic (genetic) testing for enzymes of drug metabolism. OBJECTIVES: Recently, industry began offering genomic testing for enzymes of drug metabolism. As such, the objective of this review was to determine if genomic testing for enzymes of drug metabolism has any imminent clinical relevance for the practice of pain medicine. METHODS: Relevant references relating to pharmacogenetics, pharmacogenomics, and the metabolizing of drugs used in pain medicine by cytochrome P-450 enzymes were located and reviewed in detail. The P-450 enzymes that metabolize each drug and whether that drug had been identified as being subject to a clinical consequence of a genetic polymorphism of the P-450 enzyme involved in its metabolism were placed into tabular form. RESULTS OF DATA SYNTHESIS: 1) For a large number of drugs, we do not yet know which cytochrome P-450 enzymes are involved in their metabolism; 2) For a large number of drugs, the consequences of a P-450 genetic polymorphism have yet to be determined; 3) Genetic polymorphism can lead to important potential clinical consequences for some opioids, anticonvulsants (phenytoin), benzodiazepines (diazepam), muscle relaxants (succinylcholine), antidepressants (imipramine, nortriptyline, venlafaxine), typical neuroleptics, alcohol, antihypertensives (propranolol, timolol), local anesthetics (procainamide), L-dopa, nicotine, and warfarin. Based on these results, factors for and against using genomic testing were reviewed. CONCLUSIONS/RECOMMENDATIONS: It was concluded that genomic testing for enzymes of drug metabolism has significant potential for improving the efficacy of drug treatment and reducing adverse drug reactions. Recommendations for when such testing would be useful are outlined.

Analgesics↗