SEARCH · PubMed Health

Results for “genetic test utilization”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources

PubMed2000

Analysis of diversity and genetic relationships between four Chinese indigenous pig breeds and one Australian commercial pig breed.

The genetic diversities and relationships of four Chinese indigenous pig breeds and one Australian commercial pig breed have been evaluated using 27 microsatellites recommended by the International Society of Animal Genetics (ISAG) and the Food and Agriculture Organization (FAO). The allele frequencies, effective numbers of alleles and the polymorphic information content have been calculated. Nei's standard genetic distances have been used to construct a UPGMA dendrogram, which has been evaluated by the Bootstrap test. The utility of microsatellites for evaluating genetic diversity of pigs is discussed.

Alleles↗

PubMed1983

The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity.

One hundred families with insulin-dependent diabetes mellitus (IDDM) were analyzed for linkage with 27 genetic markers, including HLA, properdin factor B (BF), and glyoxalase 1(GLO) on chromosome 6, and Kidd blood group (Jk) on chromosome 2. The linkage analyses were performed under several different genetic models. An approximate correction for two-locus linkage analysis was developed and applied to four markers. Two different heterogeneity tests were implemented and applied to all the markers. One, the Predivided-Sample Test, utilizes various criteria thought to be relevant to genetic heterogeneity in IDDM. The other, the Admixture Test, looks for heterogeneity without specifying a prior how the sample should be divided. Results continued to support linkage of IDDM with three chromosome 6 markers: HLA, BF, and GLO. The total lod score for Kidd blood group, under the recessive model with 20% penetrance, is 1.63--down 1.2 from the 2.83 reported by us earlier. The only other marker whose lod score exceeded 1.0 under any model was pancreatic amylase (AMY2). The two-locus correction, which involved lowering the penetrance values used in the analysis, affected estimates of theta (recombination fraction) but did not markedly change the lod scores themselves. There was little evidence for heterogeneity within any of the lod scores, under either the Predivided-Sample Test or the Admixture Test.

Adult↗

PubMed1999

Preventing morbidity and mortality from sickle cell disease. A public health perspective.

CONTEXT: Sickle cell disease is a group of conditions characterized by production of abnormal hemoglobin, with clinical manifestations that vary by genotype and age. OBJECTIVE: To discuss current public health issues associated with sickle cell disease, and approaches to preventing complications from these conditions in the United States. DESIGN: Literature review. RESULTS: Most clinical interventions for people with sickle cell disease discussed in the medical literature can be classified as tertiary prevention: for example, therapy to ameliorate anemia, reduce the frequency of pain crises, or prevent stroke recurrences. A form of secondary prevention, newborn screening, has emerged as an important public health approach to identifying affected children before they develop complications. Newborn screening is the starting point for simple public health strategies such as parental education, immunization, and penicillin prophylaxis. Identification of affected families by newborn or community screening programs has also been an entry point for genetic counseling, although utilization of prenatal testing has varied by factors such as geographic location. Public health agencies have had significant involvement with funding, policy making, and formulation of laboratory and clinical guidelines for sickle cell disease. Since the introduction of penicillin prophylaxis policies, newborn screening, new immunizations, and comprehensive medical care centers, the survival of young children with sickle cell disease has improved. CONCLUSIONS: Although the efforts of preventive medicine providers in public health programs are not solely responsible for the improved survival of children with sickle cell disease, such programs remain an important component in preventing sickle cell complications.

Anemia, Sickle Cell↗

PubMed1977

Genetic polymorphism and isoenzyme patterns of lactate dehydrogenase in tench (Tinca tinca), crucian carp (Carassius carassius) and carp (Cyprinus carpio).

Isoenzyme patterns and the polymorphism of lactate dehydrogenase (LDH) were investigated in 3 fish species of family Cyprinidae, i.e. tench (Tinca tinca), crucian carp (Carassius carassius) and carp (Cyprinus carpio). The isoenzyme patterns were tissue and species specific. In crucian carp subunits with different electrophoretic mobility are present, which are genetically controlled from the B1, B2, A1, A2 and C loci, while the set of loci in carp is B1, B2, A, C1 and C2 and in tench B, A, C. The locus B of LDH in tench, the locus B2 in crucian carp, and the loci B1, C1 and C2 in carp are polymorphic and have two different alleles in each case. The polymorphism did not affect the total LDH activity in the tissues. All the populations investigated were in Hardy-Weinberg equilibrium. The genetic control of the polymorphism in B1 and C1 loci in carp was proved by test matings. The polymorphism in B loci tested in erythrocytes may be utilized as genetic markers in the fish breeding.

Animals↗

PubMed2006

The AmpliChip CYP450 test: principles, challenges, and future clinical utility in digestive disease.

Understanding genetically encoded inherited differences in drug metabolism and targets (ie, receptors, transporters) offers the promise of minimizing adverse drug reactions and improving therapies. Among the enzymes involved in drug metabolism, the cytochromes P450 (CYP450) hold a central position. In fact, CYP450 are involved in the biotransformation of most drugs used in clinical practice. Recent advances in the development of DNA-based diagnostics, coupled with a better understanding of genetic polymorphisms in influencing pharmacologic responses, have provided the foundation for novel in vitro tests that may predict side effects and/or therapeutic responses. The AmpliChip CYP450 test was developed as a clinical test to evaluate an individual's metabolic capacity for certain drugs by identifying polymorphisms of 2 CYP450 enzymes (ie, CYP2D6 and CYP2D19). Even though the AmpliChip CYP450 has been approved by the US Food and Drug Administration, its practical clinical utility has not yet been determined, and there is a paucity of data related to gastrointestinal and liver diseases. An understanding of the principles and opportunities provided by this new category of diagnostic test is key before planning the necessary studies to evaluate the usefulness of AmpliChip CYP450 in gastroenterologic clinical practice.

Aryl Hydrocarbon Hydroxylases↗

PubMed2007

Ion channels in analgesia research.

The distribution of ion channels in neurons associated with pain pathways is becoming better understood. In particular, we now have insights into the molecular nature of the channels that are activated by tissue-damaging stimuli, as well as the mechanisms by which voltage-gated channels alter the sensitivity of peripheral neurons to change pain thresholds. This chapter details the evidence that individual channels may be associated with particular pain states, and describes genetic approaches to test the possible utility of targeting individual channels to treat pain.

Analgesics↗

PubMed1991

The midline of the Drosophila central nervous system: a model for the genetic analysis of cell fate, cell migration, and growth cone guidance.

A row of mesectodermal cells separates the two lateral neurogenic regions in the Drosophila embryo and generates a discrete set of glia and neurons. Most CNS growth cones initially head straight toward the midline, suggesting that these midline cells play a key role in the formation of the axon commissures. We have used antibodies that stain the first axons, beta-galactosidase enhancer trap lines that selectively stain the different midline cells, and electron microscopic studies to elucidate the cells and interactions that mediate the normal formation of the two major commissures in each segment. This analysis has led to a model that proposes a series of sequential cell interactions controlling the development of the axon commissures. A genetic test of this model has utilized a number of mutations that, by either eliminating or altering the differentiation of various midline cells, perturb the development of the axon commissures in a predictable fashion.

Animals↗

PubMed2005

Contributions of public health to genetics education for health care professionals.

With growing knowledge about the role of genetics in health, genetics education for health care professionals has taken on increasing importance. Many efforts are under way to develop new genetics curricula. Although such efforts are primarily the responsibility of health professional schools and professional societies, the public health system is an important stakeholder, and different sectors of public health have opportunities to enhance educational efforts. These include the development of authoritative information sources about the clinical utility of genetic susceptibility and pharmacogenetic tests, creation of networks that link professionals in underserved regions to educational materials and consultative backup, and sponsorship of forums for multidisciplinary discussion of controversial issues. Public health input can help to ensure an appropriate emphasis on health outcomes as new genomic tests and technologies come into use, thus helping to protect society from the social and medical costs of genetic tests with limited clinical value.

Genetic Predisposition to Disease↗

PubMed2002

Genetic parameters for pork carcass components.

Data from 456 homozygous halothane normal purebred Yorkshire, Duroc, and Other-breed pigs from two national progeny testing and genetic evaluation programs were utilized to estimate genetic parameters for carcass components in pigs. Carcass components were cut and weighed according to Institutional Meat Purchase Specifications. Primal cut weights evaluated included 401 Ham (HAM), 410 Loin (LOIN), 405 Picnic shoulder (PIC), 406 Boston Butt (BB), and 409 Belly (BELLY). Individual muscle weights included the inside (INS), outside (OUT), and knuckle (KNU) muscles of the ham, the longissimus dorsi (LD) and psoas major (TEND) of the loin, and the boneless components of both the Boston Butt (BBUTT) and picnic (BPIC). Muscle weights from each primal were summed to yield a boneless subprimal weight (BHAM, BLOIN, BSHLDR), and all boneless subprimals were summed to yield total primal boneless lean (LEAN). Heritability estimates for HAM, LOIN, and BELLY were 0.57, 0.51, and 0.51, respectively. Heritability estimates for BB and PIC were 0.09 and 0.21, respectively. Heritability estimates for the boneless components of each primal were higher than those for the intact primals. Genetic correlations for HAM, LOIN, and PIC with loin muscle area (LMA) were 0.53, 0.78, and 0.70, respectively, and-0.62, -0.51, and -0.60, respectively, with 10th rib off-midline backfat (BF10). Boneless subprimal components were highly correlated with LEAN. Gilts had heavier weights (P < 0.01) than barrows for all boneless subprimals, individual muscles, LEAN, and for all primal cuts except BELLY. Gilts also had less BF10 and more LMA (P < 0.01) than barrows. Duroc pigs had a heavier (P < 0.01) weight for HAM and PIC when compared to Yorkshires. Yorkshire pigs had more (P < 0.01) LOIN weight than did the Durocs. Results suggest primal, boneless subprimal, and individual muscle weights in pigs should respond favorably to selection.

Adipose Tissue↗

PubMed1989

The Computerized Laboratory Notebook concept for genetic toxicology experimentation and testing.

We describe a microcomputer system utilizing the Computerized Laboratory Notebook (CLN) concept developed in our laboratory for the purpose of automating the Battery of Leukocyte Tests (BLT). The BLT was designed to evaluate blood specimens for toxic, immunotoxic, and genotoxic effects after in vivo exposure to putative mutagens. A system was developed with the advantages of low cost, limited spatial requirements, ease of use for personnel inexperienced with computers, and applicability to specific testing yet flexibility for experimentation. This system eliminates cumbersome record keeping and repetitive analysis inherent in genetic toxicology bioassays. Statistical analysis of the vast quantity of data produced by the BLT would not be feasible without a central database. Our central database is maintained by an integrated package which we have adapted to develop the CLN. The clonal assay of lymphocyte mutagenesis (CALM) section of the CLN is demonstrated. PC-Slaves expand the microcomputer to multiple workstations so that our computerized notebook can be used next to a hood while other work is done in an office and instrument room simultaneously. Communication with peripheral instruments is an indispensable part of many laboratory operations, and we present a representative program, written to acquire and analyze CALM data, for communicating with both a liquid scintillation counter and an ELISA plate reader. In conclusion we discuss how our computer system could easily be adapted to the needs of other laboratories.

Cell Line↗

PubMed2003

DNA fingerprinting of human isolates of Salmonella enterica serotype Paratyphi B in Malaysia.

AIMS: DNA fingerprinting of Salmonella enterica serotype Paratyphi B isolated in Malaysia during 1982-83, 1992 and 1996-2002 was carried out by pulsed-field gel electrophoresis (PFGE), antimicrobial susceptibility tests and D-tartrate utilization tests to assess the extent of genetic diversity of these isolates in Malaysia. METHODS AND RESULTS: Eighty-six human isolates and one food isolate of Salm. Paratyphi B were analysed by PFGE, antimicrobial susceptibility tests and D-tartrate utilization tests. Sixty-five strains were D-tartrate-negative (dT-) while 22 strains were D-tartrate-positive (dT+). Thirty-seven per cent of the Salm. Paratyphi B strains were resistant to one or more antimicrobial agents. PFGE analysis clearly distinguished the dT- and dT+ strains into two clusters based on the unweighted pair group average method (UPGMA). Twenty-two XbaI-pulsotypes were observed among the 65 dT- strains while 17 XbaI-pulsotypes were observed among the 22 isolates of Salm. Paratyphi B dT+. CONCLUSIONS: The present study showed that PFGE was very discriminative with 33.7% of the strains yielding distinct fingerprints. Paratyphoid fever in Malaysia is probably caused by one predominant, endemic clone of Salm. Paratyphi B dT- with various subtypes. There was no association between the pulsotypes and the severity of the disease indicating that the severity of the disease is probably multifactorial. SIGNIFICANCE AND IMPACT OF THE STUDY: The findings of the present study verify the usefulness of PFGE in characterizing strains of Salm. Paratyphi B. This is the first report on the application of PFGE on a large collection of Salm. Paratyphi B in Malaysia.

Aged↗

PubMed2005

Use of susceptibility scoring in conjunction with the genotypic transmission disequilibrium test.

We explored the utility of selecting a genetically predisposed subgroup to increase the finding of a genetic signal in the Genetic Analysis Workshop 14 Collaborative Study on the Genetics of Alcoholism dataset. A subgroup of affected probands with low environmental risk exposures was defined using a susceptibility score calculated from an environmental risk model. Thirty-nine probands with highly positive scores were selected, along with their parents, for use in a genotypic transmission disequilibrium test (TDT) test. We compared the results of the genotypic TDT in this subgroup to the TDT results using all probands and their parents. For some markers, the susceptibility scoring approach resulted in smaller p-values, while for other markers, evidence for a genetic signal weakened. Further explorations into genetic and environmental population characteristics that benefit from this approach are warranted.

Genetic Predisposition to Disease↗

PubMed2006

Cardiomyopathy, familial dilated.

Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed). In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20-48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant.

Cardiomyopathy, Dilated↗

PubMed1997

Genetic epidemiology of myotonic dystrophy in Istria, Croatia.

OBJECTIVES: We evaluated epidemiology of myotonic dystrophy in Istria, Croatia including direct mutation analysis as an additional, specific diagnostic criterion. MATERIAL AND METHODS: Patients were ascertained in the period 1980-1994 from multiple sources under established clinical criteria with a special reference to congenital and minimal forms of the disease. Additionally, patients and their relatives were evaluated by direct mutation analysis. The prevalence, corrected for underascertainment, was estimated on July 1, 1989. RESULTS: A total of 33 DM patients from nine families were ascertained. In all families the diagnosis was confirmed by mutation analysis of the DM gene. After correction for underascertainment the prevalence of 18.1/100,000 was calculated. CONCLUSION: One of the highest prevalence estimates of DM in the populations without evidence of founder effect or genetic isolation was found. Our results imply the importance of ascertainment of patients with all forms of DM and utilization of specific diagnostic tests for estimation of genetic epidemiology in DM.

Croatia↗

PubMed2002

Practical application of molecular genetic testing as an aid to the surgical pathologic diagnosis of sarcomas: a prospective study.

The strong correlation of specific reciprocal translocations with individual tumor types and the demonstration that polymerase chain reaction (PCR)-based methods can detect translocations in tissue samples have stimulated interest in the role of molecular genetic testing in diagnostic surgical pathology. To evaluate the clinical utility of PCR-based molecular analysis of soft tissue neoplasms in routine surgical pathology, 131 consecutive soft tissue tumors submitted for molecular genetic testing at a tertiary care teaching hospital were prospectively analyzed over a 36-month period. RT-PCR was used to test tumor RNA for fusion transcripts characteristic of malignant round cell tumors (including Ewing sarcoma/primitive neuroectodermal tumor, desmoplastic small round cell tumor, and alveolar rhabdomyosarcoma), spindle cell tumors (including synovial sarcoma and congenital fibrosarcoma), and fatty tumors (myxoid liposarcoma). DNA sequence analysis was used to confirm the identity of all PCR products, and the PCR results were compared with the histopathologic diagnosis. We found that sufficient RNA for RT-PCR-based testing was recovered from 96% of the 131 cases and the percentage of tumors that tested positive for the associated characteristic fusion transcript was in general agreement with those reported in the literature. DNA sequence analysis of PCR products identified both variant transcripts and spurious PCR products, underscoring the value of product confirmation steps when testing formalin-fixed, paraffin-embedded tissue. Only in rare cases did testing yield a genetic result that was discordant with the histopathologic diagnosis. We conclude that PCR-based testing is a useful adjunct for the diagnosis of malignant small round cell tumors, spindle cell tumors, and other miscellaneous neoplasms in routine surgical pathology practice.

Base Sequence↗

PubMed2002

Mathematical modeling for breast cancer risk assessment. State of the art and role in medicine.

Women at increased risk of breast cancer have important opportunities for early detection and prevention. There are, however, serious drawbacks to the available interventions. The magnitude of breast cancer risk is a crucial factor in the optimization of medical benefit when considering the efficacy of risk-reduction methods, the adverse effects of intervention, and economic and quality-of-life outcomes. Breast cancer risk assessment has become increasingly quantitative and is amenable to computerization. The assembly of risk factor information into practical, quantitative models for clinical and scientific use is relatively advanced for breast cancer, and represents a paradigm for broader risk management in medicine. Using a case-based approach, we will summarize the major breast cancer risk assessment models, compare and contrast their utility, and illustrate the role of genetic testing in risk management. Important considerations relevant to clinical oncology practice include the role of risk assessment in cancer prevention, the logistics of implementing risk assessment, the ramifications of conveying risk information with limited genetic counseling, and the mechanisms for genetics referral. Medical professionals can embrace new preventive medicine techniques more effectively by utilizing quantitative methods to assess their patients' risks.

Breast Neoplasms↗

PubMed1997

Molecular genetic testing for adult-onset disorders: the evolving laboratory, physician, patient interface.

Molecular genetics is providing the power to predict and diagnose a variety of diseases. This is an evolving field, with new information being gained at a very rapid rate. Ultimately the molecular tools should be available to prevent and/or cure a number of diseases with genetic etiology. The molecular genetics laboratory is playing a pivotal role in effecting the utilization of this technology. However, molecular genetic testing is in many ways unlike other clinical laboratory testing. The process of molecular genetic testing and counseling is complex. The laboratory offering molecular genetic testing must be able to assess pedigrees, decide the proper test to perform and provide interpretation of the tests results obtained. Although standards governing the use of high-complexity genetic tests are evolving it is clear that the laboratory offering these tests will have to have on staff personnel trained specifically in molecular genetics. The challenge will be to stay abreast of evolving technology as well as standards and recommendations governing the use of these tests. We will review the process of molecular genetic testing and the issues that must be considered by laboratories who offer these tests.

Accreditation↗

PubMed2025

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review.

PURPOSE: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic health care providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test. METHODS: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process. Five databases (MEDLINE, EMBASE, CINHAL, EBM reviews, and Web of Science Core Collection) and gray literature were searched. We considered literature published in English since 2010. RESULTS: A total of 51 studies were included. The most commonly evaluated outcomes included cancellation rate, economic efficiencies, impact on medical management, diagnostic rate, and time or triage efficiencies. Several studies also described GC impact on nongenetic health care providers. CONCLUSION: Employment of GCs in the laboratory has been implemented widely as a solution to test misordering. These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts on nongenetic health care providers' ordering practices and the patient experience.

Humans↗