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PubMed1996

Prognostic implications of HLA genotyping in the early assessment of patients with rheumatoid arthritis.

Current methods and approaches for the use of HLA markers in the assessment of rheumatoid arthritis (RA) are not optimal. Improved strategies for application of HLA susceptibility genetic typing in patients were evaluated and a new system for rapid determination of these RA susceptibility alleles was developed. Retrospective data summarizing the prevalence of HLA susceptibility alleles in patients with distinct clinical outcomes was analyzed to estimate the sensitivity and specificity of HLA genetic testing as a prognostic marker for erosive disease. A rapid allele specific DNA hybridization assay was performed on an automated instrument using a solid phase nonradioactive hybridization and detection system. Depending on the patient population being tested, from 70-80 percent of patients with progressive erosive disease carry one or more of the DR4 cluster of RA susceptibility genes (DRB1*0401, 0404, 0405). Sensitivity is increased by including other shared epitope positive alleles, but at the expense of specificity. The rapid automated genetic testing system correctly identified each of more than 200 samples tested, with no false positives. HLA genetic testing for RA susceptibility alleles can be performed rapidly and accurately. Prognosis for erosive disease can be facilitated in the patient with early pre-erosive RA using HLA testing in combination with other clinical assessment variables.

Arthritis, Rheumatoid↗

PubMed1992

Development of a specific-locus assay in the ad-3 region of two-component heterokaryons of Neurospora: a review.

In recognition of the need for a more comprehensive data base for genetic risk assessment of human exposure to mutagenic agents in the environment, a model system was developed for specific-locus studies in Neurospora crassa. This lower eukaryotic organism permits the utilization of microbial techniques for recovery of large numbers of specific-locus mutations at two closely linked loci as well as their subsequent genetic analysis. In particular, this assay makes possible exploratory experiments with different environmental mutagens to obtain data on a wide variety of experimental conditions. Such data make it possible to study induction kinetics and mutational spectra in a manner that is not as yet feasible in higher eukaryotic organisms. The adenine-3 (ad-3) specific-locus assay was modeled after the 2-gene, morphological specific-locus assay in the dilute-short-ear region of the mouse, and it also detects forward-mutations at two closely linked loci, namely, ad-3A and ad-3B. Because ad-3 mutations are recovered by a direct method, based on the accumulation of a reddish-purple pigment in the vacuoles of the mycelium rather than their requirement for adenine, this system is both a morphological and biochemical specific-locus assay. The use of the ad-3 assay system in experiments with different environmental mutagens has provided precise dose-response curves not only for inactivation, but also the overall induction of ad-3 mutations. Genetic characterization of these ad-3 mutations by a series of 3 rapid and simple genetic tests permits the identification of 18 subclasses of gene/point mutations, and 12 subclasses of multilocus deletion mutations. These subclasses also include 3 different classes of multiple-locus mutations with separate sites of recessive lethal damage either in the immediately adjacent regions or elsewhere in the genome. In summary, this specific-locus assay provides a capability that is unique among eukaryotic organisms for the recovery and analysis of genetic damage at 2 closely linked loci.

Adenine↗

PubMed2006

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil.

The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil, we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast cancer from a large public hospital and two private medical clinics in the city. A detailed family history was obtained from each patient and a blood sample was obtained for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. Overall, nine mutations were identified (six in BRCA1 and three in BRCA2) representing 2.3% of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56% of all identified mutations. A second mutation, in BRCA2 (6633del5) was seen in two unrelated women. In summary, BRCA1 and BRCA2 mutations are not uncommon in Brazilian women with breast cancer. It appears that a small number of founder mutations may be predominant. Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil.

Adult↗

PubMed1991

A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.

A new screening method involving the multiplex polymerase chain reaction was developed to detect dystrophin gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Eleven exonic regions including deletion "hot spots" were analyzed. Gene deletions were found in 33% of 92 unrelated Japanese patients, mainly in the central portion (exons 43-52) and at the 5' end (exons 1-17). This is a useful laboratory test for the rapid genetic diagnosis of DMD/BMD.

Asian People↗

PubMed1994

Genetic testing: an economic and contractarian analysis.

Medical researchers are rapidly identifying the genetic causes of many diseases. Genes that increase the risk of contracting Alzheimer's, colon and breast cancer, Huntington's, cystic fibrosis and numerous other diseases have been identified. Genetic tests can reveal an individual's probable health status many years in advance of sickness. Many fear that this will lead to 'genetic discrimination' in the employment and health insurance markets. Solutions such as consent laws are impractical and create adverse selection problems. A new form of insurance, genetic insurance, can eliminate these problems and allow everyone to be insured.

Actuarial Analysis↗

PubMed1999

Genetics in obstetricians' offices: a survey study.

OBJECTIVE: To investigate obstetricians' genetic knowledge base and practice trends. METHODS: A questionnaire survey was sent to 1003 ACOG Fellows, 554 (55%) of whom responded. Results from the 446 respondents practicing obstetrics are reported. RESULTS: The majority of obstetricians surveyed (85.6%) reported completing standardized genetic-history forms for prenatal patients, and about half (48%) performed their own invasive diagnostic procedures. Most (87%) had access to genetic counselors. For aneuploidy risks associated with advanced maternal age, up to 69% of respondents provided at least some patient counseling in their offices. Physician knowledge of risk assessment and diagnostic testing in the areas of aneuploidy and neural tube defects was very good; however, for single-gene disorders such as cystic fibrosis, Tay-Sachs disease, and sickle cell disease, correct risk assessment or appropriate test selection presented difficulties for at least half of the respondents. Respondents cited the rapidity of changes in genetic testing as the greatest obstacle to providing genetic information to patients. CONCLUSION: Obstetricians' knowledge of inheritance and test selection pertaining to single-gene disorders was more limited than that for aneuploidy and neural tube defects. Comparable deficits were noted in patient-education efforts for single-gene disorders.

Congenital Abnormalities↗

PubMed2002

Current understanding of the epidemiology and clinical implications of BRCA1 and BRCA2 mutations for ovarian cancer.

Genetic testing for susceptibility to ovarian cancer is rapidly becoming integrated into the clinical practice of oncology. Genetic testing for BRCA1 and BRCA2 is now recommended to most women with invasive ovarian cancer. Approximately 10% of these women will have a positive test, including 4% of women without a family history of cancer. Currently, the treatment of hereditary ovarian cancer is the same as for non-hereditary ovarian cancer. It appears that women with ovarian cancer and a BRCA mutation experience better survival than women without a mutation, possibly due to enhanced susceptibility to chemotherapy. Strategies for prevention of ovarian cancer among carriers include oral contraceptives, tubal ligation and prophylactic oophorectomy.

Biomarkers, Tumor↗

PubMed2003

Quality assurance in human molecular genetics testing: status and recommendations.

OBJECTIVE: The role of genetic testing has expanded with rapidly developing technology and completion of the International Human Genome Project. Development of universally acceptable quality control methods and quality assurance standards trails technology. The principle that high-quality genetic testing is important for public health motivated the Centers for Disease Control and Prevention to formulate ways for improving quality assurance of human molecular genetics testing. PARTICIPANTS: Twenty-eight panelists were chosen based on expertise in molecular genetics testing and knowledge of quality assurance practices. Representatives of professional organizations, industries, and federal agencies participated in one or more of 3 panel meetings. Consensus recommendations were developed by the 15 panelists in the third meeting. EVIDENCE: Evidence was derived from experts' opinion during 3 panel meetings. Data compiled through laboratory visits and literature review were used as reference information. Need for this project was derived from the Final Report of the Task Force on Genetic Testing, produced by the National Institutes of Health and the Department of Energy in 1997, and the Summary Report of the Subcommittee Meeting on Genetics of the Clinical Laboratory Improvement Act Advisory Committee in 1997. CONSENSUS PROCESS: Research and development needs were identified using a participatory visioning approach. A modified nominal group process was used to reach consensus. CONCLUSIONS: Five core consensus recommendations were made: research for developing positive samples for quality assurance purposes, performance evaluation programs supplementing those in existence, establishment and support of laboratory-oriented consortia, establishment of a laboratory-focused database, and support of molecular genetics training programs.

Centers for Disease Control and Prevention, U.S.↗

PubMed2003

Genetic laboratory practices related to testing of the GJB2 (Connexin-26) gene in the United States in 1999 and 2000.

Given the rapidly growing area of molecular genetic laboratory testing, we sought to assess changing issues over a 2-year period of time pertaining to the availability of testing for GJB2 mutations associated with non-syndromic hearing loss. Laboratory assessments carried out by telephone interviews with directors or other key personnel revealed variations among laboratories in informed consent practices, evaluation of test requests for appropriateness, and the reporting of results. From 1999 to 2000, referral patterns shifted as did sources for reimbursement, policies regarding evaluation of incoming test requests, and reporting procedures. We propose that these results reflect changes occurring as a result of a new test moving from the research to the clinical phase.

Connexin 26↗

PubMedDate not supplied

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system.

As the Human Genome Project is generating an avalanche of genetic information, molecular researchers and clinical practitioners are setting new criteria for evaluation of the links between newly discovered gene mutations and human disorders. These requirements necessitate the development of highly accurate and yet rapid automated systems for genetic testing. We describe the detection of a single nucleotide polymorphism (SNP) on the human Y chromosome with the fully automated, sensitive, and rapid system WAVE designed for DNA fragment analysis. This new technology, based on temperature-modulated liquid chromatography and a high-resolution matrix, offers new dimensions to the molecular biology research. The versatility of the WAVE makes the equipment a universal molecular biology stations for clinical and research facilities. The key aspects to setting the operating parameters are discussed.

DNA↗

PubMed1990

Multivariate genetic evaluation in swine combining data from different testing schemes.

A computational strategy is presented that allows rapid implementation of genetic evaluations using multivariate mixed models. Data generated in different testing programs such as field tests of boars and gilts, litter recording schemes and station tests of sibs may be combined to provide an estimate of the aggregate genotype. Residual and additive genetic covariance structures are given for the multivariate evaluation of individual measurements and group averages because they often are collected for sib groups at test stations using a modified animal model. Pseudo code is given for the implementation of a "generic" testing structure illustrated by a numerical example based on six traits from field tests of boars and four traits from station tests of sibs. BLUPs for all six traits are calculated for boars, parents and sib groups. Aggregate genotypes that correspond to the selection indices commonly used are calculated for selection candidates.

Algorithms↗

PubMed1997

Prenatal genetic carrier testing using triple disease screening.

CONTEXT: Rapid progress in gene discovery has dramatically increased diagnostic capabilities for carrier screening and prenatal testing for genetic diseases. However, simultaneous prenatal carrier screening for prevalent genetic disease has not been evaluated, and patient acceptance and attitudes toward this testing strategy remain undefined. OBJECTIVE: To evaluate an educational, counseling, and carrier testing program for 3 genetic disorders: Tay-Sachs disease (TSD), type 1 Gaucher disease (GD), and cystic fibrosis (CF) that differ in detectability, severity, and availability of therapy. DESIGN: Potential participants received education and genetic counseling, gave informed consent, chose screening tests, and completed pre-education and posteducation questionnaires that assessed knowledge, attitudes toward genetic testing, and disease testing preferences. SETTING: Medical genetics referral center. PATIENTS: Volunteer sample of 2824 Ashkenazi Jewish individuals enrolled as couples who were referred for TSD testing. INTERVENTION: Genetic counseling, education, and if chosen, genetic testing for any or all 3 disorders. MAIN OUTCOME MEASURE: Acceptance of screening for each of the 3 disorders. Secondary outcomes include attitudes toward genetic testing and reproductive considerations. RESULTS: Of the 2824 individuals tested for TSD, 97% and 95% also chose testing for CF and GD, respectively. The frequency of detected carriers was 1:21 for TSD, 1 :25 for CF, and 1:18 for GD. Twenty-one carriercoupleswere identified, counseled, and all postconception couples opted for prenatal diagnosis. Pre-education and posteducation questionnaires revealed that patients initially knew little about the diseases, but acquired disease information and increased knowledge of genetic concepts. Education and genetic counseling increased understanding and retention of genetic concepts and disease-related information, and minimized test-related anxiety. Although individuals sought screening for all 3 diseases, reproductive attitudes and decisions varied directly with disease severity and treatability. CONCLUSIONS: These findings emphasize the importance of genetic counseling for prenatal carrier testing and may improve understanding, acceptance, and informed decision making for prenatal carrier screening for multiple genetic diseases.

Adult↗

PubMed2000

Genetic testing: a physician's perspective.

Progress in DNA diagnostics has been extremely rapid. We sought to determine attitudes, awareness, and knowledge of genetic testing by physicians affiliated with the Mount Sinai Medical Center. We surveyed 363 physicians within whose fields genetic testing for various diseases and disorders exist. Physicians' awareness of and opinions regarding testing, attitudes toward counseling, knowledge of the field, and interest in further education were assessed. Three hundred forty-one (341) physicians were determined to be eligible for the study and, of these, 89 (26%) returned completed surveys. Of the respondents, 71% rated their knowledge of genetics and genetic testing as "fair" to "poor"; only 37% read articles concerning genetic testing on a regular basis. Physician awareness of currently available testing produced a bell-shaped distribution. Knowledge regarding Mendelian genetics yielded a bimodal distribution, and knowledge reflecting an understanding of the mechanics behind genetic testing produced a bell-like curve, skewed to the right. Those who identified themselves as practicing within an "academic" setting scored significantly higher on the Mendelian genetics and testing mechanics sections than those practicing in a "private" setting. Ninety-eight percent (98%) of the physicians said they would refer their patients to a genetic counselor. Although 91% of the respondents were aware of the existence of genetic counseling services, only 71% were aware of the services available at major New York medical centers. Of those aware of counseling services, 53% had referred a patient to them, and 83% of those who referred were "mostly" to "very" satisfied with the counseling. Ninety-five percent (95%) of the physicians believed that the doctor, among others, has the responsibility to counsel patients about genetic testing, yet only 51% felt that they had the time. No statistically significant preference was found concerning the methods for gaining further education or information about genetic testing. Further education for physicians is required in order for them to accurately convey the risks and benefits of genetic testing to their patients. Furthermore, awareness of the counseling services available within the New York area needs to be heightened in order to provide physicians and patients with the specific services they desire. The most efficient and effective methods for providing information and for heightening awareness need to be determined through additional research.

Clinical Competence↗

PubMed1995

Laboratory diagnosis of tuberculosis: past, present, and future.

Resurgence of tuberculosis justifies extraordinary efforts to expedite TB diagnosis and susceptibility testing. This demands that laboratory support expand to a "second generation" of methods and procedures, including rapid availability of fluorochrome smears of concentrated specimens, faster techniques for detection (e.g., the BACTEC radiometric broth system and microcolony detection), quicker identification (e.g., high-pressure liquid chromatography, nonisotopic genetic probes), more rapid susceptibility testing methods (e.g., BACTEC), and reporting of these results as critical values. Guidelines have been established for turnaround time for results of smears, TB organism identification, and susceptibility testing to usual first-line drugs. A "third generation" of laboratory techniques soon will make testing not only more effective but also more efficient. These methods include direct testing of respiratory specimens through nonisotopic genetic probes as well as nucleic acid amplification techniques utilizing polymerase chain reaction (PCR) and other molecular procedures. These new procedures and protocols place heavy demands on laboratory test volume, technologist time and costs. For the healthcare system or clinical laboratory without the resources to deal with these new demands, referral of TB specimens represents a reasonable alternative, as long as transport is adequate to meet current CDC and other guidelines for turnaround time.

Bacteriological Techniques↗

PubMed2000

A curriculum for environmental genetics education.

INTRODUCTION: Environmental genetics is a scientific area concerned with interactions between genes and the environment. Progress in this field, coupled with the growth in genetic testing, has great potential for improving human health. There are also ethical, legal, and social concerns surrounding advances in environmental genetics and genetic testing. Because genetic information is rapidly increasing in our society, the public needs to learn more about scientific progress and policy issues in these areas. OBJECTIVE: To describe a curriculum for the public on environmental genetics and genetic testing. PROGRAM: In 1998, the Department of Environmental Health (Center for Environmental Genetics), University of Cincinnati, began an outreach project for the public called Learning Exchange for Genetic and Environmental Disease Solutions (LEGENDS). The project fosters awareness and understanding of environmental genetics and genetic testing with discussion of related policy issues. The curriculum includes brief lectures and discussions based on thematic modules and a set of interactive exercises to be conducted in small groups. More than 100 persons have attended instructional sessions sponsored by LEGENDS at the time of this writing. SIGNIFICANCE: The curriculum appears to be a potentially useful resource for educating the public about environmental genetics, genetic testing, and related policy issues. This project has implications for other organizations working to further genetics education.

Confidentiality↗

PubMed1976

Genetic studies of coliphage P1. III. Extended genetic map.

An extensive genetic map of coliphage P1 has been constructed for 113 amber mutants, using primarily a modification of the conventional complementation spot test. These spot tests failed to classify the mutants into cistrons, but when they were quantitated they permitted assignment of the mutants into 10 linkage clusters. Furthermore, a linear order could be deduced for most of the mutants within each cluster. This strongly suggested that recombination was the predominant event generating plaques and that, for the practical purpose of rapid genetic mapping, such spot tests could be considered as a series of two-factor crosses. Six of the 10 linkage clusters correlated with the P1 genetic map established by Scott (1968). The locations of the remaining four clusters were determined by three-factor crosses and by prophage deletion mapping. The nonrandom occurrence of termini for 14 deletion prophages, which we established previously (Walker and Walker, 1975), and the coincidence of these termini with five out of ten regions demarcating the linkage clusters are discussed. Complementation tests in liquid frequently gave ambiguous results. Therefore, cistron designations were not assigned.

Chromosome Mapping↗

PubMedDate not supplied

Genetic tests and their evaluation: can we answer the key questions?

The rapid pace of research in the field of genetics has already yielded many benefits. The development of new genetic tests is one such example. Before there can be widespread uptake of these tests they need to be evaluated to confirm the benefits of their use. The authors review some of the key features of the evaluation of diagnostic tests focusing on analytical and clinical validity. Test properties such as sensitivity, specificity, likelihood ratios, positive and negative predictive values, and how they relate to molecular genetic testing are discussed. Associated issues such as the concepts of disease definition, imperfect reference standards, and false positives are also explored. The authors suggest possible approaches to addressing some of the problems identified.

Evaluation Studies as Topic↗

PubMed2004

Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients.

PURPOSE: Approximately 5% to 10% of newly diagnosed breast cancer patients carry a BRCA1 or BRCA2 mutation. Given these patients' high risk for contralateral breast cancer, bilateral mastectomy is increasingly considered a treatment option for newly diagnosed BRCA1/2 carriers. In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation. PATIENTS AND METHODS: Participants were 194 newly diagnosed breast cancer patients who had not yet received definitive surgical treatment and who had at least a 10% prior probability of carrying a BRCA1/2 mutation. Participants were offered free genetic counseling and rapid BRCA1/2 testing. Primary analyses focused on the impact of BRCA1/2 test result on subsequent breast cancer surgical treatment. RESULTS: Forty-eight percent of patients who were found to carry a BRCA1/2 mutation chose bilateral mastectomy as their definitive breast cancer surgery. In contrast, 24% of patients in whom no mutation was detected and 4% of test decliners opted for bilateral mastectomy. Additional predictors of bilateral mastectomy included patients' self-reports of physician recommendations for BRCA1/2 testing and bilateral mastectomy. CONCLUSION: This study highlights patient interest in and the technical feasibility of offering presurgery BRCA1/2 testing to high-risk patients. Most importantly, these results demonstrate that BRCA1/2 test results significantly affect patients' surgical decision-making. The availability of genetic counseling and testing could serve as a valuable aid to patient decision-making for newly diagnosed breast cancer patients at high-risk for carrying a mutation.

Adult↗