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Biomedical subjects

Ira M Lubin

Publications and source records attributed to Ira M Lubin.

9 recordsLinked to original sources
PubMed2005

Developing a sustainable process to provide quality control materials for genetic testing.

PURPOSE: To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials available to the genetic testing community. METHODS: Participants were selected to include experts in genetic testing and molecular diagnostics from professional organizations, government agencies, industry, laboratories, academic institutions, cell repositories, and proficiency testing (PT)/external Quality Assessment (EQA) programs. Current efforts to develop QC materials for genetic tests were reviewed; key issues and areas of need were identified; and workgroups were formed to address each area of need and to formulate recommendations and next steps. RESULTS: Recommendations were developed toward establishing a sustainable process to improve the availability of appropriate QC materials for genetic testing, with an emphasis on molecular genetic testing as an initial step. CONCLUSIONS: Improving the availability of appropriate QC materials is of critical importance for assuring the quality of genetic testing, enhancing performance evaluation and PT/EQA programs, and facilitating new test development. To meet the needs of the rapidly expanding capacity of genetic testing in clinical and public health settings, a comprehensive, coordinated program should be developed. A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs.

Centers for Disease Control and Prevention, U.S.↗
PubMed2005

Results of a survey of hospital coagulation laboratories in the United States, 2001.

CONTEXT: Coagulation and bleeding problems are associated with substantial morbidity and mortality, and inappropriate testing practices may lead to bleeding or thrombotic complications. OBJECTIVE: To evaluate practices reported by hospital coagulation laboratories in the United States and to determine if the number of beds in a hospital was associated with different practices. DESIGN: From a sampling frame of institutions listed in the 1999 directory of the American Hospital Association, stratified into hospitals with 200 or more beds ("large hospitals") and those with fewer than 200 beds ("small hospitals"), we randomly selected 425 large hospitals (sampling rate, 25.6%) and 375 small hospitals (sampling rate, 8.8%) and sent a survey to them between June and October 2001. Of these, 321 large hospitals (75.5%) and 311 small hospitals (82.9%) responded. RESULTS: An estimated 97.1% of respondents reported performing some coagulation laboratory tests. Of these, 71.6% reported using 3.2% sodium citrate as the specimen anticoagulant to determine prothrombin time (81.3% of large vs 67.7% of small hospitals, P < .001). Of the same respondents, 45.3% reported selecting thromboplastins insensitive to heparin in the therapeutic range when measuring prothrombin time (59.4% of large vs 39.8% of small hospitals, P < .001), and 58.8% reported having a therapeutic range for heparin (72.9% of large vs 53.2% of small hospitals, P < .001). An estimated 96.3% of respondents assayed specimens for activated partial thromboplastin time within 4 hours after phlebotomy, and 89.4% of respondents centrifuged specimens within 1 hour of collection. An estimated 12.1% reported monitoring low-molecular-weight heparin therapy, and to do so, 79% used an assay for activated partial thromboplastin time (58% of large vs 96% of small hospitals, P = .001), whereas 38% used an antifactor Xa assay (65% of large vs 18% of small hospitals, P = .001). CONCLUSIONS: Substantial variability in certain laboratory practices was evident. Where significant differences existed between the hospital groups, usually large hospitals adhered to accepted practice guidelines to a greater extent. Some reported practices are not consistent with current recommendations, showing a need to understand the reasons for noncompliance so that better adherence to accepted standards of laboratory practice can be promoted.

Anticoagulants↗
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↗
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

Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States.

CONTEXT: It has been suggested that specific regulation of laboratories performing genetic testing may be needed to ensure standards and quality assurance, and to safeguard the rights of patients with regard to confidentiality and providing informed consent. Previously, a comprehensive analysis of current practices of molecular genetic testing laboratories was conducted, the results of which have assisted in the assessment of the need for regulation and its impact on access to testing. However, a study designed to determine clinical laboratory practices with regard to biochemical genetic testing has not been carried out. OBJECTIVE: To collect and analyze data regarding availability of clinical biochemical genetic testing, personnel standards, and laboratory quality assurance practices. DESIGN: A mail survey of biochemical genetic testing laboratory directors and assignment of a quality assurance score based on responses to genetic testing process items. SETTING: Hospital-based, independent, and research-based biochemical genetic testing laboratories in the United States. PARTICIPANTS: Directors of biochemical genetic testing laboratories (n = 133; response rate 68.5%). MAIN OUTCOME MEASURE: Laboratory process quality assurance score based on the standards defined by the American College of Medical Genetics Laboratory Practice Committee. RESULTS: Personnel qualifications varied, although all directors had doctoral degrees. The mean quality assurance score was 77% (range 28%-100%). Higher scores were associated with the following variables: test director having an MD degree versus PhD degree (P = .002), director board certification in biochemical genetics (P = .002), research and hospital laboratory versus independent laboratory setting (P < .001), and participation in a proficiency testing program (P = .03). Twelve percent of participants had a confidentiality policy, and 19% required informed consent before testing. CONCLUSION: The finding that a number of laboratories had quality assurance scores that may reflect suboptimal laboratory practices, particularly with regard to reporting practices, suggests that personnel qualification and laboratory practice standards may be in need of improvement to ensure quality in clinical biochemical genetic testing laboratories, as well as the appropriate clinical use of the test results.

Genetic Diseases, Inborn↗
PubMedDate not supplied

A primer on genetic testing.

Use of genetic tests in the clinical practice setting is a current reality, and an increasing number of patients are asking about and requesting genetic testing. The push to translate genetic research findings and technological innovations into clinical practice will continue as our understanding of the genetic basis of disease increases. Special consideration is required when ordering genetic tests, beyond that of other laboratory tests, and an understanding of the unique aspects involved will help optimize clinical outcomes. The purpose of this primer is to provide a basic understanding of genetic testing, discuss current issues related to the use of tests, and outline practical steps for critically using genetic tests in clinical practice.

Genetic Techniques↗
PubMedDate not supplied

Medical genetic test reporting for cystic fibrosis (deltaF508) and factor V Leiden in North American laboratories.

PURPOSE: Physicians are ordering an increasing number of genetic tests. Results and additional information provided in the test result report are vital to the physician in making appropriate patient management decisions. Because variability in test result reports can impact patient care, we sought to determine whether variations exist in test reports for cystic fibrosis (CF) and factor V Leiden (fVL) with specific comparison to professional guidelines and recommendations. METHODS: A cross-sectional study design analyzing for the presence of 16 critical elements in CF reports and 12 critical elements in fVL reports solicited from United States and Canadian laboratories. RESULTS: Of 44 laboratories performing CF testing and 72 laboratories performing fVL testing, 64% responded. For CF reports, 21% included ethnicity, 64% described methodology, and 61% discussed genetic counseling. For fVL reports, 80% described methodology and 52% discussed the need for genetic counseling in mutation-positive reports. CONCLUSIONS: Variability exists in report content among North American laboratories performing CF and fVL testing. Many reports lack information deemed critical by professional guidelines and recommendations.

Cross-Sectional Studies↗
PubMedDate not supplied

Physicians' perceived usefulness of and satisfaction with test reports for cystic fibrosis (DeltaF508) and factor V Leiden.

PURPOSE: We sought to determine whether variation in test-report content for cystic fibrosis (CF DeltaF508) and factor V Leiden (fVL) would impact physician-perceived usefulness of and satisfaction with test reports. METHODS: A cross-sectional survey of US physicians from specialties likely to order the tests was performed. Physicians received an introductory letter with a clinical scenario, one randomly assigned mock report, and a one-page survey. The analyses evaluated usefulness of and satisfaction with report elements. RESULTS: For CF and fVL, there were significant differences by mock-report version for most of the survey report items (P < 0.05) and for satisfaction (P < 0.0001); results revealed greater usefulness and satisfaction with more comprehensive reports. The three items in CF and fVL reports where physician-perceived usefulness was most highly correlated (R > 0.70) with satisfaction were (1.clinical decision-making information, (2). genetic counseling information, and (3). implications for family members. CONCLUSION: Opportunities exist to improve the usefulness of genetic test reports in clinical practice.

Attitude of Health Personnel↗