McGovern M M, Benach M O, Wallenstein S, Desnick R J, Keenlyside R
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.
JAMA. 1999 Mar 3;281(9):835-40. doi: 10.1001/jama.281.9.835.
Specific regulation of laboratories performing molecular genetic tests may be needed to ensure standards and quality assurance (QA) and safeguard patient rights to informed consent and confidentiality. However, comprehensive analysis of current practices of such laboratories, important for assessing the need for regulation and its impact on access to testing, has not been conducted.
To collect and analyze data regarding availability of clinical molecular genetic testing, including personnel standards and laboratory practices.
A mail survey in June 1997 of molecular genetic testing laboratory directors and assignment of a QA score based on responses to genetic testing process items.
Hospital-based, independent, and research-based molecular genetic testing laboratories in the United States.
Directors of molecular genetic testing laboratories (n = 245; response rate, 74.9%).
Laboratory process QA score, using the American College of Medical Genetics Laboratory Practice Committee standards.
The 245 responding laboratories reported availability of testing for 94 disorders. Personnel qualifications varied, although all directors had doctoral degrees. The mean QAscore was 90% (range, 44%-100%) with 36 laboratories (15%) scoring lower than 70%. Higher scores were associated with test menu size of more than 4 tests (P = .01), performance of more than 30 analyses annually (P = .01), director having a PhD vs MD degree (P = .002), director board certification (P = .03), independent (P <.001) and hospital (P = .01) laboratories vs research laboratory, participation in proficiency testing (P<.001), and Clinical Laboratory Improvement Amendment certification (P = .006). Seventy percent of laboratories provided access to genetic counseling, 69% had a confidentiality policy, and 45% required informed consent prior to testing.
The finding that a number of laboratories had QA scores that may reflect suboptimal laboratory practices suggests that both personnel qualification and laboratory practice standards are most in need of improvement to ensure quality in clinical molecular genetic testing laboratories.
可能需要对进行分子基因检测的实验室进行专门监管，以确保标准和质量保证（QA），并保障患者的知情同意权和隐私权。然而，尚未对这类实验室的当前做法进行全面分析，而这对于评估监管需求及其对检测可及性的影响至关重要。
收集并分析有关临床分子基因检测可用性的数据，包括人员标准和实验室做法。
1997年6月对分子基因检测实验室主任进行邮件调查，并根据对基因检测流程项目的回答分配质量保证分数。
美国的医院型、独立型和研究型分子基因检测实验室。
分子基因检测实验室主任（n = 245；回复率74.9%）。
使用美国医学遗传学学会实验室操作委员会标准的实验室流程质量保证分数。
245家回复的实验室报告可检测94种疾病。人员资质各不相同，尽管所有主任都拥有博士学位。平均质量保证分数为90%（范围44% - 100%），36家实验室（15%）得分低于70%。较高分数与超过4项检测项目的检测菜单规模（P = 0.01）、每年超过30次分析的执行情况（P = 0.01）、主任拥有博士学位而非医学博士学位（P = 0.002）、主任获得委员会认证（P = 0.03）、独立实验室（P < 0.001）和医院实验室（P = 0.01）相对于研究实验室、参与能力验证（P < 0.001）以及临床实验室改进修正案认证（P = 0.006）相关。70%的实验室提供遗传咨询服务，69%有保密政策，45%在检测前要求获得知情同意。
一些实验室的质量保证分数可能反映出次优的实验室做法，这一发现表明，为确保临床分子基因检测实验室的质量，人员资质和实验室操作标准最需要改进。
