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Genetic Testing Quality Practices

Overview

LSPPPO's Division of Laboratory Science and Standards works to ensure and improve the quality of genetic testing in clinical and public health settings. Opportunities are identified through assessment of laboratory practices and use of tests in health care settings and by the public. Efforts to improve the quality of testing include leadership and participation in policy development, educational initiatives, and facilitating the development of reference materials and other standards. Successes have been the result of parternships and collaborations with local, state, national, and international government agencies and professional entities.

Areas of focus

Test ordering and result reporting: critical components of the testing process

Clinical and public health decisions depend on many factors. Of paramount importance is to ensure the appropriate test is ordered for the appropriate reason and that the test result is used to achieve benefits for the patient and the public's health, in the broader context.

Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician Friendly Report (J Mol Diagn 2009;11:162)

The beginning of the second decade of the era of patient safety: implications and roles for the clinical laboratory and laboratory professionals

Next- generation sequencing- Standardization of Clinical Testing

Next-generation sequencing (NGS) is an evolving DNA sequencing technology that has expanded beyond research applications to deliver clinically actionable test results to effectively inform medical decision making. A national workgroup was convened in April 2011 that included experts who develop and/or use NGS. Participants included clinical laboratory directors, physicians, test platform developers, software developers, and researchers. Outcomes from this group will be a set of principles and guidance useful as a framework for implementing NGS into clinical settings for analysis of heritable sequence variation by NGS. Additional information can be found here.

Genetic Testing Reference Materials Coordination Program (GeT-RM)

The goal of the Genetic Testing Reference Materials Coordination Program (GeT-RM) is to coordinate a self-sustaining community process to improve the availability of appropriate and characterized reference materials. Additional information can be found here.

CDC Guidance

Genetic tests are increasingly used in clinical and public health practice, which highlights the need for guidelines to specifically address quality management challenges and ensure the quality of laboratory testing and services. CDC scientists developed recommendations for good laboratory practices for quality management of molecular genetic testing, biochemical genetic testing, and newborn screening for inherited metabolic disorders. These guidance documents focus on:

  • the benefits of the quality management system approach
  • elements of a needs assessment for new genetic test development
  • test validation
  • quality practices for the total testing process
  • confidentiality of patient information and test results
  • laboratory personnel qualifications and responsibilities

These recommendations serve as comprehensive guides to improve the quality of laboratory services for molecular or biochemical genetic testing and ensure the quality of newborn screening laboratories testing for inherited metabolic disorders. The availability of such resources to healthcare professionals facilitates communications between laboratories and the users of these services to improve the appropriate utilization of genetic testing.

MMWR R&R Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, June 12, 2009. Vol. 58, No. RR-6 | PDF Version [PDF 593.10KB]

MMWR R&R Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders | PDF Version [PDF 718.65KB]

Evaluation of the Impact of CDC Good Laboratory Practice Recommendations

In 2013, CDC funded a cooperative agreement with the Association of Public Health Laboratories (APHL) to evaluate the effectiveness and the impact of the CDC guidance “Good Laboratory Practice Recommendations for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders” as the recommended practices are disseminated and used in laboratory quality improvement activities. To assess awareness and use of the recommendations by the key intended audience, two facilitated discussion groups were convened in December 2013 with laboratory professionals in biochemical genetic testing (BGT) and public health newborn screening (NBS) laboratories. The results and feedback from the discussion groups are summarized in this report

Utilization of CDC Recommendations for Good Laboratory Practices in Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Diseases: Current Status, Lessons Learned and Next Steps to Advance and Evaluate Impact

Educational Products

A competent, educated workforce is necessary to ensure the quality of laboratory testing services.

Teaching clinicians about genetic testing - Genetics in Clinical Practice: A Team Approach

This web-delivered interactive, multimedia educational program is designed to teach medical students and practicing clinicians about genetic testing in primary care practice. The program engages the learner with case-based scenarios in a virtual clinic environment to simulate patient encounters.

Good Laboratory Practices for Molecular Genetic Testing

This course is intended to help laboratory and healthcare professionals understand recommended good laboratory practices and enhance competencies for molecular genetic testing. Through this online learning module, a life-like situation is presented in which a laboratory is planning to introduce its first molecular genetic test for a heritable disease. A team of laboratory staff including the laboratory director, a medical geneticist, and senior technologists is formed to address all quality management needs and develop procedures for ensuring the quality of the new test. The learner enters the course as a member of the laboratory team and completes tasks and assignments throughout the course. Upon successful completion of the training, continuing education credits are awarded in the following categories: ASCLS P.A.C.E., CME for physicians and non-physicians, and Florida Laboratory Licensure. This training course is a CDC collaboration with the National Laboratory Training Network (NLTN)/Association of Public Health Laboratories (APHL).

Topics covered by this comprehensive training course include:

  • regulatory compliance for good laboratory practices
  • personnel qualifications and responsibilities
  • establishment and verification of test performance specifications
  • preparation of new test information for clinical users
  • informed consent, molecular genetic test requests
  • quality control practices
  • proficiency testing and alternative performance assessment
  • test reports
  • retention issues
  • quality management practices

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