This effort gathered detailed technical information to characterize the focus of quality assurance and proficiency testing/performance programs for molecular genetic testing for human heritable diseases.
 

Examinations of the technologies used in molecular genetic testing (nucleic acid amplification, DNA sequencing, southern blot analysis and fluorescent in situ hybridization) have resulted in five major recommendations (to CDC) that form the basis of a MGT/QA action plan:

1. Conduct pilot research to develop positive controls and test samples for performance evaluation programs.
    
2. Develop performance evaluation programs to supplement those that already exist.
    
3. Establish laboratory-oriented, disease-specific consortia to provide quality assurance support.
    
4. Establish and link disease-specific databases with other appropriate Internet resources to meet the needs of clinical molecular genetic testing laboratories.
    
5. Improve training and continuing education for clinicians, laboratory scientists, and technicians.