Human Genomics in Global Health

Support structures

Although the actors described above often have special functions, many of them also engage in overlapping work to help sustain and advance quality concerns. They therefore make up a varied group whose roles cut across those described above. In some cases, other actors like academic institutions are also involved. Highlighted below are some of the structures that exist to support improved quality assurance.

External Quality Assurance/Proficiency Testing Services - Central to maintaining quality is the provision of standardized samples to genetic testing laboratories, so that they may test their performance against an external "check". In some countries, governmental, nongovernmental and professional bodies, all provide external quality assurance for laboratories. Often, proficiency testing is voluntary, though it may also be required as part of laboratory accreditation. Expanding external quality assurance programs, and integrating them into accreditation and laboratory regulation, has been a central thrust of lawmakers in several countries.

Laboratory Directories - There is currently a general lack of information about which laboratories perform genetic tests, and for those that do, about which genetic tests they perform. Laboratory directories provide the most accurate information about genetic tests done by clinical laboratories, though many are not regularly updated because participation in a laboratory directory is voluntary. These directories can be helpful for clinicians locating genetic testing facilities, particularly for rare genetic disorders.

Research is, of course, a necessary part of sustaining and advancing genetic testing quality assurance, and is diverse in scope. Outcomes research can help indicate whether current quality standards are in fact achieving acceptable results for patients, and can point to areas where quality assurance is particularly needed. Currently, research is being done to develop large quantities of standardized samples for laboratories, because a major barrier to expanding external quality assurance schemes is the lack of standardized test material. Research is also being performed on genetic test development itself, with the aim of developing tests for a wider set of (often more complex) conditions and improving the effectiveness of existing genetic tests.