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Overview of Adequacy Assessment

The adequacy assessment of genetic testing is an assessment system designed to ensure that genetic testing can be applied with reasonable scientific and clinical evidence while continuously minimizing social and ethical issues . The Korean Institute of Genetic Testing Evaluation (KIGTE) secures scientific evidence for genetic tests considered to have uncertain clinical evidence when used on healthy individuals. KIGTE is also developing guidelines for the appropriate use of genetic testing through debates with various related expert groups for each gene.

The Necessity of Adequacy Assessment
Considerations for using genetic testing for human-health related purposes
There may be a gap between the diagnosis and treatment.

For most genetic disorders, there are no effective treatments yet to improve treatment outcomes . Although it is not relatively difficult to devise genetic diagnostic methods for most Mendelian disorders, it is commonly believed that devising treatments or preventive methods for these disorders are much more difficult. Serious ethical considerations are needed for this gap in treatment .

Normal results cannot completely exclude the possibility of future incidences of the disease.

Even in single-gene disorders, depending on the test method, it may not be possible to detect all genetic mutations that cause the disease. In complex genetic disorders, it is common to find the disease occur even though all known risk gene mutation tests obtained normal results.

Even if a genetic test result is positive, this does not necessarily mean an inevitable incidence of the disease.

This is particularly problematic in complex genetic disorders. Even if a disease occurs, it is difficult to predict the timing and severity of the disease, as well as its response to treatment.

The necessity of an adequacy assessment
  • With the completion of the Human Genome Project in 2003, genetic testing, which was mainly used in the field of research , is rapidly expanding into practical areas such as clinical practice and prevention. Genetic information obtained through genetic testing does not simply reflect the results at the point of the test but continues to influence individuals or their relatives. In addition, it must be noted that genetic information may lead to a genetic deterministic pattern of behavior or be abused as a means of discrimination or stigma. In order for genetic testing to be appropriately used in clinical practice or public health care, it must be implemented with solid scientific and clinical evidence, and it is crucial to continue efforts to minimize social and ethical issues after its implementation . As a neutral evaluation institute for these activities, the KIGTE has established a system for assessing genetic testing's adequacy and is developing guidelines for genetic items.