Genomic resource centre

Quality & Safety in Genetic Testing: An Emerging Concern


Internationally, there has been a growing awareness of the valuable role genetic services can play within health care systems and more recently, of the need to set appropriate standards to ensure that these services are delivered in a manner that addresses social, ethical and safety concerns.

The role of genetic testing within medicine is clearly expanding. Traditionally, genetic testing has served a clinical diagnostic purpose, indicating the presence of monogenetic diseases like thalassemia or cystic fibrosis. Genetic tests have also been a common tool within research institutions. However, with the completion of the Human Genome Project (HGP) and related advances in genomics, the application of genetic tests is certain to become more widespread, within both the developed and the developing world. Genetic tests may soon be applied to a wide variety of illnesses, to indicate genetic predispositions for cancer, heart disease, and other common afflictions. Additionally, genetic tests might be enjoyed to help develop drugs that are personalized to an individual's genetic makeup through pharmacogenomics.

Quality assurance and patient safety are areas that have received attention from departments within the World Health Organization (WHO) for many years; in May 2003, the World Health Organization Executive Board, articulated the need for WHO to take a more systematic approach to these very important issues [1]. The aim of this section is to address the emerging concerns about quality and safety of medical genetic tests.

Although advances in genomics hold the potential for a range of preventive medical interventions of great value, risks to patients are also emerging. Laboratory regulation and accreditation measures have not kept pace with the growing demand for genetic tests. Complicated laboratory issues related to gene heterogeneity and identification of rare genetic disorders mean that the accuracy of these tests should be met with appropriate quality control guidelines. The results of a genetic test can have a considerable impact on the life of a patient and his or her family; it is therefore essential that the quality of the test be assured, which includes the provision of non-directive counselling and other support services. Because information from genetic tests is often probabilistic in nature, test results should be reported by a professional who can help patients understand what the results mean. Additionally, because of the nature of genetic tests and the information they generate, ethical, legal, and social implications must be addressed. Within the context of patient safety this means, among other things, developing mechanisms for assuring informed consent for the use of samples, protecting genetic information, as well as protecting patients from unjust discrimination. Quality assurance, which encompasses all the processes that ensure service quality, such as setting standards, evaluating performance, and monitoring outcomes of service, needs to be developed concurrently with advances in genetic testing in order to protect patients from misinformation, and avoidable harm. The use or misuse of genetic testing will largely be a function of the ability of existing healthcare structures to erect adequate quality assurance programmes as the demand for genetic testing continues to expand.


[1] World Health Organization Executive Board. Genomics and World Health: Report of the Advisory Committee on Health Research. 112th Session, Agenda Item 4.2. April 2003.