Genomic resource centre

Genetic testing

Genetic testing

The role of genetics and the environment in the onset of many major noncommunicable diseases particularly monogenic diseases is well established. Consequently, genetic testing is gaining recognition for the many advantages it has to offer in the prevention, management and treatment of disease. Among their many uses, genetic tests most commonly present an opportunity for individuals to become informed about their genetic predisposition to disease, and for couples to be aware of the possible genetic characteristics of their unborn children. Stemming from the informative potential of genetic testing some critical ethical, legal and social issues come to the forefront.

The Individual’s right to choose.

In an effort to reduce genetic diseases, especially those peculiar to certain populations, many communities encourage couples to perform genetic testing prior to marriage as well as on the fetus during pregnancy, to determine any risk of disease. While this strategy has effectively reduced the prevalence of some genetic diseases like thalassaemia, for which there is still no cure, it is argued by some that it limits the individual's freedom of choice. Couples may be coerced into genetic testing with little regard for obtaining their free and informed consent. This is particularly true for women who are often under pressure to conform to their family decisions. For example, a few countries require couples to undergo testing for thalassaemia prior to marriage. Though couples are not forced to act upon any knowledge of risks, there is considerable social pressure to prescribe to advocated medical interventions . The pressure is twofold as the couple is first compelled to get tested, and then to act a certain way in light of the diagnosis. This is especially so in low to middle income countries where treatment is expensive, not many options are available for parents and the termination of a pregnancy may be viewed as the most practical response in economic insufficiency. On the other hand genetic tests may provide individuals, who seek them freely, with information needed to make important decisions about their future, therefore supporting their right to make a informed choice.

Confidentiality

As with other areas of clinical medicine or science, confidentiality is important in genetic testing. If anything, the confidentiality of genetic information may need to be guarded even more stringently than in the ordinary case. Genetic tests give an assessment of an individual's inherent risk for disease and disability. This predictive power makes genetic testing particularly liable for misuse. Employers and insurance companies have been known to deny individuals essential health care or employment based on knowledge of genetic disposition. This type of discrimination can be socially debilitating and have severe socio-economic consequences. It is important, therefore, to ensure the confidentiality of test results, and to establish legislation permitting only selective access to this information.

Genetic information can have important implications not only for the one who is tested, but also for her relatives. Respecting a patient’s confidentiality by not disclosing the results of a genetic test to third parties can therefore conflict with the well-being of family members, who could benefit from this knowledge. Finding the right balance between the patient’s privacy and confidentiality of her genetic information, and what is in the best interests of family members, is an ongoing ethical and social challenge.

Stigmatisation and discrimination

Knowledge of genetic risks can lead to potential social and psychological consequences for the individual. Socially, knowledge from genetic tests may lead to stigmatization and discrimination within the community. Refusing to undergo genetic testing as well as choosing to undergo genetic testing can both lead to discrimination and stigmatization depending on the prevalent social norms regarding acceptance and use of the technology. Further, knowledge of test results may lead to the marginalisation of the individual from mainstream society by virtue of the health risks identified. Discrimination can be in the form of denial of health insurance, employment or simply social acceptance. In particular, knowledge of risk of disease may be used by health insurance providers and employers to deny individuals employment , benefits and allowances and medical coverage or health insurance. This is especially worrisome in communities that rely heavily on private insurance systems as a source of funding for necessary medical treatments. On the other hand within the context of a well informed community integrated clinical and social support systems which include counselling services for patients and their families, knowledge of genetic disease or predisposition can lead to better care and management of the patient and ultimately to improved quality of life.

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