Bringing genetics into the clinic: the evolution of genetic testing and counselling

Authored by: Ilana Löwy

Handbook of Genomics, Health and Society

Print publication date:  April  2018
Online publication date:  April  2018

Print ISBN: 9781138211957
eBook ISBN: 9781315451695
Adobe ISBN:


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In the second half of the twentieth century, new biomedical technologies made it possible to detect harmful mutations, including before birth. People with unexplained symptoms learned the cause of their problems, and some received efficient treatment. Other people became aware that they or their offspring were at risk of developing a genetic disease, and were able to act on this knowledge. Moreover, prenatal diagnosis of genetic diseases/impairments, coupled with a possibility of a selective abortion of affected foetuses, and preimplantatory genetic testing, enabled couples at a high risk of transmitting a hereditary disease to have healthy children. Other consequences of clinical genetic testing were more problematic. With the rapid expansion of such testing and a shift from diagnosis of an already existing condition to a diagnosis of risk, people who believed that they were healthy discovered the presence of a previously unsuspected genetic anomaly and faced difficult choices.

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