Genetic Testing: Risk of Knowing
Genetic testing carries serious implications. Issues regarding testing circumstances, type of testing, use of results, and testing conditions often raise concerns. Should testing be mandatory? What are privacy and confidential implications of testing? Should patients control what happens with test results? What personal and societal implications does genetic testing carry? Should measures be in place to protect patients from vulnerability due to their genotype?
Can Be Costly
There are several issues to consider when considering genetic testing: Benefits, cost, personal, social and societal implications. Often, when ordered by a physician due to medical necessity, genetic testing is covered by health insurance policies. In other cases, where treatment is unavailable, patients will have difficulty with insurance coverage for testing (Capasso, 2014). To avoid increases in health insurance premiums due to testing results, some patients may choose to pay for testing out of pocket. This approach may prove costly.
False Negative or False Positive Results?
Other issues regarding genetic testing concerns its predictive value. The limited predictive value of some genetic testing may place patients in a position of making difficult decisions with limited information. This may lead to confusion and uncertainties in decision making for patients and clinicians. Due to the screening nature of some genetic testing, the issue of false-positive and false-negative results are often of concern (Anderson, 2013).
Personal vs Societal Implications
Genetic testing is not without personal or societal implications. Not all genetic testing carries treatment interventions, and so, patients with conditions for which there are no treatment interventions may be at risk for psychological harm. Patients may also have concerns of the discriminatory effects of the genetic condition (Perlman, et al., 2015). Some patients may refuse genetic testing, despite qualification, due to fear of losing health insurance coverage or fear of job displacement (Matloff, Bonadies, Moyer, & Brierley, 2014). In addition, genetic conditions may place patients at risk for societal stigmatization. Genetic testing also has the potential to impinge on patient’s autonomy as in the case of mandatory newborn screening for phenylketonuria (PKU) and hypothyroidism.
Anderson, R. A. (2013, January). Newborn screening false-positives and maternal perceived uncertainty. Newborn Screening False-positives & Maternal Perceived Uncertainty, 126 p.
Capasso, J. E. (2014). The cost of genetic testing for ocular disease: who pays?. Current Opinion In Ophthalmology, 25(5), 394-399. doi:10.1097/ICU.0000000000000085
Matloff, E., Bonadies, D., Moyer, A., & Brierley, K. (2014). Changes in Specialists' Perspectives on Cancer Genetic Testing, Prophylactic Surgery and Insurance Discrimination: Then and Now. Journal Of Genetic Counseling, 23(2), 164-171. doi:10.1007/s10897-013-9625-z
Perlman, D. C., Gelpí-Acosta, C., Friedman, S. R., Jordan, A. E., & Hagan, H. (2015). Perceptions of genetic testing and genomic medicine among drug users