Monday, March 4, 2013

Genetic Testing

Prenatal Genetic Testing
Prenatal genetic testing can provide information for parents who may have risk factors for genetic defects in their offspring. Further, it can determine the need for additional or specialized preparations during pregnancy or the birthing process (Canick, 2012). In cases of some genetic conditions, preparation and specialized care may lead to better health outcomes for the newborn (Canick, 2012). The downside is that testing causes significant stress for the parents, although it is usually short-term (Lerman et al., 2002).

Abnormal results, however, force parents to make tremendously difficult decisions that carry long-term psychological effects ("A window on the womb," 2006). A downside of prenatal testing is the fetal risk of some types of tests, such as amniocentesis, although less invasive testing methods for genetic screening have become more common at little to no fetal risk ("A window on the womb," 2006). Wilkinson (2006) believed prenatal testing is perceived by some as an attempt to improve the human gene pool. Some individuals may refrain from utilizing genetic testing for this reason, although Reed (2009) found most parents believed prenatal testing was their responsibility to their unborn children.

I would choose to have this type of genetic screening to have the ability to make appropriate decisions and determine the most beneficial resources. Without having the knowledge available through genetic testing, I would feel like a passive player in the critical and significant process of childbearing. I understand, however, that the science of genetic testing places a tremendous burden of choice of prospective parents (Etorre, 2002). Many may choose to avoid that burden, although at the equally burdensome cost of ignorance.

Carrier Testing

Carrier testing may cause longer-term stress when couples test positive as carriers (Lerman et al., 2002). Women who sought testing had a more accurate perception of the gravity of the disease for which they were testing and may have wanted the opportunity to abort the pregnancy. On the other hand, identifying risks and implementing strategies may provide better long-term health outcomes for the unborn child. Lerman et al. (2002) suggested some stigmatization may exist for carriers and may have long-term psychological effects. McCabe and McCabe (2004) argued that when individuals are tested, they may be forced to make long-term decisions with regard to childbearing. With continually advancing science, it is only fair that these individuals are notified of technological advances that may alter their chances for conceiving healthy children, subsequently changing their long-term decisions for childbearing (McCabe & McCabe, 2004).

As with prenatal testing, I would choose to have it for the purpose of being able to utilize the knowledge for decision making appropriate for myself and family. Etorre (2002) believed when helping individuals make decisions based on genetic testing, it is important to refrain from qualifying or placing value, such as economic and social burden, on carrier or fetal status. Labels such as these not only alter individuals' reproductive behavior, but may also have long-term psychological implications (Etorre, 2002).

Predictive Genetic Testing

In some cases, predictive genetic testing may help individuals actively participate in health behaviors that will provide them with best possible health outcomes (Marks, Murray, Evans, & Estacio, 2011), although many genetic diseases have no cure (Lerman et al., 2002). Screening for some diseases, such as diabetes, may help people change lifestyles and eating habits to prevent disease onset (McCabe & McCabe, 2004). It is important when utilizing such testing that users understand the difference between carrying a genetic predisposition and receiving a diagnosis (McCabe & McCabe, 2004). For many diseases, the former does not definitively translate to the latter (McCabe & McCabe, 2004). Having knowledge of disease risk places some control with the patient, namely choosing health behaviors as an arsenal (whether perceived or real) against disease progression (Mendes, Santos, & Sousa, 2011). I would choose genetic testing even for a disease for which there is no preventive care. Having access to the information might lead me to alternative or complementary proactive treatments that had the potential to make a difference.


A window on the womb. (2006). New Scientist, 192(2574), 45.

Canick, J. (2012). Prenatal screening for trisomy 21: recent advances and guidelines. Clinical Chemistry & Laboratory Medicine, 50(6), 1003-1008. doi:10.1515/cclm.2011.671

Ettorre, E. (2002). Chapter 1: Prenatal politics and 'normal patient families'. In Reproductive Genetics, Gender & the Body (pp. 18-36). Taylor & Francis Ltd / Books.

Lerman, C., Croyle, R. T., Tercyak, K. P., & Hamann, H. (2002). Genetic testing: Psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3), 784-797. doi: 10.1037//0022-006X.70.3.784

McCabe, L. L., & McCabe, E. B. (2004). Genetic screening: Carriers and Affected Individuals. Annual Review Of Genomics & Human Genetics, 5(1), 57-69. doi:10.1146/annurev.genom.5.061903.175941

Mendes, A. F., Santos, T. A., & Sousa, L. (2011). Experiencing genetic counselling for hereditary cancers: the client's perspective. European Journal Of Cancer Care, 20(2), 204-211. doi:

Marks, D. F., Murray, M., Evans, B., & Estacio, E. V. (2011). Health Psychology: Theory, Research, and Practice (3rd ed.). London: Sage.

Reed, K. (2009). ‘It's them faulty genes again’: Women, men and the gendered nature of genetic responsibility in prenatal blood screening. Sociology Of Health & Illness, 31(3), 343-359. doi:10.1111/j.1467-9566.2008.01134.x

Wilkinson, S. (2006). Eugenics, embryo selection, and the Equal Value Principle. Clinical Ethics, 1(1), 46-51. doi:10.1258/147775006776173408

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