Individual Impacts Genetic Diagnosis
Individual Impacts of Genetic Diagnosis
The number of inherited disorders and risk factors that can be detected through genetic testing is increasing rapidly, and genetic testing may soon become a common component of routine medical care. Is behavioural medicine ready? For the first time, a sophisticated understanding of gene-environment interactions as manifested in the interactions among an individual's genetic predispositions, behaviour, and environment seems within reach. Rather than diminishing the role of behavioural science, advances in molecular medicine highlight the centrality of behaviour both in disease etiology and in the translation of science into practice.
This paper is systematic review of the literature on the individual impacts of genetic diagnosis in behavioural and psychological terms. It draws from papers on these topics and cites their studies extensively. The upshot is that carrier and predictive testing may have effects on anxiety and depression, but that there is genetic stigmatization. Prenatal testing may lead to increased premature termination of pregnancies.
The subset of psychological issues and processes that are most salient within the clinical genetics context has evolved alongside advances in biotechnology. Prenatal testing and carrier testing were among the first services offered, affording an opportunity for individuals to learn whether they had transmitted an altered gene to their offspring. As these tests provided information about the risk to the fetus, the focus of counseling tended to be on reproductive decision-making. More recently, genetic testing is being applied to detect personal susceptibility to disease, shifting the focus of counseling to personal risk reduction. The hope is that awareness of genetic risk will enhance informed medical decision making by physicians and patients alike. However, there may also be psycho- logical and social risks of genetic testing that should be considered, regardless of the potential medical benefits provided by testing. It is in this consideration of the entire breadth of the potential costs and benefits that psychologists can play a critical role. Both researchers and clinicians can assist patients, families, physicians, and policymakers as they grapple with the complex task of integrating genetic information into their professional practice and everyday lives (Lerman et al., 2002).
Psychological Effects of Carrier Testing
In one of the earliest reports of the impact of carrier testing, investigators studied the implementation of a sickle-cell disease carrier screening program in a community where 23% of the population were gene carriers and about 1% of infants were born with sickle-cell disease. The community's custom of arranging marriages provided the opportunity to offer counseling aimed at avoiding matings between carriers. A 7-year follow-up descriptive evaluation indicated that notification of carrier status resulted in anxiety, embarrassment, and an inferior social status, particularly among women. In fact, 20% of parents reported that they requested that their noncarrier children not marry a carrier, even though such an arrangement would not result in any offspring with the disease. In a related study, carriers and noncarriers did not report differences in self-image. However, noncarriers were found to have more negative attitudes about sickle-cell carrier status than carriers, suggesting the potential for social stigmatization.
A more recent qualitative study examined adults' experiences with carrier testing for four disorders: cystic fibrosis, Tay-Sachs disease, Duchenne muscular dystrophy, and Fragile X syndrome. Results suggested that noncarriers experienced relief and a general sense of well-being toward their future childbearing. However, carriers reported feelings of hopelessness regarding the health of their offspring.
As is evident from this brief review, few studies of carrier testing have used validated tools for assessing psychological outcomes. However, in a prospective study of general-population cystic fibrosis screening in Great Britain, investigators compared carriers and noncarriers in terms of anxiety levels (as measured by the State -- Trait Anxiety Inventory [STAI]). Carriers reported small but statistically significant increases in anxiety immediately following testing. Although most carriers did not report sustained anxiety, those who still intended to have children reported some anxiety at 6-month follow-up. One study also reported on the psychological status of cystic fibrosis mutation carriers. A modified version of the STAI administered after genetic counseling did not reveal differences in anxiety between carriers and a matched control sample of test decliners (Lerman, et al., 2002).
Psychological Effects of Predictive Testing
Huntington's disease. The first longitudinal study of HD testing was initiated in British Columbia in 1986. The results indicated that immediately after learning test results (7 -- 10 days), the in- creased risk group reported decreased scores on the General Well- Being Scale,...
Genetic screening is one of the most controversial topics in the scientific arena today. The advent of the Human Genome Project, which maps the complete human genetic code, has brought this issue to the forefront. This paper will discuss the basic science that underlies genetic screening, applications of genetic screening, and investigate some of the common misconceptions and ethical questions about its use. Genetic screening itself is simply "the systematic search
Genetic Disease Diagnosis, Screening, Treatment, And Advocacy This case study involves a couple who are expecting a child. Testing has been conducted identifying the unborn child having the condition of Tay-Sachs disease. The nurse in this scenario will identify interdisciplinary team members and create a teaching plan to educate the couple about this disease. This work in writing will discuss three ethical implications regarding the availability of personal genetic information and
"Accurate descriptions of sex chromosome differences are critical, the decisions potentially regrettable, and the long-term outcomes devastating if a termination is based on the misinformation," that the patient later discovers to be misinformation for instance, "that any of these conditions is comparable to Down's Syndrome" (Biesecker r 2001:2) Conversely, it is also important not to minimize the odds of a potentially fatal genetic condition like Tay Sachs disease. Providers are
Genetic Testing Prenatal diagnosis serves a variety of purposes and I believe in its fundamental purpose it is good. In some cases, prenatal genetic testing can lead to timely medical intervention to mitigate or eliminate disease such as with congenital adrenal hyperplasia or a-thalassemia. In some cases, prenatal diagnosis reveals a lethal condition, such as anencephaly, trisomy 13, or trisomy 18. The choice to do genetic testing in the beginning is
However, an individual should be able to investigate their own roots, even if the science is questionable. When such information is released into the public domain without the individual's permission though, a lot of harm can be done. Making invasions into a person's genetic history illegal is probably the best remedy. Genetic testing has become an important tool for medical diagnosis and treatments (Norrgard) and therefore should be available to
Genetic Engineering is a tool in the hands of man to break the species barriers to create a more productive and controllable world. This is a delicately balanced issue and unless we exercise enough restraint and responsibility we may end up endangering ourselves and all other forms of life. Genetic Engineering is the science of gene manipulation. Genetic information is specific to each and every organism in the world. Genetic Engineering
Our semester plans gives you unlimited, unrestricted access to our entire library of resources —writing tools, guides, example essays, tutorials, class notes, and more.
Get Started Now