Genetic Testing: A Case Study

A much discussed gene in the field of genetic psychology is the MAOA gene which encodes the MAO-A enzyme. Monoamine oxidase A is an enzyme that can degrade amine neurotransmitters, such as dopamine, norepinephrine and serotonin. Several variants of the gene are seen in humans due to different combinations of the alleles that make it up. MAOA-L, a variant of the gene linked with aggressive and violent behaviour - predominantly amongst men - has earned itself the nickname ‘the warrior gene’ and is cited as a cause for antisocial behavioural tendencies. Following the large extent of research around the gene and its translation onto peoples’ behaviour, the presence of the gene has been argued in court as a grounding for defence in situations where

Genetic testing has become a highly controversial issue among both the general population and the scientific community. It is a process that exposes a person’s entire genome sequence, allowing it to be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and more being established, it seems logical to put this growing technology to use. Some agree that it is a person’s right to know and understand his or her genetic makeup. However, others argue that, despite the benefits of genetic testing, caution should be used to carefully inspect the risks associated with this new technology.

In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.

Monoamine oxidases (MAOs) are FAD depending enzymes and exists in two forms, namely MAO-A and MAO-B. MAOs are responsible for the regulation and metabolism of major monoamine neurotransmitters such as 5-hydroxytryptamine (5-HT), norepinephrine (NE), and dopamine (DA). MAO-A preferentially oxidizes serotonin. Human MAO-A inhibitors are antidepressants and antianxiety agents [1].

Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by mutation in the adenomatous polyposis coli (APC) suppressor gene on the long arm of chromosome 5 (Kennedy, Potter, Moir, & El-Youssef, 2014). Patients diagnosed with FAP had more than a hundred adenomatous polyps in their large intestine. FAP is dominantly inherited and is close to 100% penetrant (Hegde, Ferber, Mao, Samowitz, & Ganguly, 2014). Therefore, it is essential to have knowledge of the disease in advance in order to have sufficient medical preparation and family planning before the onset of the disease.

A family health nurse is responsible to be a reliable resource when helping clients understand illnesses that are passed down within their family and when conducting genetic counseling (Kaakinen, Coehlo, Steele, Tabacco, & Hanson, 2015). In this discussion, I will consider a scenario where I am a family health nurse meeting with a married couple who are both carriers for the genetic disorder of cystic fibrosis. I will review what a genetic counseling session provides, how I took a detailed family history to assess and analyze the potential genetic problems they would have with their offspring, if I would recommend genetic testing for the couple before they have children and if I could facilitate the testing, and discuss some advantages and

Consumers have the right to learn and obtain information about their personal genome and its potential implications in future health outcomes. However, the Food and Drug Administration (FDA) actions was protecting the rights of the consumer when they blocked 23andMe’s consumer advertising campaign in 2013. Direct-to-consumer genetic testing companies are poorly regulated. There is no current industry standard that consumers can point to when it comes to DTC genetic testing. Therefore, DTC services need more industry standardization and scrutiny on their methods and techniques before the general public can fully support them as valid entities for genetic information. This incident isn’t the first time that the federal government intervened in

It is a controversial topic which yields disagreement not just in terms of the science, but also in terms of the social, legal and therapeutic implications. Given the evidence, it would seem that possessing any of the variants for MAOA-L in tandem with any exposure to childhood trauma and abuse as forensic psychiatrist William Bernet states “increases one’s chances of being convicted of a violent offense by more than 400 percent” . My belief is that in the case of violent crime—genes, childhood traumas, and low socioeconomic status are a dangerous cocktail. While race does seem to play a role in the incidence of criminality, I would reserve judgment to base it solely on genetics despite the studies noted, solely because there are many other factors to consider. If race was an acceptable alibi for violent crime, it would propose mixed strategies in terms of corrections i.e. if the defendant is of African ancestry, how his particular genotype relates to his personal behavior. To date there exist several treatments for MAOA-L, including Pregnenolone which converts to progesterone—which acts to increase MAO (figure 2) , as well as estrogen, which reduces aggression . In my opinion, just as an individual does not choose to be abused as a child, he doesn’t choose to have a particular gene in his genetic makeup, and in

One afternoon in a quiet suburban home, Martin, an average American man in his thirties, sits on his couch tired from a long day of work reading the newspaper. Incidentally, Martin stumbles upon an article concerning modern medicine. He reads the article to discover there are genes which link to aggressive behavior. Having lived a timid life, Martin begins to imagine his future family and decides he wants his kids to be more aggressive in their mannerisms. As such, Martin begins to imagine the idea of developing a technology which can alter the human genome for behavioral purposes.

Great post Anthony! I liked your take on the strengths and weaknesses of DTC genetic testing. I also agree with you in terms of having an infrastructure in various health systems to handle genetic counseling to patients and consumers. Genetic counseling should be about patient self-efficacy and empowerment. This debate between government regulation and medical advancement is not new. Every approved drug on the market today is a product of this balance between the government and industry. But there is something about DNA and genetic information that many of us are still trying to understand in terms of its social, ethical, and personal impact. While there are laws aimed at protecting genetic information, like GINA, there is a gray area that

Genetic screening is the testing of variations in gene sequences in protein or DNA. Protein screening is easier, but DNA screening is more powerful. It is a 'physical screening for a protein or genetic abnormality that may allow detection of a disorder before there are physical signs of it, or even before a gene is expressed if it acts later in life.' (web). This is a technique that is used on nonhuman species such as plants and some animals and is not questioned. The real question is if we should use it on humans.

While the consumers are optimizing for their health, another stakeholder that plays a critical role are the genetic testing companies. To investigate the growing market for lab-developed genetic tests, it is important to examine how companies are developing, marketing, and selling tests to understand the reasons behind this immense growth. Usually the mission of the companies that develop LDTs says that they aim to “empower people so they live healthier, longer” in the case of Veritas Genetics, are “dedicated to saving lives and improving the quality of life of patients worldwide” in the case of Myriad Genetics, or another mission statement heralding a patients-first mentality. Underneath this patients-first ideal, there is inherently a tension

In relation to the positives and negatives of gene testing, there are strong arguments for both views. An argument presented for gene testing is the idea of risk evaluation, knowledge and even possible cures or treatment. This however is presented with the counter argument, as there are several ethical issues with genetic testing.

Prenatal genetic testing has come a long way from the 1930s, it has gone from only having one test capable of detecting only a couple genetic disorders/disease, to now being able to detect just about any genetic disorder/disease, and it is still progressing into the future. In the 20th century, there for only four to five techniques used, however most of these techniques were not completely accurate, but into the 21st century we saw a few new techniques added along with the older ones becoming more accurate in order to plan for a termination or for the future of the fetus. Scientists have been adding to these techniques every day, finding new markers for small changes in the genome and connecting those to genetic disorders that could develop

While Suomi related his theory to animals and human, his concern was making cross-species analysis and the fact it may not lead to the most accurate information. However, the correlation of genetic and environmental factors between monkeys AND humans are very similar, when taken into consideration that both contain a “short” MAOA that only turns bad when denied by good mothering. This discovery was made possible when Suomi recognized that one Terrie Moffitt findings in humans mirrored his results with the rhesus’s monkey genes and environment. Terries Moffitt is an American clinical psychologist and is well known for her research on gene- environment interaction in mental disorders. Moffitt’s study of the “Role of Genotype in the Cycle of Violence in Maltreated Children” was published in Science Magazine and accepted by the American Association for the Advancement of Science. Moffitt and her colleagues followed 1037 children for 26 years. There were two distinct findings during her research that paralleled Suomi’s. One being children were much more likely to grow up to be aggressive and antisocial if they had inherited a “short” version of the MAOA gene. However, children with the combination of poor parenting and the short gene lead to bad behavior that was off the charts. The evidence of linking genetic and environmental factors has been connected with animals AND