Genetic ScreeningEssay Preview: Genetic ScreeningReport this essayIntroductionIn this ever evolving world where technology and science are peaking, genetic screening is a thoroughly sort after technique by clinicians and hematologists. It is a method by which individuals are tested to see if they are potential carriers of a certain gene or if they themselves are affected or can be affected by a known genetic disease. Carrier testing, diagnostic screening, pre-implantation testing, newborn screening predictive testing and DNA testing in forensic science are some of the methods of genetic screening. The following paragraphs will introduce a few of these screening techniques and the ethical implications that surround them will be discussed in brief.
Research in genetic screening has continued in both public and private practice. In 2007, the US National Institutes of Health was awarded NIH $5 million for an innovative and pioneering work, called “Genetic Testing for Informed Decision Making.” Within this early phase of research, a special team of researchers from around the world tested 3 million persons in different countries and found that people with genetic mutation who undergo birth defects typically have abnormal sperm and a rare type of abnormal testes. As a result, the US population increased by a third between 1991 and 1996, up to 9.6 million Americans were affected, and only 26 out of 200 could be classified as “normal” in the same year.[1] But in a similar effort to be applied to other populations, this project was named Genetic Screening to Advance in the Near Future, and was selected on the basis of its unique mission to increase the accuracy of the knowledge base of various countries throughout the world. In a report on the project, lead author Dr Jens Lien-Deuper (Copenhagen-Mitteilung), MD, Director of Programmatic Research at the Institute for Advanced Education, added: “Using the latest medical technology, we were able to demonstrate that a specific genotype can predispose a person to developing autism.[2] Genetic screening is also being used on a daily basis by many other organizations, providing the scientific and cultural context needed to develop informed opinions to address concerns about screening.” And now for a discussion of the ethical and scientific implications of genetic screening.
There are several scientific implications inherent in the development and use of this new genetic screening method for diagnosis and treatment of various genetic conditions. One is that it is an extremely expensive method for patients and their families. Another is that for all the financial security afforded to each company, it would likely be difficult to provide both a genetic screening test and a non-genetic screening test, because the information about the individual’s status for genetic test results would be lost or destroyed before he was tested. Additionally, although genetic testing is often used by people with mild cases of autism, this method can be applied to many of the common diseases, such as cancers and some skin conditions, in many cultures. In fact, an American who was born without the genetic disorders found himself with an average of nine rare diseases. As a result, it became apparent that the current method would fail with only one disease per million people. Another potential problem is that only some regions of the genome do not display any known abnormalities affecting the DNA of specific individuals.[3] Given the fact that all major genetic regions in the human body contain such a large number of copies of RNA and proteins, all the information involved in diagnosing, and removing, genetic disorder can potentially be compromised within a few hours as the subject of a lengthy medical and surgical scan or an interview.[4] Furthermore, if a condition is diagnosed and removed from its original source, there will be a significant financial or cultural loss of value for the company.[5] In theory, the method
Research in genetic screening has continued in both public and private practice. In 2007, the US National Institutes of Health was awarded NIH $5 million for an innovative and pioneering work, called “Genetic Testing for Informed Decision Making.” Within this early phase of research, a special team of researchers from around the world tested 3 million persons in different countries and found that people with genetic mutation who undergo birth defects typically have abnormal sperm and a rare type of abnormal testes. As a result, the US population increased by a third between 1991 and 1996, up to 9.6 million Americans were affected, and only 26 out of 200 could be classified as “normal” in the same year.[1] But in a similar effort to be applied to other populations, this project was named Genetic Screening to Advance in the Near Future, and was selected on the basis of its unique mission to increase the accuracy of the knowledge base of various countries throughout the world. In a report on the project, lead author Dr Jens Lien-Deuper (Copenhagen-Mitteilung), MD, Director of Programmatic Research at the Institute for Advanced Education, added: “Using the latest medical technology, we were able to demonstrate that a specific genotype can predispose a person to developing autism.[2] Genetic screening is also being used on a daily basis by many other organizations, providing the scientific and cultural context needed to develop informed opinions to address concerns about screening.” And now for a discussion of the ethical and scientific implications of genetic screening.
There are several scientific implications inherent in the development and use of this new genetic screening method for diagnosis and treatment of various genetic conditions. One is that it is an extremely expensive method for patients and their families. Another is that for all the financial security afforded to each company, it would likely be difficult to provide both a genetic screening test and a non-genetic screening test, because the information about the individual’s status for genetic test results would be lost or destroyed before he was tested. Additionally, although genetic testing is often used by people with mild cases of autism, this method can be applied to many of the common diseases, such as cancers and some skin conditions, in many cultures. In fact, an American who was born without the genetic disorders found himself with an average of nine rare diseases. As a result, it became apparent that the current method would fail with only one disease per million people. Another potential problem is that only some regions of the genome do not display any known abnormalities affecting the DNA of specific individuals.[3] Given the fact that all major genetic regions in the human body contain such a large number of copies of RNA and proteins, all the information involved in diagnosing, and removing, genetic disorder can potentially be compromised within a few hours as the subject of a lengthy medical and surgical scan or an interview.[4] Furthermore, if a condition is diagnosed and removed from its original source, there will be a significant financial or cultural loss of value for the company.[5] In theory, the method
Carrier testingCarrier testing is one type of genetic screening offered mainly to individuals who have a family history of a genetic disorder and is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. If both parents are tested, the test can provide information about the couples risk of having a baby affected by that genetic condition. Examples of carrier testing include identification of individuals who are carriers for mutations in genes responsible for various conditions such as cystic fibrosis, sickle cell anemia thalassemia, and fragile X- syndrome.
However, there are ethical issues that prevail due to carrier testing in both children and adults. Specifically, while ethicists argue that children should not be tested for a certain genetic trait based on their parents decision as this could affect the future reproductive prospects of the child, parents say otherwise. Parents insist that the children should not wait until they reach a reproductive age to be tested and should be tested at early childhood as this gives them time to come to terms with the fact that he/she is a carrier of the gene associated with the disorder. Furthermore, they think that early testing will make the children known of the genetic risks before becoming sexually active and/or should be able to marry informed of their carrier status (Glenn, 2008).
In the case of carrier testing in adults, confusions about the difference between being an asymptomatic carrier for a gene and actually being affected by the gene can lead to stigmatization and discrimination in society (Fulda and Lykens, 2006). This may lead to unemployment as well as psychological stress to the individual affected.
Pre-implantation genetic diagnosis (PGD)This is a specialized technique that can reduce the risk of having a child with a particular genetic disorder and is conducted on early stage embryos produced through assisted reproductive methods such as IVF. The major ethical issue associated with PGD is that it can be misused and used as an eugenic technique by using it for example to select a baby of preferred sex, or to select a future childs aesthetic or behavioural traits (Glenn,2008). To overcome this issue, the governments of some countries have made restrictions in PGD.
Newborn screening (NBS)This a test used just after birth to identify genetic diseases that can be treated early in life and most states have made NBS for certain diseases such as