Genetic Testing and Screening

Genetic Testing and Screening

Length: 1565 words (4.5 double-spaced pages)

Rating: Excellent

Open Document

Essay Preview

More ↓

Current research from the human genome project has identified numerous genes that are responsible for genetic disorders impacting society. This knowledge provides us with opportunities to test children and adults to predetermine genetic disorders/diseases and make educated decisions about options available. The U.S. Congress' Office of Technology Assessment (OTA) defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition." In contrast, genetic screening is defined as the systematic search of populations for persons with latent, early, or asymptomatic disease and is distinguished from genetic testing by its target population (McCarrick, 1997).

The impact that this information could have on society is overwhelming. Once genetically at-risk individuals are identified, they could enter special prevention programs that would provide treatments and information to improve their quality of life (Eng, 1997). A stumbling block in advancing genetic screening technology and implementation is that the majority of inherited diseases are caused by mutations scattered along the length of their respected genes. This has created a challenge for researchers to develop methods that look at a 'big picture' instead of focusing on only one area.

Technical Aspects

Applying this technology is the new challenge facing society. Tests have been developed for numerous disorders and their evaluation is critical to their effectiveness. An evaluation of any screening test depends on three factors, specifically the prior probability of having the condition, the sensitivity of the test, and the specificity of the test (Warmuth, et al. 1997).

Prenatal Testing

Genetic screening and testing have found increasing usage in prenatal care. The tests are performed on pregnant women to provide information on the health of the fetus. In the case that an actual fetal disability is revealed, the mother is confronted with an array of complex decisions, such as to continue the pregnancy and prepare for the birth, fetal surgery or organ donation, or to end the pregnancy with an abortion. There has also been discussion into testing parents who participate in an in vitro fertilization program and are at genetic risk. Testing of preimplanted embryos might ensure that only embryos free of genetic diseases or problems be placed into the uterus.

The majority of prenatal tests involve obtaining a sample of either amnionic fluid, chorion, fetal blood or mother's blood. Not all techniques are invasive though and one example is fetal ultrasound (sonography). This technique is composed of ultilizing sound waves by placement of a transducer, either on the woman's abdomen or inserted vaginally, to obtain a picture of the fetus on a television-like screen.

How to Cite this Page

MLA Citation:
"Genetic Testing and Screening." 24 Apr 2019

Need Writing Help?

Get feedback on grammar, clarity, concision and logic instantly.

Check your paper »

Genetic Testing and Screening Essay

- Genetics provide powerful knowledge that is changing humanity’s view of itself and its relation to rest of the universe. Genetic, cytogenetic and molecular genetic studies showed the relatedness of human being to other living things on the planet, including plants, fungi and bacterium (4). Little change in DNA contributes to human variations. So, genomic variations of human species are being studied through DNA analysis from populations, families, and individuals worldwide. Human Genome Project (HGP) was proposed in the 1980s and was formally initiated in 1990....   [tags: Genetic Screening Essays]

Free Essays
2391 words (6.8 pages)

Genetic Testing and Screening Essay

- Genetic Screening Imagine yourself as a 26-year-old pregnant female. You have just been genetically screened and you found out that you carry a gene for breast cancer. This gene almost always causes breast cancer in early adult hood. Your daughter-to-be has just inherited this gene. You have the following options; a) Abort the fetus and discontinue a disease that won't show signs for decades. b) Carry out the pregnancy and pray that your daughter is lucky and won't develop the breast cancer until maybe a cure for the disease has been found....   [tags: Genetic Screening Essays]

Research Papers
2121 words (6.1 pages)

Genetic Testing and Screening Essay

- Current research from the human genome project has identified numerous genes that are responsible for genetic disorders impacting society. This knowledge provides us with opportunities to test children and adults to predetermine genetic disorders/diseases and make educated decisions about options available. The U.S. Congress' Office of Technology Assessment (OTA) defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition." In contrast, genetic screening is defined as the systematic search of populations for persons with latent, early, or asymptomatic disease and is distinguis...   [tags: Genetic Screening Essays]

Free Essays
1565 words (4.5 pages)

Genetic Testing and Screening Essay

- Many things are changing at an extremely rapid rate in our society. The new advances in the areas of science and biotechnology are raising many ethical and moral dilemmas for everyone. No one will be left unaffected. Everyone will have to make a decision and take a stand on these issues. I will discuss advancements of genetic screening and testing. The first step to any ethical problem is to understand the topic. It is difficult to formulate accurate ideas without knowledge about the topic, so first I will provide a little background information on genetic screening....   [tags: Genetic Screening Essays]

Research Papers
1882 words (5.4 pages)

Genetic Testing and Screening Essay

- 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....   [tags: Genetic Screening Essays]

Research Papers
1432 words (4.1 pages)

Genetic Testing and Screening Essay

- Have you ever wondered what your children will look like. whether they will be boys or girls. or perhaps what your fate may be. Well, someday we may be able to answer all those questions and many more with genetic testing. Scientist are making new discoveries every day in the field of genetics that could possibly change our whole world as we know it. They are presently working on a project called the Human Genome Project, that will map and sequence the human genome. The basic goal of the ambitious research endeavor is to identify every gene found in the human body....   [tags: Genetic Screening Essays]

Free Essays
2723 words (7.8 pages)

Genetic Testing and Screening Essay

- Its no accident that off-spring resemble their parents. Deoxyribonucleic acid or DNA, located within each cell nucleus is a special chemical, that determines our genetic inheritance in a very orderly way. Under the microscope DNA looks like a mass of tangled threads which consist of tiny subunits called genes. Genes carry instructions, sometimes called the blueprint of life, for various characters like hair color, height, eye color. Our genes are received from both mother and father, half from each....   [tags: Genetic Screening Essays]

Research Papers
2689 words (7.7 pages)

Genetic Testing and Screening Essay

- On the last day of February 1953, a young British scientist named Francis Crick entered the Eagle Pub, his rumored hangout, and announced that he and American, James Watson had discovered the secret of life (Shreeves 49). The secret they found was the structure of DNA, which would finally allow the properties of this tremendously important molecule to be understood. Now more than 50 years later, the secret of life is not so secret anymore. Deoxyribonucleic acid (DNA) is the material that composes genes, which contain the hereditary material that is passed from generation to generation....   [tags: Genetic Screening Essays]

Research Papers
1977 words (5.6 pages)

Genetic Testing and Screening Essay

- There are numerous genetic disorders present in today's society that produce handicaps and threaten longevity. Genetic determinants are at the root of many cases of infertility, miscarriage, stillbirths, neonatal deaths, multiple malformations, retardation in growth and development, mental illness, and mental retardation. Estimates of the problem's magnitude have been made from data provided by the Department of Health, Education, and Welfare, which suggest that genetic factors are involved in one fifth of infant deaths, one fourth of the institutionalized mental retardates, almost one half of individuals with IQs less than fifty, and half of first trimester abortions (Finley 1982)....   [tags: Genetic Screening Essays]

Research Papers
3139 words (9 pages)

Essay about Genetic Testing and Screening

- After forthy-seven year old Mimi Joling found out her forty-eight year old sister was diagnosed with breast cancer, she decided to get genetically tested. Joling wanted to know more about her risks and the options available to help prevent herself from getting cancer. “I thought for sure that I would be negative. But then, when I found out I tested positive for the gene mutation, I was totally shocked. I started crying, and it was really emotional,” Joling remembers. After finding out her diagnosis she attended a two hour long genetic counseling session where she learned what the BRCA 1 mutation was, the possible risks, and recommendations in preventing cancer....   [tags: Genetic Screening Essays]

Free Essays
2346 words (6.7 pages)

Related Searches

Ultrasound provides a 'window to the womb' and can be used throughout pregnancy for many reasons, including pregnancy confirmation, fetal examination at different stages of development and position of the placenta and other internal organs (Blatt, 1996).

Amniocentesis is a surgical procedure used for prenatal genetic diagnosis. It involves the insertion of a needle into a pregnant woman's uterus in order to remove a sample of amniotic fluid. The fluid contains cells and substances shed by the fetus that can be analyzed in special labs to determine the genetic status of the fetus. Amniocentesis is generally performed between 16 and 18 weeks of pregnancy with a fetal loss rate estimated to be about 0.25-0.5 percent (Blatt, 1996).

Carrier Screening Tests

Carrier screening identifies individuals with a gene that may cause problems for their children or themselves. A test of blood or tissue samples can indicate changes in chromosomes, or changes in DNA that may have been inherited in asymptomatic individuals. These tests can be offered to individuals from specific ethnic groups who have a higher than normal chance of the particular condition appearing in the family. Examples include screening for sickle-cell anemia in Blacks and Cape Verdeans; Tay-Sachs in Jewish persons of Eastern European ancestry; and Thalassemia in people of Mediterranean and SE Asian descent (Blatt, 1996).

A major advancement into the idea of carrier testing occurred in 1994 when BRAC1, the first hereditary breast cancer susceptibility gene, was isolated. Mutations in this gene are associated with breast cancer at an earlier age than that seen in the general population and are thought to be responsible for approximately half of all inherited breast cancer (Warmuth, et al. 1997). The gene is quite large and over 100 distinct mutations have been detected throughout the coding sequence. Because of the large gene size and number of different mutations, genetic testing has been very difficult.

Public Policy Debates

Employee Testing

Few issues in employment have generated as much controversy as employee genetic testing. These tests identify the presence of genetic disorders in healthy workers that may place them at risk for developing certain work related injuries or diseases. Employers could use genetic testing information to ensure workers are not placed in environments that could cause them harm. Workers could also avoid certain work environments that would be hazardous to their health, saving families the physical, emotional, and financial costs of disabling diseases and premature death (Read My Genes, WWW). The major issue concerning screening is that the information gained may be used to discriminate against individuals based on the results of their test. A closer look at the supporting and opposing views will help our evaluation.


Supporters of genetic screening argue that it does not violate the rights of the employee, but rather allows them to make a more informed decision concerning their situation. Employers also have an interest in maintaining a healthy and productive workforce and could use genetic testing to accomplish this. Others hold the idea that all workers have the right to safe working conditions and employers should require testing. The difficulty in dealing with this issue is that both sides make very valid arguments from their perspective.


It appears that the arguments against genetic testing of employees are strongly based on the fact that genetic screening is relatively new and many questions remain to be answered. People in opposition base their differences on the idea that this new power of information will be used in such a way as to discriminate against workers. Genetic testing will brand certain individuals as 'defective' and make it difficult for them to find work.

They contend that while a person's skills, knowledge, or experience are relevant in deciding whether a person is qualified for a job, their genetic traits are not. Further arguments suggest that it would be unjust to receive differential treatment on the basis of genetics, which are fixed characteristics. Some ethnic groups are also more susceptible to certain disorders, which would then represent a form of discrimination by employers.

Opponents also contend that the psychological effects of genetic information can be very powerful. The burden of knowing that you have inherited a fatal disease, that has no cure, could be devastating to the individual and/or family. What would be the purpose of putting an individual through this mental torment expect for the fact that they could better prepare themselves for the conditions onset and eventual death.

Personal Opinion

I have mixed feelings from researching the topic of genetic screening. As with any new technology, exciting ideas and possibilities preoccupy our thinking. In our eagerness to grasp new genetic possibilities, we must not forget the unanswered questions that can leave us wondering how great this new knowledge really is. On the larger scale I would say that I am in favor of genetic testing...with a few qualifications.

The idea that we could identify genetic disorders in babies before they are even born is very exciting. Could there come a day when all diseases could be treated before the child is ever born into our hostile world? With this advancement comes the realization that we are playing God in determining who will be born healthy or not. It is unimaginable to me the emotions that a mother must endure once she discovers that her child will be born 'less than perfect'.

The other struggle that I face is with the power of genetic information in the workplace. I look forward to the opportunity to make work sites safer by ensuring that susceptible workers are identified and given the right to make informed decisions. Where does the line get drawn to determine when an individuals free choice is taken away and they are discriminated against because of genetic test results. Genetic information must be handled differently than other private information because it reveals knowledge not only about the individual but also about their family and ethnic group. This could lead into a trend of labeling a sex or ethnic group as inferior.

The future possibilities of genetic testing are very exciting. The challenge that I foresee is that we use this information to improve our livelihood and not as a means to set one group apart from another.


Blatt, Robin JR. 1996. An Overview of Genetic Screening and Diagnostic Tests in Health Care. Obtained from the WWW:

Eng, C., and J. Vijg. 1997. Genetic Testing: The Problems and the Promise. Nature Biotechnology 15:422-426.

McCarrick, Pat M. 1997. Genetic Testing and Genetic Screening. Obtained from the WWW:

Read My Genes: Genetic Screening in the Workplace. Obtained from the WWW:

Warmuth, Marc A., Linda Sutton, and Eric Winer. 1997. A Review of Hereditary Breast Cancer: From Screening to Risk Factor Modification. The American Journal of Medicine 102:407-415.
Return to