Genetic Testing and Screening
explanatory Essay
2689 words
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. Genes instruct our bodies to make proteins - which determines the shape and function of each cell. Each gene controls the production of a particular protein. Genes produce millions of different proteins through different arrangements of just four simple molecules the nucleotides - adenine (A), cytosine (C), thymine (T), and guanine (G). These A,C,T and G's are like letters of the alphabet - their order "spells" out the language of life.
The Human Genome Project (HGP) was proposed in the 1980s and was formally initiated in 1990. Its major aims are to map and determine the chemical sequences of the three billion nucleotide base pairs that comprise the human genome. Completion of the HGP in the projected 15 years will provide a source book for biology and medicine. The Human Genome Diversity Project (HGDP) complements the HGP by examining the genomic variation of the human species, through analysis of DNA from populations, families and individuals worldwide.
There are many different techniques involved in gene screening. With the start of the Human Genome Mapping Project some of these techniques have been altered to speed up the screening process. Examples of these techniques include PCR (polymerize chain reaction), RFLP's (restricti...
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...WWW: http://www.torontobiotech.org/factsheets/series1_02.htm
2. Encyclopaedia Britannica. Obtained from WWW : http://search.eb.com/bol/search?Dbase=Ar
3. Genetic Screening and Counseling. Obtained from WWW : http://www.gaucher.org.uk/genetic.htm
4. Genetic Screening and Ethics an Overview Obtained from WWW : http://www.woodrow.org/teachers/bi/1992/gen_screen1.html
5. Genetic Testing and Genetic Screening. Obtained from WWW : http://www.georgetown.edu/research/nrcbl/scopenotes/sn22.htm
6. The Application of Human Genetic Research. Obtained from WWW : http://www.bioportfolio.com/efb3.htm#hgp
7. Marshall, Eliot. 1999. Beryllium Screening Raises Ethical Issues. Science. 285(5425): pp178-179.
8. Blatt, Robin JR."An Overview of genetic screening and diagnostic Tests in Health Care". Obtained from the WWW: http://www.geneletter.org/0996/screening.htm
In this essay, the author
- Explains that dna determines our genetic inheritance in a very orderly way. genes instruct our bodies to make proteins.
- Explains that the human genome project (hgp) was proposed in the 1980s and was formally initiated in 1990. it aims to map and determine the chemical sequences of the three billion nucleotide base pairs that comprise the human genome.
- Explains how pcr, rflp, and cloning have been altered to speed up gene screening. rapd, gawts and other techniques are being utilized in the mapping and sequencing of the human genome.
- Explains that genetic screening is a process to analyze blood or skin for the systematic search for persons with genotypes in defined populations and serves as an important tool of modern preventive medicine.
- Explains that markers have already been found for various diseases such as huntington's disease, cystic fibrosis, duchenne muscular dystrophy, hemophilia and thalassaemia, and some rare cancers.
- Explains that genetic screening is currently available for the following conditions: sex, abnormal chromosome number, early onset conditions, susceptibility to hypercholesterol, alcoholism, carriers of recessive genes.
- Explains that screening is carried out to discover undiagnosed sufferers or those with genetic markers for the disease.
- Explains that types 2 and 3 are so rare that discovery usually only takes place once a child has already been born with the disorder. in subsequent pregnancies, the fetus can be tested early.
- Explains that in type 1, if both parents have disease, the child must inherit the disease or the genetic markers for it.
- Explains that if both parents are carriers, there is a one in four chance in each pregnancy that the child will have the disease or the genetic markers for it.
- Explains that screening of undiagnosed people who have the disease, or have genetic markers for it, and those who are carriers, is highly unlikely due to the rarity of the condition.
- Explains the two types of genetic screening: presymptomatic screening and carrier screening, which are carried out in healthy individuals where genes are harmful to their future offspring.
- Explains that prenatal screening is done when a fetus is at risk for various identifiable genetic diseases or traits. newborn screening started in 1960 with the ability to test newborns for phenylketonuria.
- Explains carrier screening is related to the analysis of individuals with a gene or chromosome abnormality that may cause problems either for offspring or the person screened.
- Explains that forensic screening seeks to discover a genetic linkage between suspects and evidence discovered in criminal investigations. since dna is unique, many people are reluctant to see such information become part of any national database.
- Explains that susceptibility screening helps identify workers who may be susceptible to toxic substances in their workplace and may cause future disabilities.
- Explains that there are different times throughout the life span of a human in which genetic tests, both screening and diagnostic can be preformed.
- Explains that msafp is a blood-screening test performed at the 16-18 week gestation date and tests for spina bifida.
- Describes the recommendations of the uk nuffield council on bioethics regarding genetic screening and the social response to these developments.
- Explains that screening can be used for medical intervention and research, reproductive information, enumeration, monitoring, surveillance, and registries of genetic disease and disability.
- Explains the committee of ministers of the council of europe's recommendations to allay any future unease.
- Explains that the danish council of ethics views genetic information as different from other private information since it reveals knowledge not only about an individual, but also the individual's relatives.
- Concludes that privacy is an explicit constitutional right that includes respect for genetic privacy and is protected by legislation. employers should be prohibited from collecting genetic information.
- States that the president's commission recommends that information stored in computers be coded and compulsory genetic screening not be justified to create a health gene pool or to reduce health.
- Opines that genetic screening is an ethical solution to human life. pre-natal diagnosis for a genetic condition is available in the case of diseases like down's syndrome.
- Opines that there are many issues to be solved before genetic screening is made universal.
- Cites the toronto biotechnology initiative, encyclopaedia britannica, genetic screening and counseling, gaucher, and woodrow.
- Explains the importance of genetic testing and genetic screening in health care, and the application of human genetic research.
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- Genetic Screeningexplanatory essayGenetic Screening Genetic screening techniques are coming of age and the controversy that surrounds them is growing by the minute. The definition of genetic screenings is as follows: a systematic search for persons with a specific genotype. These tests that look into the essence of humanity, will allow scientist and physicians the opportunity and ability to alter the human genotype for better or worse. Genetic advancements will bring controversy at every milestone. Genetic Screening usually takes place when an individu al or group shows risk for a disease or trait.
In this essay, the author
- Explains that genetic screening techniques are coming of age and the controversy that surrounds them is growing by the minute.
- Opines that ethics plays a major role in understanding the controversy that surrou nds genetic testing. they will discuss ethics, techniques, types of test available, major issues, pros and cons associated with genetic screening.
- Explains that dna is the molecule of heredity and provides life's bl ueprints for building, replicating, and surviving. the human genome project is a process of mapping the human chromosome.
- Explains that ethics in genetic screening plays a major role in how the public opinion is formed.
- Explains that a genetic test will not indicate the severity or even if the disease will manifest itself, but it shows that an individual's genetic sequence is suspect for causing it. anxiety of living with the likelihood of one or more specific, chronic, debilitating disease creates psychological burdens.
- Explains that genetic specimens are easy to obtain with a prick of the finger, and genetic analysis tests can be run with this small amount of blood.
- Explains that insurance is based on the complementary principles of solidarity and equity in the face of uncertain risks. the goal of business is to make money.
- Explains that social stigmatism may be placed on individuals and families because of the results of genetic tests. employers could deny jobs to individuals that are at risk for certain diseases.
- Explains the benefits of genetic screening, such as prenatal testing, abortion, and changing habits.
- Explains that genetic tests are expensive in the united states compared to britain. the british system takes into account the money saved by proper treatment and genetic counseling.
- Explains that neonatal genetic tests are used to determine inborn errors of metabolism, which can cause complications later in life. carrier screening is given to individuals that are high risk, such as jewish people of east european descent.
- Explains that maternal serum alpha-fetoprotein (msafp) is a common blood-screening test that is performed early in pregnancy.
- Explains that inborn errors of metabolism are tests run on all infants to determine rare disabilities or chemical disorders like pku, sickle cell disease, and thalassemia. hiv, heart disease and cystic fibrosis are also done.
- Explains that sickle cell anemia tests are run on blacks to determine the presence of sickle cells. tay-sachs is tested for in the descendants of jewish people from eastern europe.
- Opines that genetic screening and genetic test are the way of the future and can benefit all with proper regulation.
- Cites allen, b., "predictive genetic testing: ethical, legal and social implications". usa today.
- Describes the reasons why people want to know if the news is bad. time v148:29 reference 5.
- States blatt, r., an overview of genetic screening and diagnostic test in health care.
2630 wordsRead More - The Genetic Screening Debatecomparative essayThe Genetic Screening Debate Within the past thirty years, researchers have found strong evidence linking genes and disease. The development of predictive genetic tests followed shortly after the isolation of certain candidate genes. Although predictive genetic screening is only available for a handful of diseases, its effects and ramifications have become hotly debated issues in a wide range of areas, from government to religion. The debate began in the 1993 when researchers isolated the BRCA1 gene, which is associated with increased risk of developing breast and ovarian cancer.
In this essay, the author
- Explains that proponents believe that people from high-risk families can gain many benefits from knowing whether or not they carry a genetic mutation.
- Describes the biology of genetic testing, and then discusses the pros and cons of it.
- Concludes that genetic tests do not provide definitive results and therefore should not be used.
- Explains that genetic testing for cancer is here, whether we need it or not.
1835 wordsRead More - The Ethical Implications of Genetic Screening and Testing: Arguments For and Againstanalytical essayGiven advancements in technology and medicine, genetic screening and testing is becoming more commonplace in our society. The National Human Genome Research Institute (NHGRI) defines genetic screening as “a search in a population for persons possessing certain genotypes that (1) are already associated with disease or predispose to disease, (2) may lead to disease in their descendants, or (3) produce other variations not known to be associated with disease” (NHGRI, 2005). The term genetic testing is similar, but differs in that it only targets those individuals believed to be at high risk for a genetic disease. For example, testing an asymptomatic person in a family with relatives affected with the condition would constitute genetic testing (NHGRI, 2005). For the purpose of this paper, the two terms will be used interchangeably. Given the growing number of genetic tests available for identifying genetic diseases, it is important to examine the ethical implications of genetic screening as well as the arguments for and against this practice.
In this essay, the author
- Argues that direct-to-consumer (dtc) companies have a moral and ethical responsibility to educate parents about the risks of testing their children and discourage the testing of minors for rare genetic traits.
- Argues that genetic testing has the potential to lower morbidity and mortality through early disease detection and targeted surveillance and prevention strategies.
- Analyzes the ethical implications of genetic screening and the arguments for and against it.
- Summarizes the findings of heshka, palleschi, howley, wilson & wells' systematic review on the psychological and behavioral impacts of genetic testing.
- Analyzes julian savulescu's chapter entitled "genetic interventions and the ethics of enhancement of human beings".
- Explains the centre for genetics education's ethical and policy issues in genetic testing and screening of children.
1911 wordsRead More - Genetic Testing or Genetic Screeningopinionated essayGenetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to what degree we are allowed to tamper with the human genome. To better understand the potential impact of genetic screening on our society, we must examine the potential benefits in comparison to the possible negative impact it may cause. With this knowledge in hand, we can examine what the future holds for this field of study and the best possible direction to take.
In this essay, the author
- Argues that genetic screening has many revolutionary applications, but personalized medicine is the most significant.
- Opines that genetic screening could have serious unintended consequences for the public, allowing insurers and employers to use that information to deny coverage and benefits.
- Opines that progress is inevitable and research into the human genome will most likely continue.
- Opines that legalizing over-the-counter genetic testing would provide solutions to some of the problems facing the field of study.
- Opines that genetic screening should be allowed to continue but only under heavy scrutiny from regulating bodies.
- Explains that genetic testing, also known as screening, is a rapidly advancing scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives.
- Cites coughlin, s.s., and weeks, c. (2002). future challenges for research on diagnostic tests: genetic tests and disease prevention.
1504 wordsRead More - Newborn Genetic Screeningexplanatory essayThe purpose of newborn genetic screening is to screen newborns for potential health concerns. Newborn genetic screening started in 1965 with the testing of one disorder, phenylketonuria (WDHS). Since then, newborn genetic screening has evolved and over 4 million newborns are screened in the U.S. every year (CCHC Report). Currently, in the state of Wisconsin, there are 47 different disorders that are tested for (WDHS).
In this essay, the author
- Explains that newborn genetic screening started in 1965 with the testing of one disorder, phenylketonuria. since then, over 4 million newborns are screened in the u.s. every year.
- Explains that wisconsin law requires newborn screening before leaving the hospital. the screening costs $69.50 but is covered by most health insurances.
- Explains that sickle cell anemia is present in one out of every two african americans. it is passed down through families and makes red blood cells form in a crescent shape.
- Opines that newborn genetic screening positively affects the community, but there are also negative benefits that raise questions about the ethics involved in genetic testing.
- Explains that the psychological and financial strain on newborns and their families are two of the negative benefits of newborn genetic screening. the psychological burden put on a family after receiving devastating news about their newborn could cause stress, anxiety, guilt, and impaired self esteem.
- Explains the negative benefit of newborn genetic screening, which is the reliability of the process.
- Explains that while the negative benefits of newborn genetic screening may seem severe, there are ways to combat them. they believe it is ethical to require that infants be tested for genetic disorders.
- Cites the american academy of pediatrics committee on bioethics and genetic testing.
- Explains the wisconsin department of health services' "children and youth with special health care needs program newborn screening" and "sickle cell anemia".
795 wordsRead More - Lifelong Health Benefits of Mandatory Genetic Screeningsanalytical essaySince their development and introduction to the field of medicine more than a century ago, genetic screenings have become incorporated in many fields of healthcare, including reproductive health and cancer prevention. Genetic screening is a method of identifying genetic disorders through the study of an individual’s DNA. They can be used to determine predisposition for various disorders such as Alzheimer’s, breast cancer, and sickle cell anemia. Genetic screenings inform individuals about their state of health and can help them make efficient choices in regard to disease treatments and prevention; however they have not gone without controversy. Many feel that such screenings can cause stigma and discrimination against individuals who have unfavorable genetic characteristics. Despite such social setbacks, mandatory screenings with anonymous data released to the public can help benefit both individuals and public health.
In this essay, the author
- Explains that genetic screenings have become incorporated in many fields of healthcare, including reproductive health and cancer prevention.
- Explains that genetic screenings can lead to immediate treatment of disorders such as hypothyroidism and phenylketonuria, and tay-sachs disease.
- Explains that utilizing genetic screening, individuals and doctors can target health disorders more quickly and efficiently.
- Explains that genetic screening can help determine health issues faster in regions where certain health disorders are more prevalent among ethnic groups, such as in the ashkenazi jewish community.
- Opines that genetic screenings can lead to social stigma against those with genetic disorders despite their benefits for individual and public health.
- Argues that mandatory genetic screenings with public results may lead to a "genetic holocaust", similar to when hitler attempted to lead human evolution to favor fair-pigmented people.
- Explains that even if stigma against ethnic groups does not arise from genetic screening, individual patients may experience high levels of stress due to the results of the screenings.
- Argues that making genetic screenings mandatory will lead to a more informed public when it comes to personal health and family planning, as well as better medical understanding of various genetic disorders.
- Cites atkin, k., eskenazi, and etkin's article, "ethnicity and the politics of the new genetics: principles and engagement."
- Cites hodge, markel, natowicz, alper, and sheth.
- Explains that genetic testing and pharmacogenomics: issues for determining the impact to healthcare delivery and costs, in the american journal of managed care, 2004.
1481 wordsRead More - Identifying DNA Abnormalities Through Genetic Testingexplanatory essayGenetic testing involves examining an individual’s DNA and identifying abnormalities within the chemical makeup of specific structures. It, essentially, maps the person’s genome and can be interpreted to predict future issues. By analyzing the chromosome, genes, and even certain proteins, physicians and researchers can find changes that lead to inheritable disorders. These changes can lead to possible diagnosis or cure for the disorder in question. In most cases, genetic testing is used to determine the probability that an individual will develop a certain disorder. It is not used to specifically diagnose a disorder, as there are no techniques that are 100% accurate. Genetic testing techniques do give good evidence to confirm a physician’s findings, but it is not the first act a physician takes to diagnose a disorder. It can narrow a search or rule out a specific disorder very confidently, but making a diagnosis based solely on genetic testing is not an action that a qualified medical professional would consider.
In this essay, the author
- Explains that the movie talked about genotyping and actionable genes. genotyping reveals the alleles of an individual that have been inherited.
- Opines that prenatal screening and preimplantation genetic diagnosis are more beneficial than harmful and can help parents plan for possible eventualities.
- Explains that sickle cell anemia is a well-researched disorder of the red blood cells.
- Explains that genetic testing can determine whether a couple is carriers of disease, and if they will possibly pass it on to the next generation.
- Describes the types of genetic tests available at the national library of medicine.
- Describes the signs and symptoms of sickle cell anemia from the heart, lung, and blood institute.
- Explains omim entry # 603903 - sickle cell anemia.
- Explains the risks and limitations of genetic testing from the national library of medicine's genetics home reference.
- Explains that genetic testing involves examining an individual's dna and identifying abnormalities within the chemical makeup of specific structures.
- Explains the signs and symptoms of sickle cell anemia, including fatigue, shortness of breath, dizziness, headaches, and jaundice. the mutant beta globin (hbs) mutation is associated with many other genetic precursors.
1281 wordsRead More - The Controversial Topic of Genetic Testingexplanatory essayGenetic 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 this essay, the author
- Describes the guidelines for diagnosis of cystic fibrosis in newborns through older adults.
- Describes holt productions, nova, and pbs home video's cracking your genetic code.
- Explains the national library of medicine's genetics home reference. what is genetic testing?
- Explains that genetic testing has become a highly controversial issue among both the general population and the scientific community.
1033 wordsRead More - Genetic Testing and the US Healthcare Systemargumentative essayHealthcare in America is in a crisis. By 1996, more than 43 million Americans were uninsured. By 2010, the number is expected to rise to 57 million. These figures are already shocking, but they are even more so considering that the healthcare costs of the US total $1.2 trillion or 15% of the gross national product (GNP) – the highest in the world.
In this essay, the author
- Explains that genetic testing is the analysis of human dna, rna and chromosomes to detect heritable disease-related genotypes and mutations. prenatal, newborn, and carrier screening are included.
- Explains that genetic testing continues to have economic benefits for working and productive members of society.
- Opines that genetic testing needs to play an increasingly important role in the us healthcare system. it will allow healthcare providers to allocate resources more efficiently while still reducing overall healthcare expenditures.
- Proposes the widespread use of genetic testing in the us healthcare system to address the concerns of spiraling healthcare costs.
- Explains the importance of genetic testing in preventing and treating diseases such as alzheimer's, cancer, and breast cancer.
- Argues that genetic testing can reduce healthcare costs if used as a form of preventive medicine.
- Argues that genetic testing saves money in the short-term by more efficiently adopting a preventive medicine approach.
- Explains that genetic testing is essential for the proper diagnosis of rare single-gene disorders. genetic testing eliminates mental and physical anguish associated with disease.
- Proposes ratification of bills in congress outlawing genetic discrimination by insurance providers.
2450 wordsRead More - Breast Cancer Susceptibility Screeningopinionated essayEng, C., and J. Vijg. 1997. Genetic testing: the problems and the promise. Nature Biotechnology 15:422-426.
In this essay, the author
- Explains that brca1, a breast cancer susceptibility gene, has had an unprecedented impact on the study of cancer genetics.
- Opines that the ethics of genetic testing for breast cancer must be examined as a critical aspect of the issue.
- Explains that the human body contains two major classes of regulatory genes that are necessary for normal cell growth control: proto-oncogenes and tumor suppressor genes.
- Explains that brca1 was the first breast cancer gene to be isolated through positional cloning methods.
- Explains that brca2 is located on the long arm of chromosome 13 and codes for a large, negatively charged protein.
- Explains the technical aspects of genetic screening for breast cancer by presenting the major techniques used, how these differ, and which ones are currently the most promising.
- Explains that the size and complexity of breast cancer genes is a major obstacle in developing successful screening techniques.
- Explains that genetic screening techniques are grouped into two main categories: screening and scanning methods. screening methods involve probing the gene for previously identified mutations.
- Explains that mutation scanning methods involve scanning the gene with no presumptions about existing mutations. only the promoter region, coding regions, and splice sites are incorporated.
- Explains that nucleotide sequencing is currently the standard against which other methods are compared, due to its extremely high accuracy. however, this method is laborious and expensive.
- Explains that chip technology involves impregnating dna sequences onto a microchip and comparing them to variants through hybridization analysis. this method is suitable for confined mutations in brca1.
- Explains that the test of molecular phenotype is not suitable for breast cancer susceptibility genes because the exact functions of these genes are not yet known.
- Opines that protein truncation tests are the most promising method for determining breast cancer susceptibility.
- Explains that an ideal genetic test for breast cancer would conform to the following criteria:cost effective (less than $100 per gene or gene combination)100% specificity 100% sensitivity rapiduser friendlyethical considerations
- Argues that genetic screening is unethical due to uncertainty, psychological impact, false sense of security, and potential for discrimination.
- Explains that genetic discrimination is an ethical issue that has been regulated by the health insurance portability and accountability act of 1996.
- Opines that genetic test results alone cannot be treated as a pre-existing condition. group medical plans cannot force any person to pay higher premiums than people of equal status.
- Opines that genetic screening for breast cancer susceptibility is an incredible advance in the field of cancer genetics, but it does have limitations.
- Opines that genetic screening should only be undergone by women who have a strong family history of breast cancer and fully understand the implications of test results.
- Opines that the current genetic tests are far from perfect, but they open up a whole new door into the future.
- Explains that gene testing for cancer susceptibility: what your institution needs to know. http://www.medscape.com/accc/oncissues/1997/v12.n02/oi1202.02.
- Analyzes the link between genetic testing and familial breast and ovarian cancer.
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