...Conclusion In the systematic analysis of the 23 studies we have highlighted the role of Leventhal’s Common Sense Model (SRM) in the analysis of hereditary / familial cancer and the role of the psycho-social impact on individuals affected by the disease or with high risk for the disease in the screening for hereditary / familial cancer and in the genetic testing and counseling. Thus, we have identified three themes in which we included the analyzed studies: a) identification of the predictors involved in the screening compliance, in the responses to health threats, in emotional distress; b) assessment of the emotional and cognitive impact, of the perceived risk and the perceived disease in genetic testing, of the family history of cancer or...
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...financial objectives are one of the most important considerations. With the recent passage of the Affordable Care Act, an insurer can no longer deny coverage for pre-existing conditions. Additionally all members of the public are required to be insured by 2014 as there are penalties for, not purchasing health insurance. This influx of new additional clients has created a boon for the healthcare industry, (La Monica 2015), insurance companies will face rising costs as more people join plans with pre-existing conditions. To ensure that the risks associated with new and existing members of their plans appropriately match their rewards, Magellan health has partnered with Informed DNA. This partnership will allow Magellan Health to provide genetic screening for susceptibility to disease, providing patient value. However, it will additionally enable Magellan to better manage costs and assess risk factors for certain patients. In order for our...
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...PERCEPTIONS OF GENETIC TESTING AMONG HISPANIC FAMILY MEMBERS OF BREAST CANCER SURVIVORS Objective: To provide a preliminary description of the interest, awareness, and perceptions of genetic testing among Hispanics with a family history of breast cancer Design: This cross-sectional pilot study used interpersonal structured interviews for data collection. Participants: We interviewed 48 Hispanics without breast cancer but who had a family member with breast cancer; participants lived in San Antonio and the surrounding area. Main Outcome: The outcomes were interest in breast cancer genetic testing, awareness about genetic testing, perceived risk of carrying a breast cancer susceptibility gene, and the perceived benefits and risks associated with a genetic test. Measures: Items previously used in research regarding interest and perceived genetic risk and a previously validated benefits and riskslimitations scale for genetic testing commonly used by other researchers were used to measure the outcomes. Results: Awareness of genetic testing for breast cancer susceptibility was very low, yet most (82%) participants were interested in a genetic test for breast cancer susceptibility. Participants were more likely to identify with the benefits than the potential risks of genetic testing. The most highly endorsed benefits were to know to take better care of one’s self and to undergo more frequent screening. Conclusions: Hispanics seem to have positive perceptions about genetic testing for...
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...Genetic profiling at birth: a storm in a teacup? 18 August 2003 By Juliet Tizzard Director, Progress Educational Trust Appeared in BioNews 221 This week's BioNews reports on an interview with Human Genetics Commission chair, Baroness Helena Kennedy, in which she describes the idea of carrying out genetic profiling of newborn babies as 'unlikely'. In the interview, published in the Financial Times, Kennedy voices her concern that we might rush ahead with new genetic tests before the public is ready. 'That's where the public has concerns,' she said. 'Insurance, employment, ways in which people with a certain genetic trait might be discriminated against.' According to the Financial Times, she concluded that the Human Genetics Commission (HGC) was unlikely to recommend that such a system be introduced. Baroness Kennedy's comments quickly became the subject of news stories in other newspapers. The Observer newspaper ran the story under the title 'Fears over genetic profiles for all'. The article opened 'Plans for every baby to be genetically screened at birth came under fierce attack yesterday from the Government's advisory watchdog on the new science'. And so, a relatively anodyne comment was represented as a clash of ideas between the government and its own watchdog. Another consequence of the flurry of excitement to Baroness Kennedy's comments is that what started off as a possible future service has now become, in the public imagination, a reality. Readers of the...
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...PGD – Pre-implantation Genetic Diagnosis. IVF is known as in vitro fertilisation. This procedure is done by removing an egg from a female, and a sperm cell from the male and combining the egg and sperm in a test tube. These two then form together and create a zygote, which then begins separating into and forming an embryo . PGD, is the pre-implantation genetic diagnosis. It is known as the pre testing of pre-implanted embryos for genetic disorders. This operation has been put into place for couples whose offspring will potentially have a risk of inheriting a genetic disorder from the parents . PGD tests for many disorders that can affect the unborn embryo/baby. Some of the diseases that can be scanned for are recessive sex-linked disorders,...
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...In recent years, the issue of poor breeding practices and inherited disorders in purebred dogs has been controversial. In response, breeding programs have incorporated diagnostic DNA tests to screen out susceptible individuals and to improve health concerns in purebred dogs. However, the prevalence of genetic diseases within the pedigree population has continued to rise, which poses the question: does the likelihood of inheriting a condition increase as the genetic variation in purebred dogs decrease? Therefore, deciphering the correlation between the genetic variation in purebred dogs and the presence of genetic disorders is of great interest. We employed PCR, gel electrophoresis and RFLP analysis to examine this question. Our work involved...
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...The child may manifest impairments in communication, behavior, and socializing with others. Diagnostic practice and screening may vary depending on the individual professionals. The Checklist for Autism in Toddlers was one of the first assessments developed to screen for autism in preschoolers and was designed to be administered at routine developmental assessment at 18 months of age. This assessment was found to have good specificity but poor sensitivity, resulting in an unacceptable number of missed cases. (Pasco, p.109). The two most promising screening tools currently are the Modified CHAT and the Social Communication Questionnaire. Today, the Modified Checklist for Autism in toddlers, Revised with Follow Up is used to screen children. It has been shown to significantly lower the age of the diagnosis which facilitates early treatment. If screening for autism is positive, additional testing is performed to rule out other causes of the child’s behavior including CT scan or MRI, lead screening, metabolic studies, DNA analysis, and electroencephalogram. Early intervention helps maximize the child’s potential by improving developmental skills and behaviors, as well as establishing helpful support for parents. (Ball, Bindler, Cowen,...
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...E Poole Beecham English 101 10059 19 April 2010 Genetic Testing Imagine choosing your daughter to have high intelligence. No one would fault the parents for giving their daughter this advantage for life. Parents can make the decision to use any safe drug or therapy to enhance their future children to make them smarter, better, stronger, to increase their intelligence, height, or other traits (Zane). Testing for medical tendencies to screen and reduce the possibility of future illness or diseases is now feasible. Genetic testing can enhance and improve lives with immeasurable benefits. The rewards of this testing outweigh any reservations. Genetic testing are examinations of blood and other tissues of the body that doctors in the medical field prepare to test for possible defects of the body. These DNA based tests generally involves direct examination of the DNA molecule itself and are very sophisticated techniques of testing genetic disorders in the bodies of human beings. Prenatal genetic testing with the procedure of pre-implantation genetic diagnosis, or PGD is a technique whereby testing is performed of an approximate three-day-old embryo to confirm that it does not carry a particular disease or diseases (Naik). The test predicts, with variable confidence, what the possible medical problems will be in the future. Then the doctor implants this embryo, which is free of that syndrome, in the mother's womb. It appears to be relatively easy to check the DNA and eliminate...
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...1) Ethical and conceptual issues Current research and research results It is increasingly recognized that within many areas (e.g., disability and handicap), conceptual issues and ethical issues about proper conduct and underlying values are highly intergrated. The treatment of ethical and policy issues depends on the content of the concepts employed and, at the same time, many central concepts are informed by moral opinions and, as a result, contested on ethical grounds. Taking this intergration of conceptual and ethical issues seriously from a research point of view requires that they are very strongly interconnected, i.e. mere studies of the way in which concepts are in fact informed by moral opinions and social values is not siffucient. Outright normative analyses of underlying ethical views need to underpin suggestions with regard to the way in which central concepts should be employed in policy contexts. This has been recognised in research on the basic ethical issue of what should be seen as the basic determinant of the quality of life or well-being (Brülde 1998, 2006), as well as research on applied ethics of relevance for disability (Brülde 2003; Munthe 1996, 1999; Juth 2005; Juth & Munthe 2006), and concepts such as happiness, health, illness, and mental disorder (Brülde 2000, 2006a, 2006b). Research on several of the conceptual issues has demonstrated how they are strongly connected to ethical problems related to health care policies and public health practices...
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...Each year in the United States, about 6,000 infants are born with Down syndrome, which is roughly 1 in 700. Down syndrome is a genetic chromosome disorder causing developmental and intellectual delays. Therefore, many families, in the early twentieth century, thought that children with Down syndrome were less human and required care that the families could not do. Many children with Down syndrome were put into intuitions soon after birth. These children were put into large institutions so that society would not have to see the horror of their lives. Down syndrome is a genetic disorder that causes developmental and intellectual delays, abnormal appearance, and an impact on family. Down syndrome can be diagnosed in two ways before the baby is born: parental screening, and diagnostic test. Parental screening can check if the fetus has a chance of having Down syndrome. This test does not tell you for sure if your child may have Down syndrome, just an estimate....
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...move those same worms that laid eggs in the first plate to new plated labeled P0B(1-5) to lay another set of eggs (using the same method as before). These will be 2 sets of F1 generations. After 12-24 hours pick the worms from P0B plates 1-5 and burn them. After 1-2 days has passed from when the POA and POB plates possessed eggs, worms of that F1 generation should be present. Then using the same moving procedures as before move 4-5 POA worms from each plate into a new plate labeled F1A(1-5). And repeat the same for POB(1-5) to F1B(1-5). After 24 hours those 4-5 worms in each of the F1 plates have laid eggs, and they can now be flamed or killed, leaving only eggs in all F1 generation plates. After the eggs hatch observations can begin, screening for desired phenotypes. As the desired phenotypes are located they can then be moved to the small NGM plates to further develop. After those chosen worm that represent the notch head phenotype lays eggs do not flame the worm and allow for F3 generation to...
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...neither given nor received inappropriate aid on this assignment” Tay-Sach's Disease Disease and the deterioration it causes on the human existence is a tragic but inevitable phenomenon that man has dealt with throughout time. Death is unavoidable, yet the situation becomes evermore helpless when it strikes the young; the innocent who have not had their share of time, as is the case with a condition like Tay-Sachs disease. Fortunately, much childhood disease that plagued us for centuries has been eradicated due to the advances of modern science, and with the prospects of genetic technology today, the future is looking promising for those that have manage to elude scientists, like Tay-Sachs. However, Tay-Sachs is not a disease that can be considered in terms of science alone; it effects a unique ethnic population whose history and beliefs need to be considered in a sensitive manner. Tay-Sachs disease is a genetic disorder that is devastating in its deadliness. This rare fatal disease is passed down through families. The disease’s hyphenated name is the result of two doctors, who worked independently of one another in the late 1800s. Dr. Warren Tay, an ophthalmologist, was the first to characterize one of the tell tale signs of the disease, the retina of the eye has a cherry red spot. A New York, neurologist, Dr. Bernard Sachs provided the first description of the biological mutations with Tay-Sachs disease. Tay-Sachs is a progressive neurodegenerative disorders. The individuals...
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...This is due to spontaneous mutation in the gene during reproduction.1 Genomic DNA from peripheral leukocytes can be screened using conformation-sensitive gel electrophoresis (CSGE) and single-strand conformation polymorphism (SSCP).8 Mutation screening of the FBN1 genomic sequences was performed by augmentation of 65 fragments.8 These methods has proven success for better diagnosis for patients suffering from Marfan syndrome. Although there is some diagnostic measure that can be done, an overall understanding is still lacking for better...
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...SIXTY-THIRD WORLD HEALTH ASSEMBLY Provisional agenda item 11.7 A63/10 1 April 2010 Birth defects Report by the Secretariat 1. The report aims to inform the discussion on birth defects, including definition, epidemiology, burden of disease and interventions for prevention and care, as well as indications of how these interventions might be integrated into existing health services. An earlier version of this report was considered by the Executive Board at its 126th session,1 following which the Board adopted resolution EB126.R6. DEFINITION 2. The International statistical classification of diseases and related health problems, tenth revision (ICD-10), includes birth defects in Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities. Birth defects like inborn errors of metabolism and blood disorders of prenatal origin appear in other chapters. Birth defects can be defined as structural or functional abnormalities, including metabolic disorders, which are present from birth. The term congenital disorder is considered to have the same definition; the two terms are used interchangeably.2 The eleventh revision of the classification provides an opportunity for a review of the current entry. 3. Irrespective of definition, birth defects can cause spontaneous abortions and stillbirths and are a significant but underrecognized cause of mortality and disability among infants and children under five years of age. They can be life-threatening, result in long-term...
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...This test usually preformed as a part of newborn screening. Isoelectric focusing is highly sensitive and accurate method. It has a higher resolution than electrophoresis, but it is less common due to its high cost. As well as the requirement of well-experienced laboratory staff. DNA analysis also called high-performance liquid chromatography, performed to diagnose the inherited disorders such as sickle cells. It can detect the mutations which occur in the genes that responsible of producing hemoglobin. It can determine whether the person is carrier or affected of sickle cell. The carrier individual has one copy of defective gene that codes for Hb S and another normal copy so he/she can live normal life; while someone who has two copies of mutant Hb S is said to be affected of sickle cell disease. Prenatal testing provides definitive diagnosis of genetic diseases which one of them is sickle cell disease. It is done by taking a sample of amniotic fluid during 14 to 16 weeks of the...
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