implication og genetic testing

8/13/2019 Implication Og Genetic Testing

1/5

To be able to determine a person's risks for certain diseases, particularly inherited

ones, scientists developed a process or method which is known today as genetic

testing. This medical marvel gives an individual (and his physician) a chance to gain

vital data about his genetic composition. The outcome of a test enables the person tomake educated choices concerning preventive care, lifestyle changes, and even

parenthood. It may thus help the individual or his children in preventing the

occurrence - or negating the effectiveness - of a disease. However, a person has to

understand that genetic testing has emotional, social, and legal implications.

To understand how genetic testing works, we also need to have a better appreciation

of those functional units of inheritance which control the transmission of traits - the

genes. Approximately eighty thousand to one hundred thousand copies of genes arecontained in every single cell of our body. Half of these genes are maternally

inherited, while the other half are received from the male parent. The genes play a

big part in determining the characteristics of a person, such as the color of the eyes,

the texture of the hair, or the shape of the foot.

A significant alteration in a particular gene may be a sign of a greater risk for a

specific health disorder. By testing saliva, blood, or tissue specimen, scientists can

identify such gene alterations.

Adults who have a history of a specific disease in the family may consider genetic

testing to determine if they are at risk, and to know what actions to take to prevent

the sickness from occurring or to best handle it. If you are indeed considering genetic

testing, realize that it has certain implications. For example, the geneticist may ask you the following: if you have a child with birth imperfections; if you experienced

stillbirths; or if a particular disease runs in your family. These are information you

may not be willing to disclose. Similarly, you may be unwilling to divulge details from

postmortem accounts. Revealing such information certainly has both social and legal

implications.


2/5

Either way, a test result may also have emotional implications. A positive result, for

instance, may result to an overwhelming sense of fear. A negative result, on the other

hand, may cause feelings of guilt in case another member of the family sustains the

disease.

Genetic testing may not always be accurate in pinpointing who will develop a specific

health condition. What is certain is that all people are always at risk for the various

known diseases. In a number of cases, the risk is increased by family history. If a test

reveals a significant alteration in a gene, the risk becomes even greater. However, it

is also possible that those who are at high risk of contracting certain illness may not

at all suffer from it in their lifetime. Cancer, for example, is believed to be caused byaltered genes, and their effect on risk can be swayed by such factors as one's lifestyle

or the environment.

Ethical, Legal and Social Implications

In general, researchers and health care providers agree that predictive genetic testing should not be offered in theclinical setting without knowing the reliability and validity of the tests. Many also have raised concerns aboutthe clinical use of genetic tests in the absence of safe and effective medical interventions for people who arefound to carry inherited alterations that put them at high risk for disease. However, genetic testing still is arelatively new medical intervention for which regulatory and legal controls are unclear and the pathway for theclinical integration of new predictive tests has yet to be established.

From its inception, the Human Genome Project of the NHGRI recognized the responsibility not only to develop powerful new gene-finding technologies, but also to address up front the broader implications of thesenewfound abilities to decipher genetic information. Because genetic information is personal, powerful, and

potentially predictive, its misuse can have significant consequences to individuals or to groups of individuals. NHGRI commits 5 percent of its extramural research budget to support research on the ethical, legal, and socialimplications (ELSI) of advances in genetics. The early goals of the ELSI program focused on four high-priorityareas: (1) the use and interpretation of genetic information; (2) the clinical integration of genetic technologies;(3) issues surrounding the conduct of genetics research; and (4) public and professional education in genetics.

Genetic Testing

Having the complete set of human genes the periodic table for biology will make it possible to begin tounderstand how genes function and interact. All of human biology then likely will be divided into what we knew

before having the human DNA sequence and what we knew after. But, the HGP does not stop with completionof the human sequence.

This rapid availability of genomic resources and tools will accelerate dramatically the isolation of genesinvolved in disease and in drug response. As genome diagnostic and treatment technologies move from the


3/5

laboratory into the health care setting, new genetic testing methods will make it possible to read the instructionscontained in an individuals DNA. Such knowledge may:

Confirm a diagnosis of an individual who has already developed a disease; Predict risk of future disease in healthy individuals and alert patients and their health care providers to

begin prevention strategies; or Identify risks of having a child with an inherited disorder.

Today, over 550 genetic tests are being used in the diagnosis of disease. Some also are being used to identifyindividuals at high risk for problems such as glaucoma, colon cancer, inherited kidney cancer, and otherdisorders before they become ill, and allowing potential life-saving interventions. In the next century, the gene-

based approach to medicine will revolutionize how we diagnose and treat disease and genetic testing will be acritical tool in the health care provider's arsenal

Conclusion

Madam Chairwoman, I commend you convening this hearing today on advances in genetic testing technology.The vision for the new century of genetically based individualized preventive medicine is exciting, and could

make a profound contribution to human health. For its full potential to be realized, however, we must carefullyattend to the accompanying ethical, legal, and social implications.

Protections must be erected against the misuse of genetic information. Fears about the loss of privacy of geneticinformation and the loss of a job or insurance coverage may make people hesitant to use medical advances.They also may be hesitant to volunteer for studies of disease-linked gene mutations for fear the results could beused against them. Although many states have attempted to address "genetic discrimination" in health insuranceand the workplace, federal legislation would provide the most comprehensive protections.

Every physician, nurse, and health care provider will need to become familiar with this emerging field of geneticmedicine. The need for medical genetic specialists who can sort out the most complex cases will beconsiderable, but there will not be enough of them to go around, and most genetic medicine will be delivered by

primary care providers.

Finally, we must implement the proper regulatory and legal framework for the successful clinical integration ofemerging genetic technologies. The Task Force on Genetic Testing report provided a good starting point for that

process. There is still much work to be done. Now is the time for all parties to come together and develop ameaningful framework for insuring the safe and effective use of new genetic technologies in medicine.

Genetic testing , also known as DNA testing , allows the genetic diagnosis of vulnerabilities to inherited diseases , and can alsobe used to determine a child's parentage (genetic mother and father) or in general a person's ancestry . In addition tostudying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for thepossible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing geneticdisorders. Genetic testing identifies changes i nchromosomes , genes, or proteins .[1] Most of the time, testing is used to findchanges that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected geneticcondition or help determine a person's chance of developing or passing on a genetic disorder . Several hundred genetic testsare currently in use, and more are being developed . [2][3]

Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by geneticcounseling .[

citation needed ]

Because genetic mutations can directly affect the structure of the proteins they code for, testing for specific genetic diseasescan also be accomplished by looking at those proteins or their metabolites, or looking at stained or fluorescent chromosomesunder a microscope .[4]

This article focuses on genetic testing for medical purposes. DNA sequencing , which actually produces a sequences of As, Cs,Gs, and Ts, is used in molecular biology , evolutionary biology , metagenomics , epidemiology , ecology , and microbiome research.

Genetic tests are tests on blood and other tissue to find genetic disorders . Over 2000 tests are available. Doctors use genetictests for several reasons. These include
http://en.wikipedia.org/wiki/Geneticshttp://en.wikipedia.org/wiki/Geneticshttp://en.wikipedia.org/wiki/Medical_diagnosishttp://en.wikipedia.org/wiki/Medical_diagnosishttp://en.wikipedia.org/wiki/Medical_diagnosishttp://en.wikipedia.org/wiki/Diseaseshttp://en.wikipedia.org/wiki/Diseaseshttp://en.wikipedia.org/wiki/Diseaseshttp://en.wikipedia.org/wiki/Ancestryhttp://en.wikipedia.org/wiki/Ancestryhttp://en.wikipedia.org/wiki/Ancestryhttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Biochemicalhttp://en.wikipedia.org/wiki/Biochemicalhttp://en.wikipedia.org/wiki/Biochemicalhttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Genetic_testing#cite_note-1http://en.wikipedia.org/wiki/Genetic_testing#cite_note-1http://en.wikipedia.org/wiki/Genetic_testing#cite_note-1http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_testing#cite_note-2http://en.wikipedia.org/wiki/Genetic_testing#cite_note-2http://en.wikipedia.org/wiki/Genetic_testing#cite_note-2http://en.wikipedia.org/wiki/Genetic_counselinghttp://en.wikipedia.org/wiki/Genetic_counselinghttp://en.wikipedia.org/wiki/Genetic_counselinghttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Genetic_testing#cite_note-4http://en.wikipedia.org/wiki/Genetic_testing#cite_note-4http://en.wikipedia.org/wiki/Genetic_testing#cite_note-4http://en.wikipedia.org/wiki/DNA_sequencinghttp://en.wikipedia.org/wiki/DNA_sequencinghttp://en.wikipedia.org/wiki/DNA_sequencinghttp://en.wikipedia.org/wiki/Molecular_biologyhttp://en.wikipedia.org/wiki/Molecular_biologyhttp://en.wikipedia.org/wiki/Molecular_biologyhttp://en.wikipedia.org/wiki/Evolutionary_biologyhttp://en.wikipedia.org/wiki/Evolutionary_biologyhttp://en.wikipedia.org/wiki/Evolutionary_biologyhttp://en.wikipedia.org/wiki/Metagenomicshttp://en.wikipedia.org/wiki/Metagenomicshttp://en.wikipedia.org/wiki/Metagenomicshttp://en.wikipedia.org/wiki/Epidemiologyhttp://en.wikipedia.org/wiki/Epidemiologyhttp://en.wikipedia.org/wiki/Epidemiologyhttp://en.wikipedia.org/wiki/Ecologyhttp://en.wikipedia.org/wiki/Ecologyhttp://en.wikipedia.org/wiki/Ecologyhttp://en.wikipedia.org/wiki/Microbiomehttp://en.wikipedia.org/wiki/Microbiomehttp://en.wikipedia.org/wiki/Microbiomehttp://www.nlm.nih.gov/medlineplus/geneticdisorders.htmlhttp://www.nlm.nih.gov/medlineplus/geneticdisorders.htmlhttp://www.nlm.nih.gov/medlineplus/geneticdisorders.htmlhttp://www.nlm.nih.gov/medlineplus/geneticdisorders.htmlhttp://en.wikipedia.org/wiki/Microbiomehttp://en.wikipedia.org/wiki/Ecologyhttp://en.wikipedia.org/wiki/Epidemiologyhttp://en.wikipedia.org/wiki/Metagenomicshttp://en.wikipedia.org/wiki/Evolutionary_biologyhttp://en.wikipedia.org/wiki/Molecular_biologyhttp://en.wikipedia.org/wiki/DNA_sequencinghttp://en.wikipedia.org/wiki/Genetic_testing#cite_note-4http://en.wikipedia.org/wiki/Wikipedia:Citation_neededhttp://en.wikipedia.org/wiki/Genetic_counselinghttp://en.wikipedia.org/wiki/Genetic_counselinghttp://en.wikipedia.org/wiki/Genetic_testing#cite_note-2http://en.wikipedia.org/wiki/Genetic_testing#cite_note-2http://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Genetic_testing#cite_note-1http://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Biochemicalhttp://en.wikipedia.org/wiki/Chromosomeshttp://en.wikipedia.org/wiki/Ancestryhttp://en.wikipedia.org/wiki/Diseaseshttp://en.wikipedia.org/wiki/Medical_diagnosishttp://en.wikipedia.org/wiki/Genetics


4/5


5/5

implication og genetic testing

Documents