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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 to make 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 are contained 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.

legal. (2) the clinical integration of genetic technologies. may result to an overwhelming sense of fear. Genetic testing may not always be accurate in pinpointing who will develop a specific health condition. Ethical. genetic testing still is a relatively new medical intervention for which regulatory and legal controls are unclear and the pathway for the clinical integration of new predictive tests has yet to be established. 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. (3) issues surrounding the conduct of genetics research. for example. the risk becomes even greater. the risk is increased by family history. However. Because genetic information is personal. Cancer. but also to address up front the broader implications of these newfound abilities to decipher genetic information. NHGRI commits 5 percent of its extramural research budget to support research on the ethical. may cause feelings of guilt in case another member of the family sustains the disease. If a test reveals a significant alteration in a gene. researchers and health care providers agree that predictive genetic testing should not be offered in the clinical setting without knowing the reliability and validity of the tests. However. Many also have raised concerns about the clinical use of genetic tests in the absence of safe and effective medical interventions for people who are found to carry inherited alterations that put them at high risk for disease. and social implications (ELSI) of advances in genetics. a test result may also have emotional implications. Legal and Social Implications In general. and potentially predictive. the Human Genome Project of the NHGRI recognized the responsibility not only to develop powerful new gene-finding technologies. As genome diagnostic and treatment technologies move from the . From its inception. A positive result. its misuse can have significant consequences to individuals or to groups of individuals. powerful. and their effect on risk can be swayed by such factors as one's lifestyle or the environment. In a number of cases. Genetic Testing Having the complete set of human genes – the periodic table for biology – will make it possible to begin to understand how genes function and interact. and (4) public and professional education in genetics. the HGP does not stop with completion of the human sequence. A negative result. This rapid availability of genomic resources and tools will accelerate dramatically the isolation of genes involved in disease and in drug response. on the other hand. for instance. But.Either way. All of human biology then likely will be divided into what we knew before having the human DNA sequence and what we knew after. The early goals of the ELSI program focused on four high-priority areas: (1) the use and interpretation of genetic information. is believed to be caused by altered genes. What is certain is that all people are always at risk for the various known diseases.

metagenomics. Predict risk of future disease in healthy individuals and alert patients and their health care providers to begin prevention strategies. nurse. Genetic testing identifies changes inchromosomes. however. Although many states have attempted to address "genetic discrimination" in health insurance and the workplace. In the next century. and can also be used to determine a child's parentage (genetic mother and father) or in general a person's ancestry.laboratory into the health care setting.[4] This article focuses on genetic testing for medical purposes. Protections must be erected against the misuse of genetic information. In addition to studying chromosomes to the level of individual genes. The Task Force on Genetic Testing report provided a good starting point for that process. Some also are being used to identify individuals at high risk for problems such as glaucoma. and allowing potential life-saving interventions. Every physician. but there will not be enough of them to go around. over 550 genetic tests are being used in the diagnosis of disease. the genebased approach to medicine will revolutionize how we diagnose and treat disease and genetic testing will be a critical tool in the health care provider's arsenal Conclusion Madam Chairwoman. and health care provider will need to become familiar with this emerging field of genetic medicine. The vision for the new century of genetically based individualized preventive medicine is exciting. The need for medical genetic specialists who can sort out the most complex cases will be considerable. and social implications. Several hundred genetic tests are currently in use.[citation needed] Because genetic mutations can directly affect the structure of the proteins they code for. Cs. federal legislation would provide the most comprehensive protections. colon cancer.[2][3] Since genetic testing may open up ethical or psychological problems. and more are being developed. genes. These include . which actually produces a sequences of As. also known as DNA testing.[1] Most of the time. is used in molecular biology. or looking at stained or fluorescent chromosomes under a microscope. and Ts. Fears about the loss of privacy of genetic information and the loss of a job or insurance coverage may make people hesitant to use medical advances. Finally. or mutant forms of genes associated with increased risk of developing genetic disorders. and microbiome research. inherited kidney cancer. legal. Today. and could make a profound contribution to human health. There is still much work to be done. DNA sequencing. allows the genetic diagnosis of vulnerabilities to inherited diseases. testing for specific genetic diseases can also be accomplished by looking at those proteins or their metabolites. new genetic testing methods will make it possible to read the instructions contained in an individual’s DNA. Genetic testing. I commend you convening this hearing today on advances in genetic testing technology. or proteins. They also may be hesitant to volunteer for studies of disease-linked gene mutations for fear the results could be used against them. For its full potential to be realized. evolutionary biology. testing is used to find changes that are associated with inherited disorders. and most genetic medicine will be delivered by primary care providers. ecology. Doctors use genetic tests for several reasons. genetic testing is often accompanied by genetic counseling. Genetic tests are tests on blood and other tissue to find genetic disorders. genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases. Now is the time for all parties to come together and develop a meaningful framework for insuring the safe and effective use of new genetic technologies in medicine. Such knowledge may:    Confirm a diagnosis of an individual who has already developed a disease. we must carefully attend to the accompanying ethical. we must implement the proper regulatory and legal framework for the successful clinical integration of emerging genetic technologies. Over 2000 tests are available. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Gs. epidemiology. and other disorders before they become ill. or Identify risks of having a child with an inherited disorder.

and confidentiality (outlined below). In some cases. Genetic screening is distinct from screening for other conditions in that it has the potential impact not just on the individuals being screened. For some. The public view genetics with a sense of inevitability. it is important to know whether a disease can be prevented or treated if a test is positive. This raises a number of ethical issues: Consent to being screened   Patients need to be sufficiently informed about the implications of genetic screening before they can provide informed consent. In vitro fertilization (IVF) in combination with PGD may provide such high-risk couples with a pregnancy with no chance of genetic disorder transmission. The may include prenatal diagnosis and possible pregnancy termination in the case of an affected fetus.  The voluntary nature of the screening process must be emphasised. . A genetic counselor can provide information about the pros and cons of testing. but also their family members and society generally. Couples known to carry a recessive or dominant single gene defect or sex-linked condition need counselling about their reproductive options.   Support is needed for individuals who need to consider issues such as stigma. counselling should be available to provide information about genetic risk and explain choices regarding genetic testing and further management. However. The risk of stigma  The public's understanding of genetics may be limited and can lead to stigma. But test results might help a person make life decisions. disclosure to family members. Counselling  To reduce potential psychological distress.      Finding genetic diseases in unborn babies Finding out if people carry a gene for a disease and might pass it on to their children Screening embryos for disease Testing for genetic diseases in adults before they cause symptoms Making a diagnosis in a person who has disease symptoms Figuring out the type or dose of a medicine that is best for a certain person People have many different reasons for being tested or not being tested. and preimplantation genetic diagnosis (PGD). but may modify risks from environmental or lifestyle factors. there is no treatment. a genetic condition alone may be insufficient to cause disease. such as family planning or insurance coverage.

Several cases of misuse of genetic screening results have occurred that led to reduced access to medical care. Some commentators have argued that the ability to only select 'perfect' babies is a form of eugenics. the doctor patient relationship protects against disclosure of genetic information. there is less clarity in cases where relatives wish to know the results of a family member's genetic test. given that the results may impact negatively on family members. Standard medical practice is based on the principles that doctors should focus on their patients and that medical information should remain confidential. However.  Identification of a genetic condition before birth raises issues of whether the parents wish to terminate the pregnancy.    However. Under normal practice. many employers already require medical examinations before employment. . the Human Genetics Committee.   Confidentiality Like other medical information. Although most professional bodies believe that disclosure should not be against patients' consent.     Possible use of genetic information by insurers or employers The primary concern among the public is the use of genetic information to deny access to health insurance or medical treatment. and may wish to use genetic tests to identify individuals who may be at particular risk of occupational diseases. Misunderstanding of the genetic risk of developing diseases can increase stigmatization. or decisions about having children.  The storage of genetic screening data and registries of patients creates particular concern. GMC and the Department of Health endorse disclosure only when the benefits substantially outweigh the patient's claims to confidentiality. health insurers claim the right to access such data where it exists to avoid the 'moral hazard' of patients with known conditions taking out an insurance policy without disclosing this information.  There are also concerns that employers may use genetic screening results to discriminate against workers. lifestyle choices.    It is unclear if doctors are ethically permitted to inform relatives in cases when the result of a genetic test indicates real risk to their health. Another particular dilemma is the case of a pregnant woman wanting to know the result of a test taken by the baby's father. as it may have direct relevance for them (see below). there have been some cases where the rights of relatives have won priority. Disclosure to family members  Doctors face a dilemma when reporting the results of genetic screening. In the UK. results from genetic testing are considered confidential. This may be around life expectancy. Conversely. Doctors may also be faced with a decision about whether to persuade patients about the need to disclose their test result to relatives.