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.

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 by altered 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 the clinical setting without knowing the reliability and validity of the tests. 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. However, 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. 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 these newfound 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 social implications (ELSI) of advances in genetics. The early goals of the ELSI program focused on four high-priority areas: (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 to understand 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 completion of the human sequence. This rapid availability of genomic resources and tools will accelerate dramatically the isolation of genes involved in disease and in drug response. As genome diagnostic and treatment technologies move from the

laboratory into the health care setting, new genetic testing methods will make it possible to read the instructions contained 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 identify individuals at high risk for problems such as glaucoma, colon cancer, inherited kidney cancer, and other disorders before they become ill, and allowing potential life-saving interventions. In the next century, 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, 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 carefully attend 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 genetic information 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 be used against them. Although many states have attempted to address "genetic discrimination" in health insurance and 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 genetic medicine. The need for medical genetic specialists who can sort out the most complex cases will be considerable, 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 of emerging 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 a meaningful 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 also be used to determine a child's parentage (genetic mother and father) or in general a person's ancestry. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes inchromosomes, genes, or proteins.[1] Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are 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 genetic counseling.[citation needed] Because genetic mutations can directly affect the structure of the proteins they code for, testing for specific genetic diseases can also be accomplished by looking at those proteins or their metabolites, or looking at stained or fluorescent chromosomes under 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 genetic tests for several reasons. These include

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. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.

Genetic screening is distinct from screening for other conditions in that it has the potential impact not just on the individuals being screened, but also their family members and society generally. 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. The public view genetics with a sense of inevitability. However, a genetic condition alone may be insufficient to cause disease, but may modify risks from environmental or lifestyle factors. The voluntary nature of the screening process must be emphasised. Counselling To reduce potential psychological distress, counselling should be available to provide information about genetic risk and explain choices regarding genetic testing and further management. Support is needed for individuals who need to consider issues such as stigma, disclosure to family members, and confidentiality (outlined below). Couples known to carry a recessive or dominant single gene defect or sex-linked condition need counselling about their reproductive options. The may include prenatal diagnosis and possible pregnancy termination in the case of an affected fetus, and preimplantation genetic diagnosis (PGD). 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 risk of stigma The public's understanding of genetics may be limited and can lead to stigma.

Misunderstanding of the genetic risk of developing diseases can increase stigmatization. This may be around life expectancy, lifestyle choices, or decisions about having children.

Identification of a genetic condition before birth raises issues of whether the parents wish to terminate the pregnancy. Some commentators have argued that the ability to only select 'perfect' babies is a form of eugenics.

Confidentiality Like other medical information, results from genetic testing are considered confidential. Under normal practice, the doctor patient relationship protects against disclosure of genetic information.

However, there is less clarity in cases where relatives wish to know the results of a family member's genetic test, as it may have direct relevance for them (see below). Another particular dilemma is the case of a pregnant woman wanting to know the result of a test taken by the baby's father. In the UK, the Human Genetics Committee, GMC and the Department of Health endorse disclosure only when the benefits substantially outweigh the patient's claims to confidentiality.

The storage of genetic screening data and registries of patients creates particular concern, given that the results may impact negatively on family members. Disclosure to family members

Doctors face a dilemma when reporting the results of genetic screening. Standard medical practice is based on the principles that doctors should focus on their patients and that medical information should remain confidential.

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. Doctors may also be faced with a decision about whether to persuade patients about the need to disclose their test result to relatives. Although most professional bodies believe that disclosure should not be against patients' consent, there have been some cases where the rights of relatives have won priority.

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. Several cases of misuse of genetic screening results have occurred that led to reduced access to medical care. Conversely, 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. However, many employers already require medical examinations before employment, and may wish to use genetic tests to identify individuals who may be at particular risk of occupational diseases.