What are the benefits of genetic testing?

What are the benefits of genetic testing?

Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options.

Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.

What are the risks and limitations of genetic testing?

The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a method that samples cells from the inside surface of the cheek). The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.

Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern.

Genetic testing can provide only limited information about an inherited condition. The test often can’t determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.

A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.

What is genetic discrimination?

Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. Fear of discrimination is a common concern among people considering genetic testing.

Several laws at the federal and state levels help protect people against genetic discrimination. In particular, a federal law called the Genetic Information Nondiscrimination Act (GINA) is designed to protect people from this form of discrimination.

GINA has two parts: Title I, which prohibits genetic discrimination in health insurance, and Title II, which prohibits genetic discrimination in employment. Title I makes it illegal for health insurance providers to use or require genetic information to make decisions about a person’s insurance eligibility or coverage. This part of the law went into effect on May 21, 2009. Title II makes it illegal for employers to use a person’s genetic information when making decisions about hiring, promotion, and several other terms of employment. This part of the law went into effect on November 21, 2009.

GINA and other laws do not protect people from genetic discrimination in every circumstance. For example, GINA does not apply when an employer has fewer than 15 employees. It does not cover people in the U.S. military or those receiving health benefits through the Veterans Health Administration or Indian Health Service. GINA also does not protect against genetic discrimination in forms of insurance other than health insurance, such as life, disability, or long-term care insurance.

Can genes be patented?

A gene patent is the exclusive rights to a specific sequence of DNA (a gene) given by a government to the individual, organization, or corporation who claims to have first identified the gene. Once granted a gene patent, the holder of the patent dictates how the gene can be used, in both commercial settings, such as clinical genetic testing, and in noncommercial settings, including research, for 20 years from the date of the patent. Gene patents have often resulted in companies having sole ownership of genetic testing for patented genes.

On June 13, 2013, in the case of the Association for Molecular Pathology v. Myriad Genetics, Inc., the Supreme Court of the United States ruled that human genes cannot be patented in the U.S. because DNA is a “product of nature.” The Court decided that because nothing new is created when discovering a gene, there is no intellectual property to protect, so patents cannot be granted. Prior to this ruling, more than 4,300 human genes were patented. The Supreme Court’s decision invalidated those gene patents, making the genes accessible for research and for commercial genetic testing.

The Supreme Court’s ruling did allow that DNA manipulated in a lab is eligible to be patented because DNA sequences altered by humans are not found in nature. The Court specifically mentioned the ability to patent a type of DNA known as complementary DNA (cDNA). This synthetic DNA is produced from the molecule that serves as the instructions for making proteins (called messenger RNA).

Source: https://ghr.nlm.nih.gov/primer 

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