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Benefits, costs, risks, and limitations of genetic testing
Please choose from the following list of questions for information about testing to identify changes in a person’s genes, chromosomes, or proteins.
On this page:
What is genetic testing?
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. 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. More than 1,000 genetic tests are currently in use, and more are being developed.
Several methods can be used for genetic testing:
Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
For general information about genetic testing:
MedlinePlus offers a list of links to information about genetic
The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic
The National Institutes of Health fact sheets Genetic Testing: What It Means for Your Health and for Your Family’s
Educational resources related to genetic
The Genetics and Public Policy Center also offers information about genetic
You can also search for clinical trials involving genetic testing.
What are the types of genetic tests?
Genetic testing can provide information about a person’s genes and chromosomes. Available types of testing include:
For more information about the uses of genetic testing:
A Brief Primer on Genetic
Educational resources related to patient genetic testing/carrier
The Centre for Genetics Education offers fact sheets about types of testing used for prenatal
The National Newborn Screening and Genetics Resource
For information about forensic DNA testing, refer to the fact sheet DNA
How is genetic testing done?
Once a person decides to proceed with genetic testing, a medical geneticist, primary care doctor, specialist, or nurse practitioner can order the test. Genetic testing is often done as part of a genetic consultation.
Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a person’s doctor or genetic counselor.
Newborn screening tests are done on a small blood sample, which is taken by pricking the baby’s heel. Unlike other types of genetic testing, a parent will usually only receive the result if it is positive. If the test result is positive, additional testing is needed to determine whether the baby has a genetic disorder.
Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent.
For more information about genetic testing procedures:
Scientific Testimony, an online journal, provides an introduction to DNA testing
What is direct-to-consumer genetic testing?
Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.
If a consumer chooses to purchase a genetic test directly, the test kit is mailed to the consumer instead of being ordered through a doctor’s office. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn. Consumers are notified of their results by mail or over the telephone, or the results are posted online. In some cases, a genetic counselor or other healthcare provider is available to explain the results and answer questions. The price for this type of at-home genetic testing ranges from several hundred dollars to more than a thousand dollars.
The growing market for direct-to-consumer genetic testing may promote awareness of genetic diseases, allow consumers to take a more proactive role in their health care, and offer a means for people to learn about their ancestral origins. At-home genetic tests, however, have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Without guidance from a healthcare provider, they may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way.
Genetic testing provides only one piece of information about a person’s health—other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests. More research is needed to fully understand the benefits and limitations of direct-to-consumer genetic testing.
For more information about direct-to-consumer genetic testing:
The American College of Medical Genetics, which is a national association of doctors specializing in genetics, has issued a statement on direct-to-consumer genetic
The American Society of Human Genetics, a professional membership organization for specialists in genetics, has also issued a statement on direct-to-consumer genetic testing in the United
The Federal Trade Commission (FTC) works to protect consumers and promote truth in advertising. The FTC offers a fact sheet for
An issue brief on direct-to-consumer genetic
The Genetic Alliance also provides information about the promotion of genetic testing services directly to
Additional information about direct-to-consumer marketing of genetic
EuroGentest offers a list of publications related to direct-to-consumer genetic testing in
How can consumers be sure a genetic test is valid and useful?
Before undergoing genetic testing, it is important to be sure that the test is valid and useful. A genetic test is valid if it provides an accurate result. Two main measures of accuracy apply to genetic tests: analytical validity and clinical validity. Another measure of the quality of a genetic test is its usefulness, or clinical utility.
All laboratories that perform health-related testing, including genetic testing, are subject to federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA) or even stricter state requirements. CLIA standards cover how tests are performed, the qualifications of laboratory personnel, and quality control and testing procedures for each laboratory. By controlling the quality of laboratory practices, CLIA standards are designed to ensure the analytical validity of genetic tests.
CLIA standards do not address the clinical validity or clinical utility of genetic tests. The Food and Drug Administration (FDA) requires information about clinical validity for some genetic tests. Additionally, the state of New York requires information on clinical validity for all laboratory tests performed for people living in that state. Consumers, health providers, and health insurance companies are often the ones who determine the clinical utility of a genetic test.
It can be difficult to determine the quality of a genetic test sold directly to the public. Some providers of direct-to-consumer genetic tests are not CLIA-certified, so it can be difficult to tell whether their tests are valid. If providers of direct-to-consumer genetic tests offer easy-to-understand information about the scientific basis of their tests, it can help consumers make more informed decisions. It may also be helpful to discuss any concerns with a health professional before ordering a direct-to-consumer genetic test.
For more information about determining the quality of genetic tests:
The Centers for Disease Control and Prevention (CDC) provides an explanation of the factors used to evaluate genetic
A brief overview of the regulation of genetic
The Genetic Alliance offers information about the quality of genetic tests and current public policy
An interactive tutorial about clinical
The U.S. Centers for Medicare and Medicaid Services (CMS) provide an overview of the Clinical Laboratory Improvement Amendments
Additional information about the oversight of genetic testing in the United States is available from a Report of the Secretary’s Advisory Committee on Genetics, Health, and Society
What do the results of genetic tests mean?
The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done.
A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or presymptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.
A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.
In some cases, a negative result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.
For more information about interpreting genetic test results:
The National Cancer Institute fact sheet Genetic Testing for Hereditary Cancer
The Department of Energy, Office of Science offers information about evaluating gene
The National Women’s Health Resource Center offers a list of questions about genetic
What is the cost of genetic testing, and how long does it take to get the results?
The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result. For newborn screening, costs vary by state. Some states cover part of the total cost, but most charge a fee of $15 to $60 per infant.
From the date that a sample is taken, it may take a few weeks to several months to receive the test results. Results for prenatal testing are usually available more quickly because time is an important consideration in making decisions about a pregnancy. The doctor or genetic counselor who orders a particular test can provide specific information about the cost and time frame associated with that test.
For more information about the logistics of genetic testing:
EuroGentest offers a fact sheet about genetic testing
Will health insurance cover the costs of genetic testing?
In many cases, health insurance plans will cover the costs of genetic testing when it is recommended by a person’s doctor. Health insurance providers have different policies about which tests are covered, however. A person interested in submitting the costs of testing may wish to contact his or her insurance company beforehand to ask about coverage.
Some people may choose not to use their insurance to pay for testing because the results of a genetic test can affect a person’s health insurance coverage. Instead, they may opt to pay out-of-pocket for the test. People considering genetic testing may want to find out more about their state’s privacy protection laws before they ask their insurance company to cover the costs. (Refer to What is genetic discrimination? for more information.)
For more information about insurance coverage of genetic testing:
The National Human Genome Research Institute provides information about Coverage and Reimbursement of Genetic
The U.S. Department of Energy Office of Science provides a brief discussion of insurance coverage for genetic
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.
For more information about the benefits of genetic testing:
The National Cancer Institute provides a brief discussion of the benefits of genetic
EuroGentests offers a fact sheet about genetic
Additional information on this topic is available in the fact sheet Gene
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 procedure 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. (Refer to What is genetic discrimination? for additional information.)
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.
For more information about the risks and limitations of genetic testing:
The National Cancer Institute provides a brief discussion of the limitations of genetic testing:
The American College of Medical Genetics and Genomics (ACMG) published a policy statement about the risks associated with incorrect genetic test results or
EuroGentests offers a fact sheet about genetic
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. People who undergo genetic testing may be at risk for genetic discrimination.
The results of a genetic test are normally included in a person’s medical records. When a person applies for life, disability, or health insurance, the insurance company may ask to look at these records before making a decision about coverage. An employer may also have the right to look at an employee’s medical records. As a result, genetic test results could affect a person’s insurance coverage or employment. People making decisions about genetic testing should be aware that when test results are placed in their medical records, the results might not be kept private.
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; however, genetic testing is a fast-growing field and these laws don’t cover every situation.
For more information about privacy and genetic discrimination:
The National Human Genome Research Institute provides a detailed discussion of genetic discrimination and current laws that address this issue:
The Genetic Alliance offers links to resources and policy statements on genetic
Additional information about policy and legislation related to genetic
The Australian Research Council’s Genetic Discrimination
How does genetic testing in a research setting differ from clinical genetic testing?
The main differences between clinical genetic testing and research testing are the purpose of the test and who receives the results. The goals of research testing include finding unknown genes, learning how genes work, developing tests for future clinical use, and advancing our understanding of genetic conditions. The results of testing done as part of a research study are usually not available to patients or their healthcare providers. Clinical testing, on the other hand, is done to find out about an inherited disorder in an individual patient or family. People receive the results of a clinical test and can use them to help them make decisions about medical care or reproductive issues.
It is important for people considering genetic testing to know whether the test is available on a clinical or research basis. Clinical and research testing both involve a process of informed consent in which patients learn about the testing procedure, the risks and benefits of the test, and the potential consequences of testing.
For more information about the differences between clinical and research testing:
The Ohio State University’s Wexner Medical Center describes the difference between clinical and research genetic
The Sudden Arrhythmia Death Syndromes (SADS) Foundation also outlines the major differences between clinical tests and research
Additional information about clinical and research
What is genetic ancestry testing?
Genetic ancestry testing, or genetic genealogy, is a way for people interested in family history (genealogy) to go beyond what they can learn from relatives or from historical documentation. Examination of DNA variations can provide clues about where a person’s ancestors might have come from and about relationships between families. Certain patterns of genetic variation are often shared among people of particular backgrounds. The more closely related two individuals, families, or populations are, the more patterns of variation they typically share.
Three types of genetic ancestry testing are commonly used for genealogy:
Genetic ancestry testing has a number of limitations. Test providers compare individuals’ test results to different databases of previous tests, so ethnicity estimates may not be consistent from one provider to another. Also, because most human populations have migrated many times throughout their history and mixed with nearby groups, ethnicity estimates based on genetic testing may differ from an individual’s expectations. In ethnic groups with a smaller range of genetic variation due to the group’s size and history, most members share many SNPs, and it may be difficult to distinguish people who have a relatively recent common ancestor, such as fourth cousins, from the group as a whole.
Genetic ancestry testing is offered by several companies and organizations. Most companies provide online forums and other services to allow people who have been tested to share and discuss their results with others, which may allow them to discover previously unknown relationships. On a larger scale, combined genetic ancestry test results from many people can be used by scientists to explore the history of populations as they arose, migrated, and mixed with other groups.
For more information about genetic ancestry testing:
The British Broadcasting Company offers an introductory article on genetic
The University of Utah provides video
The International Society of Genetic
The American Society of Human Genetics (ASHG) developed a position paper on ancestry
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