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An increasing number of companies offer at-home genetic testing, also known as direct-to-consumer DTC genetic testing. People collect a saliva sample or a mouth swab themselves and submit the sample through the mail. They learn about the test results on a secure website, by mail, or over the phone.

The genetic testing for cancer risk that is typically ordered by a doctor involves testing for inherited genetic variants that are associated with a high to moderate increased risk of cancer and are responsible for inherited cancer susceptibility syndromes.

Genetic Testing: Guide for Health Pros

By contrast, DTC genetic testing for cancer risk often involves the analysis of common inherited genetic variants that, individually, are generally associated with only a minor increase in risk. Genetic tests based on these common variants have not yet been found to help patients and their care providers make health care decisions and, therefore, they are not a part of recommended clinical practice. Even when people have DTC genetic tests for gene variants that are known to be associated with inherited cancer susceptibility syndromes, there are potential risks and drawbacks to the use of DTC testing.

However, this testing looks only for three specific variants out of the thousands that have been identified. Therefore, someone could have a negative result with this kind of test but still have a harmful BRCA1 or BRCA2 gene variant that was just not identified by that test.

In particular, without guidance about the most appropriate genetic testing to do and interpretation of the genetic test results from a knowledgeable health care provider, people may experience unneeded anxiety or false reassurance, or they may make important decisions about medical treatment or care based on incomplete information. DTC genetic testing also does not ensure the privacy of the test results. In addition, companies that provide DTC testing may not be subject to current state and federal privacy laws and regulations. It is generally recommended that people considering DTC genetic testing make sure that they have chosen a reputable company i.

The U. As part of its mission, FTC investigates complaints about false or misleading health claims in advertisements. There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.

Laboratories that are certified under CLIA are required to meet federal standards for quality, accuracy, and reliability of tests. All laboratories that do genetic testing and share results must be CLIA certified. However, CLIA certification only indicates that appropriate laboratory quality control standards are being followed; it does not guarantee that a genetic test being done by a laboratory is medically useful or properly interpreted.


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Research is ongoing to find better ways to detect, treat, and prevent cancer in people who carry genetic variants that increase the risk of certain cancers. There is also much work being done to increase the accuracy and consistency of classifying the genetic variants detected by testing. The goal of another avenue of research is to provide doctors and patients with better information about the cancer risks associated with specific genetic variants, particularly variants of uncertain significance.

For example, one research approach, called saturation genome editing, used CRISPR-Cas9 gene editing to create different genetic variants throughout a region of the BRCA1 gene that is important for its function as a tumor suppressor. The gene editing was done in special cells that cannot survive without a functioning BRCA1 protein.

Collaborative efforts that bring together genomic and clinical data, such as the BRCA Exchange web portal, are providing a comprehensive resource that people can refer to when they get the results of a genetic test and want to know the clinical significance of particular gene variant.

ClinVar is a public archive to support the accumulation of evidence for the clinical significance of genetic variants. This technique compares the genomes from many different people to find genetic markers associated with particular observable characteristics or risk of disease. The goal is to understand how genes contribute to the disease and to use that understanding to help develop better prevention and treatment strategies.

Additional NCI research is focused on improving genetic counseling methods and outcomes, studying the risks and benefits of at-home genetic testing, and evaluating the effects of advertising of these tests on patients, providers, and the health care system. Researchers are also working to improve the laboratory methods available for genetic testing. Menu Contact Dictionary Search. Understanding Cancer. What Is Cancer? Cancer Statistics.

To Test or Not To Test: A Guide to Genetic Screening and Risk

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