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FAQ About Genetic Testing –

Frequently Asked Questions About Genetic Testing What is genetic testing?

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

There are many different types of genetic tests. Genetic tests can help to:

Genetic test results can be hard to understand, however specialists like geneticists and genetic counselors can help explain what results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing.

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Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.

Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person's likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

Carrier testing is used to find people who "carry" a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

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FAQ About Genetic Testing -

Genetic Testing – Genetics Home Reference

Please choose from the following list of questions for information about testing to identify changes in a persons genes, chromosomes, or proteins.

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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 persons 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:

Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

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.

MedlinePlus offers a list of links to information about genetic testing.

The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic Testing. Additional information about genetic testing legislation, policy, and oversight is available from the Institute.

The National Institutes of Health fact sheet Genetic Testing: What It Means for Your Health and for Your Familys Health provides a brief overview for people considering genetic testing.

Educational resources related to genetic testing are available from GeneEd.

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Genetic Testing - Genetics Home Reference

Genetic Testing Fact Sheet – National Cancer Institute

What is genetic testing?

Genetic testing looks for specific inherited changes (mutations) in a persons chromosomes, genes, or proteins. Genetic mutations can have harmful, beneficial, neutral (no effect), or uncertain effects on health. Mutations that are harmful may increase a persons chance, or risk, of developing a disease such as cancer. Overall, inherited mutations are thought to play a role in about 5 to 10 percent of all cancers.

Cancer can sometimes appear to run in families even if it is not caused by an inherited mutation. For example, a shared environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members. However, certain patternssuch as the types of cancer that develop, other non-cancer conditions that are seen, and the ages at which cancer typically developsmay suggest the presence of a hereditary cancer syndrome.

The genetic mutations that cause many of the known hereditary cancer syndromes have been identified, and genetic testing can confirm whether a condition is, indeed, the result of an inherited syndrome. Genetic testing is also done to determine whether family members without obvious illness have inherited the same mutation as a family member who is known to carry a cancer-associated mutation.

Inherited genetic mutations can increase a persons risk of developing cancer through a variety of mechanisms, depending on the function of the gene. Mutations in genes that control cell growth and the repair of damaged DNA are particularly likely to be associated with increased cancer risk.

Genetic testing of tumor samples can also be performed, but this Fact Sheet does not cover such testing.

Does someone who inherits a cancer-predisposing mutation always get cancer?

No. Even if a cancer-predisposing mutation is present in a family, it does not necessarily mean that everyone who inherits the mutation will develop cancer. Several factors influence the outcome in a given person with the mutation.

One factor is the pattern of inheritance of the cancer syndrome. To understand how hereditary cancer syndromes may be inherited, it is helpful to keep in mind that every person has two copies of most genes, with one copy inherited from each parent. Most mutations involved in hereditary cancer syndromes are inherited in one of two main patterns: autosomal dominant and autosomal recessive.

With autosomal dominant inheritance, a single altered copy of the gene is enough to increase a persons chances of developing cancer. In this case, the parent from whom the mutation was inherited may also show the effects of the gene mutation. The parent may also be referred to as a carrier.

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Genetic Testing Fact Sheet - National Cancer Institute

BowelGene – genetic testing – Video

BowelGene - genetic testing
BowelHealth UK offers a state of the art bowel cancer screening service to men and women over the age of 45. The new generation technology involved in BowelCheck is currently not available...

By: BowelHealth UK

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BowelGene - genetic testing - Video

Genetic Testing – One of the Best Things to Happen to Me – littlemamauk – Video

Genetic Testing - One of the Best Things to Happen to Me - littlemamauk
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By: Little Mama UK

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Genetic Testing - One of the Best Things to Happen to Me - littlemamauk - Video

Genetic Testing – Video

Genetic Testing

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Genetic Testing - Video

Prostate Cancer Genetic testing – Video

Prostate Cancer Genetic testing
ProstateHealth UK offers a state of the art prostate cancer screening service to men over the age of 40, currently not available on the NHS. Long term survival rates from prostate cancer are...

By: ProstateHealth UK

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Prostate Cancer Genetic testing - Video

Genetic testing technologies – Video

Genetic testing technologies
Howard Levy, MD, PhD discusses approaches to assessing genetic tests, including consideration of clinical utility, decision-making about selecting the best test for a patient, and the role...

By: The Jackson Laboratory

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Genetic testing technologies - Video

A New Price Tag for Breast Cancer Genetic Testing – Video

A New Price Tag for Breast Cancer Genetic Testing A $4000 price tag might seem steep for genomic testing for breast or ovarian cancer....

By: dailyRx

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A New Price Tag for Breast Cancer Genetic Testing - Video