Columbia University Medical Center

Introduction to Genetics

We discuss some of the key terms used to explain genetics, including "variants" and "mutations". We briefly discuss links between genetic mutations and disease risk, including the finding that we are all born with 20 or so new genetic variants. Although most have no effect on our health, some can increase risk of a genetic condition.

Introduction to Genetic Testing

This video reviews some of the most common types of genetic tests. These include chromosome analysis (which has the least amount of detail), microarray analysis (which has more detail), and gene sequencing (which provides the most detail on specific genes).

Introduction to Exome Sequencing

Exome sequencing is a type of genetic test that allows us to look at almost all of our genes at one time. It looks at exons, the part of our DNA most likely to have genetic mutations linked to disease. Exome sequencing is increasingly used to find the cause of a genetic disease, particularly when the diagnosis is unclear or complex.

Possible Exome Sequencing Test Results

There are three main types of exome sequencing results - positive, negative, and uncertain. A positive result means a genetic mutation was found that provides information about the cause of a disease. A negative result means that no relevant variants were found. An uncertain result that one or more genetic variants were found, but how they affect a disease is unclear (called variants of uncertain significance).

Introduction to Secondary Findings

Secondary Findings are sometimes identified during genetic testing. They are called "secondary" findings because they may be unrelated to why genetic testing was originally done, but can still be important your health. This might be similar to when you take your car for an oil change, but the mechanic finds something else of concern, such as faulty brakes. Secondary findings include risk of developing certain types of cancer, heart problems, or whether some medications can have serious side-effects.

Pros and Cons of Secondary Findings

Pros of choosing to learn secondary findings include learning about risk for a genetic condition, which can help manage your health. You can also share results with family members, who can also take steps to improve their heath. Cons can include increased worry, or guilt and discomfort sharing results with your family. You may also worry that your genetic results may affect your health insurance or job. Although a federal law protects against this type of discrimination, it does not protect new life insurance or disability insurance.

Decisions about Secondary Findings

You might want to think about what types of results you do/not want to know about, and how they affect how you care about yourself. You may want to talk to your family before making a decision, as results will affect them too. You might also want to genetic counselor or doctor, who can offer advice and guideance.

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