Genetic Risk: Your Genes “In Context”

Whenever there’s a flurry in the news about genetic testing, we get calls from people who just want to know: What can a genetic test tell you?

There are different types of genetic tests. Genetic tests that screen for “risk” may not be commonly known, but for certain people at certain times, they can be very useful. Knowing whether you have a genetic risk can help you make medical and life decisions — such as planning a family, selecting a form of birth control or starting hormone replacement therapy.

For example:

Risk for Blood Clots: Studies estimate that 60,000 to 200,000 people die each year from blood clots, including DVTs and PEs. At the high end, this condition kills more people than breast cancer, car accidents and AIDS combined. Most people don’t know that 1 in 20 Americans carry the Factor V Leiden gene, which — when combined with medical choices (hormone replacement therapy, birth control pills) or lifestyle factors (obesity, smoking) increases their risk for dangerous blood clots. If you have a genetic propensity for blood clots, you can take action, make different decisions, reduce your risk.

Risk for Iron Overload. About 35 million people in the U.S. — as many as 1 in 4 people of Irish descent, and 1 in 10 Caucasians — are at risk for a hereditary iron overload disorder that causes a wide variety of symptoms, inculding chronic fatigue, weakness, joint pain and arthritis. If undetected, iron overload can lead to serious problems, including diabetes, liver and heart disease. But with early detection, effective treatment can stop the progression of iron overload and even reverse some of the symptoms.

These are just two examples of how knowing about your genes — in a particular context — can help you make better decisions and live a longer, healthier life.

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3 Responses to “Genetic Risk: Your Genes “In Context””

  1. Chris Says:

    The uncertainty of risk prediction is something we struggle with constantly in epidemiology. In many ways, genetic risk factors are no different than lifestyle ones. In fact, risk as conferred by lifestyle can be made clearer with the knowledge of a person’s genetic make-up.

  2. Analicia Minguela Says:

    I have a son age 37 who 3yrs ago was hospitalized with a large DVt in his thigh, nine months later he developed Angina and had a blood clot in his heart, 2 stents were placed. On May 9, 2007, he suffered a heart attack and additional 2 more arteries were opened with Angioplasty and 2 more stents. He has Factor V thrombophilia. He has no insurance and we are deeply concerned with his high risk for serious
    outcome. HELP!!!!

  3. Lisa Lee Says:

    Analicia, I am sorry to hear about all your son (and your family) has gone through. It is important that he receive information and treatment to help prevent future blod clots, since he is at increased risk for more clots due to Factor V and his history of clots. You can find info on preventing clots for people with Factor V at the following places:

    NATT
    DNA Direct

    Since your son does not have insurance, if/when he is able to see a doctor or specialist, it’s important to take notes and gather as much information from the doctor as possible on what he can do to prevent future blood clots. Having someone at his appointment, such as another family member or friend, to help him ask questions and gather this information can be helpful

    Also, keep in mind that Factor V is inherited, so other family members are at increased risk as well. It is important that they consider their risks and take steps to modify their lifestyle to reduce their risk.

    Good luck to you and your son!
    Lisa

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