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Decoding your risk for heart disease: Geneticists can now screen for defects

Decoding your risk for heart disease: Geneticists can now screen for defects

Source: Cleveland Clinic

Pinpointing genetic causes for heart disease is a complex and dynamic process that changes rapidly as new discoveries are made. But there are some simple things you can do to get come idea about your risk for certain heart disorders.

Family history

While the genetics of many common cardiovascular disorders are unknown, family history can often be used to help determine cardiovascular health risks. In some cases, the genetics might be known and in that case the family has the option to be screened for the presence of an abnormal gene.

“A primary care physician can help collect your family history and determine whether or not additional evaluations, like a referral for genetic counseling, are necessary,” said clinical geneticist Rocio Moran, M.D. “In some cases, genetic testing might be helpful.”

Deciding whether to test a child

It’s not always necessary to test children at an early age, even when screening has shown a potential risk for a family to have a condition. Some genetic disorders don’t have symptoms until adulthood, and knowing whether a child has the disorder would not alter medical management.

Parents work with geneticists and genetic counselors to make this personal choice about whether to test a child; often times, parents wait until children are old enough to decide for themselves if they want the genetic information.

Factors to look at when deciding to test

Family members, genetic counselors and physicians should jointly consider the advantages and possible disadvantages of genetic testing. Among many factors to consider are:

1. The disease in question

2. The impact on the family

3. The impact on a child

4. Current and future screening and treatment

Using genetics to identify disease

If you decide to participate in genetic testing, begin with the person who has the condition. If a gene that causes the disease is identified, additional counseling can help the family decide which members would benefit from this information.

“Utilizing genetics to identify the disease makes it much easier to know who needs additional medical screening or treatment and who can return to population-based screening and treatment,” says Dr. Moran.

Many different tools can be used to help geneticists and genetic counselors identify the genetic cause of a particular disorder in a family, including:

1. Understanding the natural history of the symptoms in question.

2. Reviewing the family history to understand how the disorder might be inherited and identify family members who might benefit from testing or screening.

3. Recognizing any other medical problems or symptoms that might provide clues to the diagnosis.

In a patient such as Porter Lyons, the fact that he showed symptoms of cardiomyopathy at an early age was a clue that the disorder likely had genetic cause. As a result, he underwent genetic testing to help provide his physicians and his family with additional information on how to personalize his treatment.

Getting access to the right tests

A physician, geneticist or genetic counselor can order many genetic tests through a regular lab. There are times, however, when despite a strong suspicion of a genetic disorder, tests come back normal. This is when physicians like Dr. Moran collaborate with researchers from around the world to give families access to additional, advanced testing.

If you have concerns about the medical conditions that run in your family, talk to your primary care physician. If a family member has a positive gene for a medical condition, ask your doctor if you should see a specialist to determine if genetic testing is necessary.

(WhatDoctorsKnow is a magazine devoted to up-to-the minute information on health issues from physicians, major hospitals and clinics, universities and health care agencies across the U.S. Online at


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