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Know your genetic history

via Flickr
Researcher holding a component of a test which helps identify metastatic colorectal cancer patients with a mutation in a specific gene to help guide treatment decisions.

One of the many thoughts that arise when a genetic condition is diagnosed is if there’s a possibility that it would be passed on to children.

This week on “Take Care,” genetic counselor Vickie Venne talks about the importance of knowing your family history and how genetic counseling can help families. Venne, the former president of the National Society of Genetic Counselors, is author of “The Genome Book: A Must-Have Guide to Your DNA for Maximum Health” and was the first licensed genetic counselor in the United States.

Genetic testing is available for more than 2,000 rare and common conditions.

“A gene, at its very basic, is the basic information that codes for how any species is built,” Venne said. “There are probably 3,000 of them in the human being that code for everything from your eye color to your hair color to probably how tall you’re going to be.”

Conditions like sickle cell anemia, cystic fibrosis and Tay-Sachs all involve altered genes.

Genetic testing is the process of finding a code within the gene.  Genetic testing can be done in utero and on people of all ages.

“Before you even start thinking about getting pregnant, you can meet with a counselor to review a family history especially if there are some conditions that run in the family or cause some concern,” Venne said.

According to Venne, three to five percent of babies are born with congenital problems, meaning they are present are birth.

“There are children that are born with physical features that are different from normal whether it’s a heart condition or arms or legs that might be shortened,” she said.

However, some conditions don’t appear in children until they are teenagers.

“There’s developmental delay – children who seem to be normal starting out but then end up with problems,” Venne said. “By then, you do have the genetic code that is going to define who and what you are.

At that point, a team of genetic counselors are, usually, assembled to help diagnose the patient and help the family deal with the diagnosis.

According to Venne, 10 percent of heart problems, cancers and Alzheimer’s are due to a genetic predisposition. 

“We actually help families bank the blood of an individual who was terminal because then that genetic information may help the rest of the family,” Venne said. “So we go from before birth all the way to the grave.”

And, Venne said, knowing if a condition was genetic helps an individual better understand why a disease or condition happened.