Genetic screening test leads to discovery of a family trait

Patient with family history of cancer learned of genetic link to Lynch syndrome

A mature male Sanford Health patient smiles at an outdoor cafe while wearing a fishing vest and hat.

Jim Streiff is a military veteran who received a MyChart message one day from Sanford Health that notified him of an opportunity to participate in a genetic screening test.

A test offered through Sanford Imagenetics costs $49, a fee that is waived for veterans like Streiff. The test can potentially add insight into how people respond to certain medications, in addition to assessing risk for certain genetic diseases.

Streiff explained the screening to his family and then scheduled the test, which amounted to a blood draw and a conversation with a Sanford geneticist.

“I figured they wanted me to get the test because I was either the descendant of kings or goat thieves,” Streiff joked.

Get started: Genetic testing at Sanford Health

More seriously, he thought about his own health issues after receiving the email. Streiff is diabetic and also deals with low platelet counts in his blood. It would be beneficial, he decided, to participate in the screening because it could give providers more information in prescribing his medications through pharmacogenomics, which is the study of your genes and your drug response.

Though Streiff would eventually discover he did not need to alter his medicines, it is very common for those taking the test to find out their genes are indeed a factor in medication effectiveness.

What the genetic screening found

The decision to get the screening remained a life-altering decision nevertheless.

“I was able to sit down with a geneticist and we discussed what they found,” Streiff said. “They discovered I had Lynch syndrome, which I’d never heard of. It’s a defect in one of the genes that gets passed down from generation to generation.”

Lynch syndrome makes people more susceptible to certain types of cancer. In Streiff’s case, it helped explain some of his family’s health issues. His father had six siblings die of the kinds of cancer where this syndrome could be a possible contributing factor. In addition, he lost a first cousin to cancer.

Streiff was a perfect patient for a genetic test designed to screen or identify potential risk that he might be predisposed to because he was unaware of Lynch syndrome, says Alexander Van Gerrevink, Imagenetics education program specialist. He said most people who take the test do not discover they have an actionable result such as genetic cancer or heart conditions.

How family uses new genetic information

After notifying all his first cousins of his screening results, Streiff went to work on making sure his second cousins were also aware. Some of them had the same trait as well. The information reached relatives, some of them distant relatives, from all over the country.

“It has changed the whole mindset of my family,” Streiff said. “My children are getting certain procedures or tests more often and earlier in life than they would otherwise because they understand there is a greater risk. My grandchildren will do the same when they’re old enough. My cousins are also talking to their geneticists and getting tested to see if this gene runs through their families. It has changed a lot of lives — just doing this one simple test.”

Streiff has absorbed enough of the science behind his screening to be able to explain the basics to others who do not have a medical background and know little about the benefits of genetic testing. He can thank the Imagenetics staff for that.

“They did a great job of explaining it when I met with them,” Streiff said. “My screening results were communicated in a very straightforward way that will make it easy to make future decisions.”

The result is that he can have conversations with friends about how his decision helped him and his family.

“People should not be afraid to participate,” Streiff said. “It’s a very simple process and it can supply you with a tremendous amount of information. The people helping you are very knowledgeable and very caring. It made me think about wishing I’d had this information 10 or 20 years ago. I think some of my aunts and uncles and cousins who are gone would still be here today.”

Learn more

Posted In Cancer, Genetics, Internal Medicine, Veterans

Leave A Reply