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It's Scientific Sunday and Genetics 101 with Ryan Rodarmer, Director of Genetic Education

Today is Scientific Sunday at Aortic Hope and we are wrapping up our Genetics 101 Blog Series with Ryan Rodarmer (until the fall).

Hello again! This is Ryan, the Director of Genetic Education for Aortic Hope. As part of our ongoing series on aortic disease and genetics, today we’ll explore what to expect during a genetic counseling appointment, especially if you’re a survivor of aortic dissection.

Please remember that I’m always available for your questions at Let’s go on this journey together, and remember to always #thinkaortathinkfamily!

𝗚𝗲𝘁𝘁𝗶𝗻𝗴 𝗥𝗲𝗮𝗱𝘆 𝗳𝗼𝗿 𝗬𝗼𝘂𝗿 𝗔𝗽𝗽𝗼𝗶𝗻𝘁𝗺𝗲𝗻𝘁

Before you set foot in the genetic clinic, some groundwork will need to be laid. This preparation can come in the form of phone calls or paperwork that provides the clinic with necessary information about your medical and family history.

Here are some things to consider:

• 𝗠𝗲𝗱𝗶𝗰𝗮𝗹 𝗵𝗶𝘀𝘁𝗼𝗿𝘆: Be ready to talk about your own health history, particularly details related to your aortic dissection and any features of a larger genetic syndrome you may have.

• 𝗙𝗮𝗺𝗶𝗹𝘆 𝗵𝗶𝘀𝘁𝗼𝗿𝘆: If you believe some of your relatives may have had a connective tissue condition, prepare a list of their symptoms. This can be extremely helpful in identifying patterns that may indicate a genetic predisposition. Photos could be beneficial if you suspect they had features of Marfan syndrome or a related condition.

𝗔𝘁 𝘁𝗵𝗲 𝗚𝗲𝗻𝗲𝘁𝗶𝗰 𝗖𝗹𝗶𝗻𝗶𝗰: 𝗪𝗵𝗮𝘁 𝘁𝗼 𝗘𝘅𝗽𝗲𝗰𝘁

When you arrive at the genetic clinic, a medical assistant may take your vitals, such as height, weight, and blood pressure (although this varies from clinic to clinic).

𝗠𝗲𝗲𝘁𝗶𝗻𝗴 𝘁𝗵𝗲 𝗚𝗲𝗻𝗲𝘁𝗶𝗰 𝗖𝗼𝘂𝗻𝘀𝗲𝗹𝗼𝗿

After vitals and a basic review of medications and other typical doctor appointment stuff (this varies by clinic!), you will usually meet with a genetic counselor. They play a vital role in the genetic counseling appointment, tasked with:

• Gathering your medical history and family history.

• Providing education about potential genetic risks, including if a larger genetic syndrome or hereditary aortic disease is suspected.

• Explaining inheritance patterns and what they could mean for you and your family.

• Discussing genetic testing, including its costs, potential insurance coverage, and genetic discrimination laws.

𝗣𝗵𝘆𝘀𝗶𝗰𝗮𝗹 𝗘𝘅𝗮𝗺𝗶𝗻𝗮𝘁𝗶𝗼𝗻 𝗯𝘆 𝗮 𝗣𝗵𝘆𝘀𝗶𝗰𝗶𝗮𝗻

A physician, usually a geneticist, will then perform a physical examination. They’re looking for features that could suggest known connective tissue conditions like Marfan syndrome, Loeys-Dietz, and Vascular Ehlers-Danlos (VEDS). If one of these conditions is suspected, they may provide additional information and discuss the implications this could have on the need for genetic testing.

Remember, undergoing genetic testing is a personal decision. It is the job of the genetic counselor to ensure you’re making an informed decision and you are not obligated to proceed with genetic testing.

𝗔𝗳𝘁𝗲𝗿 𝘁𝗵𝗲 𝗔𝗽𝗽𝗼𝗶𝗻𝘁𝗺𝗲𝗻𝘁: 𝗥𝗲𝘀𝘂𝗹𝘁𝘀 𝗮𝗻𝗱 𝗡𝗲𝘅𝘁 𝗦𝘁𝗲𝗽𝘀

Typically, it takes about two weeks for genetic test results to come back. Once they’re in, someone from the office—either the physician or genetic counselor—will call with your results.

Based on these results, several things might happen:

• They may recommend a follow-up appointment to discuss the results in more depth and discuss next steps.

• Additional referrals, genetic testing, or imaging might be suggested.

• If a genetic syndrome is identified, annual follow-up visits might be recommended.

• If relevant, they may advise evaluations or genetic testing for other family members.

𝗪𝗿𝗮𝗽𝗽𝗶𝗻𝗴 𝗨𝗽

In conclusion, the genetic counseling process is thorough and designed to ensure you’re informed every step of the way. Please remember that undergoing genetic testing is a personal decision. Your genetic counselor is there to make sure you’re making an informed decision, not to pressure you into testing.

This process might seem overwhelming, but it is a crucial step towards understanding your condition better and managing it more effectively. It is also invaluable in understanding and managing potential genetic risks within your family. As always, remember to #thinkaortathinkfamily!

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