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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 excited to continue our Genetics 101 Series with Ryan Rodarmer.


Over the next couple of weeks, Ryan will discuss a variety of topics related to genetics. Use these discussions as a way to have a conversation with your physician.



Introduction

In the weeks leading up to now, we have chatted about how aortic disease can be inherited, from multifactorial disease (think multiple genes and environmental factors, lower risks, later age, often abdominal aorta involvement), to single gene causes that a part of larger syndrome (like Marfan, Loeys-Dietz, and vascular Ehlers-Danlos syndromes) and those that are confined to the thoracic aorta (non-syndromic hereditary thoracic aortic disease). Let’s chat about an important topic that ties them all together – genetic testing! As always, don't hesitate to email me at ryan@myaorticjourney.com if you have any questions. And remember our guiding mantra: #thinkaortathinkfamily!


The Benefits of Genetic Testing for Aortic Disease: What Survivors, Families, and Caregivers Should Know

If you or someone you love has survived an aortic dissection, you likely understand the importance of early detection and treatment for aortic disease. However, did you know that genetic testing can offer significant benefits for the management and prevention of this condition? In this post, we'll explore the benefits of genetic testing for aortic disease and what survivors, families, and caregivers should know.


What is aortic disease?

I understand that some may come straight here without reading the blog posts I’ve written before, so VERY briefly, what is aortic disease? The aorta is the largest blood vessel in the body, and it carries oxygen-rich blood from the heart to the rest of the body. Aortic disease refers to a variety of conditions that affect the aorta, including aortic aneurysms and aortic dissections.


Aortic aneurysms occur when the walls of the aorta weaken and bulge outward, putting the vessel at risk of rupture. Aortic dissections occur when the inner layer of the aorta tears, allowing blood to flow between the layers and potentially causing the vessel to rupture.


Aortic disease can have severe and life-threatening complications if left untreated, making early detection and intervention critical – and this is where genetic testing may come into play.


The benefits of genetic testing for aortic disease

Genetic testing can provide several benefits for individuals with aortic disease and their families, including:

-Identifying the underlying genetic mutation

In some cases, aortic disease can be caused by a specific genetic mutation. Knowing the specific genetic cause of the condition can help determine the appropriate timing for aortic repair. Certain gene mutations are related to higher risks of dissection at smaller aneurysm sizes, so the surgeon may decide to pursue preventive surgery earlier.

-Surveillance for multisystem complications

Discovering a specific genetic cause can also facilitate monitoring for complications that affect multiple organ systems. This can include screening for related conditions that may not have presented symptoms yet. This would be the case if someone were found to carry a genetic mutation related to one of the syndromes we have already discussed.

-Guiding clinical management

Genetic testing can be informative and useful for managing various inherited cardiovascular diseases, including thoracic aortic aneurysms and dissections. Understanding the genetic cause of aortic disease can help guide clinical management and treatment options beyond preventive surgery (which we have already mentioned). It could mean a different choice of medication, it could mean eligibility for a specific clinical trial, it could mean helping in the development of gene-specific personalized therapies!

-Screening family members

In many cases, aortic disease can run in families. If the gene responsible is found, genetic testing can help identify at-risk family members, enabling early detection and intervention! Those that have inherited the genetic risk factor (in other words, the genetic mutation responsible for aortic disease in the family) - we would know are at increased risk and should undergo the appropriate surveillance/imaging studies to monitor their aorta. They may also be advised to take medication to potentially lower risks. Those that have not inherited the familial genetic risk would be at general population risk only, despite their family history! We would still want them to lead a heart-healthy lifestyle, of course, because everyone is at risk for aortic disease; however, we would know their risks are no higher than anyone else’s, despite the genetic disease in their family.

Remember, early detection and intervention can potentially prevent life-threatening complications and save lives.

-Relief from uncertainty

Genetic testing results can provide a sense of relief for patients, allowing them to make informed decisions about managing their healthcare. It can offer a clearer understanding of the cause of the condition, reducing the uncertainty and fear that often accompanies aortic disease.


How to pursue genetic testing

If you or a loved one has a history of aortic disease, it may be worth considering genetic testing. Of note, in general, we would want to start by performing genetic testing in a family member who has an aneurysm or has suffered aortic dissection – if there is a gene that our testing can find, that family member is obviously likely to carry it. Testing an unaffected family member first is a poor approach and should only be considered if there isn’t a living affected family member to test. This is because a normal gene test in an unaffected family member doesn’t rule out a genetic risk to that person. There are many families with hereditary aortic disease in which we cannot find the gene responsible – so this is why there are limitations to starting with testing in an unaffected family member.

Your healthcare provider can refer you to a genetic counselor or genetic testing facility. It's important to note that genetic testing is not appropriate for everyone and may not always be covered by insurance. We will chat about cost and insurance coverage next time. However, for those who are appropriate candidates for genetic testing, the potential benefits may outweigh the cost and effort involved. I’ll add, and I’m getting ahead of myself a little here, but costs of genetic testing have come way down over the last 5-10 years. It no longer costs thousands of dollars, and most can afford it. So, cost and insurance will be covered soon, as will genetic discrimination – both of which have acted as barriers to testing for many people and are important things to consider before testing – so I will tackle those subjects very soon.


Conclusion

In summary, genetic testing can offer significant benefits for the management and prevention of aortic disease. By identifying the underlying genetic cause of the condition, facilitating multisystem monitoring, guiding clinical management, and screening family members, genetic testing can potentially prevent life-threatening complications and save lives. Additionally, genetic testing can offer relief from the uncertainty and fear that often accompanies aortic disease. If you or a loved one has a history of aortic disease, talk to your healthcare provider about whether genetic testing may be appropriate for you. Together, you can make informed decisions about managing your health and reducing your risk of complications.


If you have any questions or concerns, please feel free to reach out to me at ryan@myaorticjourney.com. Let's continue learning and supporting one another on this journey with the help of Aortic Hope. Remember, #thinkaortathinkfamily!


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