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The Upsides and Downsides of Cancer Genetic Testing - Curetoday.com

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Twelve years ago, I underwent genetic counseling and genetic testing for Lynch syndrome, a hereditary cancer predisposition syndrome that significantly increases your risk for developing early-onset various cancers. Genetic testing can be likened to opening Pandora's jar, unveiling a treasure trove of invaluable information about our DNA.


Like the Greek myth, many wondrous and potentially unsettling revelations emerge once the lid is turned and removed from the jar. On the one hand, genetic testing promises unlocking insights into our ancestry, health predispositions, and even personalized treatment options. It empowered me to make an informed decision about my well-being. However, this newfound knowledge also carried a significant weight of responsibility and ethical dilemmas. The revelations of inherited diseases or genetic susceptibilities brought me fear and anxiety and challenged my identity and destiny.


Moreover, disseminating genetic data raised concerns about my privacy, discrimination, and societal implications. Like Pandora's jar, genetic testing compels us to grapple with genetic inheritance's complexities and potential burdens in hereditary cancer. I initially wanted to undergo genetic testing because it could provide information that was helpful and actionable — I could do something to alter my genetic destiny.


My brother's early-onset colon cancer diagnosis was the catalyst for him to undergo genetic testing — not only unveiled the presence of Lynch syndrome in his genes but also shed light on its potential impact on my health since Lynch syndrome is autosomal dominant and I had a 50/50 chance of having the mutation, too. This knowledge empowered me to take proactive steps to manage my health effectively. While genetic testing gave me some valuable insights, it also brought about much emotional turmoil.


When I received my results indicating the presence of Lynch syndrome, a wave of fear and uncertainty washed over me. I was confronted with my mortality and feared the possibility of leaving my young son motherless, but moreover, I feared that I may have unknowingly passed this on to my son. It was overwhelming to confront the increased risk of developing certain types of cancer, especially as a mother. Coping with the emotional burden required time, support from loved ones and professional guidance. Genetic testing has revolutionized the landscape of cancer prevention and surveillance. Armed with the knowledge of Lynch syndrome, I could engage in personalized prevention strategies. Regular screenings, prophylactic surgeries, and specific preventive measures have become integral to my healthcare routine. By being proactive, I can detect cancer at an earlier, more treatable stage or prevent its development altogether. An aspect that often goes unnoticed and rarely discussed is the financial impact of genetic testing. While its benefits are undeniable, the cost of genetic testing can be prohibitive for many individuals.


Consulting with a certified genetic counselor before genetic testing was beneficial because they helped ensure that my insurance covered the cost of the test. Unfortunately, the annual surveillance required to maintain your health is costly — knowing you have a hereditary cancer syndrome and being vigilant with your screenings is not cheap. Seeing a certified genetic counselor was very helpful to me in various other ways. Not only did they ensure that my health insurance would cover the genetic test, but they also provided me with all resources available to navigate the new Lynch labyrinth I found myself in.

Living with a hereditary cancer syndrome inevitably brings uncertainty. Despite taking preventative measures, the knowledge of increased risk frequently lingers in my mind. This uncertainty led to heightened anxiety and psychological distress for me. Therapy has helped over the years, but so has to be vigilant with my scope, and taking a high dose of aspirin for the past decade has been helping in keeping colorectal polyps away. With time, the psychological stress has lessened.


My most significant concern at this point is my son and whether or not he has it, as he has yet to undergo genetic testing. Lynch syndrome inspired me to write, and I had no idea I would eventually become an advocate. I just wanted to write about the hellacious cascading effects of having my ovaries removed at a young age. This newfound actionable knowledge that would possibly save my life was killing my vibe. I removed perfectly healthy ovaries to reduce my risk of developing ovarian cancer, yet, there I was, sans ovaries, nauseated with an unrelenting desire to peel my skin off because I no longer recognized my body without those precious little hormones. I was beyond furious — everyone around me, from my genetic counselor to my doctors, grotesquely minimized the implications of having my ovaries removed. I am now weary of taking advice from others telling me to do things they have never done or experienced themselves.


Blogging (the blog is no longer live) about my daily life after the oophorectomy was my catharsis, and due to the lack of info about the emotional aspects of Lynch syndrome at that time, I felt compelled to raise awareness and promote understanding of hereditary cancer syndromes. I encourage others to seek certified genetic counseling and testing, engage in proactive healthcare practices, and create a supportive community.


My personal experience with genetic testing for Lynch syndrome has been a journey filled with both upsides and downsides. The empowering knowledge it brings and the ability to engage in personalized prevention and surveillance are invaluable advantages. However, emotional turmoil, financial considerations, unwavering uncertainty, and psychological and physical impacts are all poignant reminders of the complexities involved. I am reminded of my mortality every damn day. I recommend that people considering genetic testing speak with a certified genetic counselor, weigh these pros and cons carefully, seek support, and make informed decisions aligned with their values and circumstances.

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