Of the numerous methods for estimating penetrance, none are without potential biases, and determining an individual carrier's risk of cancer involves some level of imprecision. ![]() Penetrance for breast cancer in female carriers of BRCA1/BRCA2 pathogenic variants is often quoted by age 50 years and by age 70 years. Usually described by the individual carrier's age and sex. In general, common genetic variants that are associated with cancer susceptibility have a lower penetrance than rare genetic variants. The proportion of individuals carrying a pathogenic variant who will manifest theĭisease is referred to as penetrance. For an increasing number of diseases, DNA-based testing can be used to identify a specific pathogenic variant as the cause of inherited risk and to determine whether family members have inherited the disease-related variant. ![]() Family history may identify people with a modest to moderately increased risk of cancer or may serve as the first step in the identification of an inherited cancer predisposition that confers a very high lifetime risk of cancer. DNA-based information can be gathered, stored, and analyzed at any time during an individual’s life span, from before conception to after death. ![]() Sources of genetic information include biologic samples of DNA, information derived from a person’s family history of disease, findings from physical examinations, and medical records. Genetic information provides a means of identifying people who have an increased risk of cancer. As a consequence, this expanding knowledge base has implications for all aspects of cancer management, including prevention, screening, and treatment. Knowledge of cancer genetics is rapidly improving our understanding of cancer biology, helping to identify at-risk individuals, furthering the ability to characterize malignancies, establishing treatment tailored to the molecular fingerprint of the disease, and leading to the development of new therapeutic modalities. I believe that my platform can inspire professionals and patients who, like me, may be feeling alone and ill-equipped to move forward, whether in spearheading research or navigating their pregnancy loss and fertility journey.The etiology of cancer is multifactorial, with genetic, environmental, medical, and lifestyle factors interacting to produce a given malignancy. I will apply new-found critical analysis skills to discuss confounding topics and new literature related to ART and RPL on my miscarriage and fertility YouTube channel. I plan to use my genetic counseling YouTube channel to demonstrate my research progress in real-time, to share what I learn, and to provide virtual mentorship and inspiration to future and current genetic counselors on the topic of research. I believe my social media advocacy work and content creation allows for the broadest impact. I hope to engage my team in research opportunities, utilize our data to publish literature, collaborate with other healthcare providers, and confidently present research at future conferences to promote awareness and catalyze positive change within this under-researched specialty, and also to improve my own team’s workflow at Seattle Sperm Bank. As the lead genetic counselor at Seattle Sperm Bank, I designed the genetic counseling service delivery model and set all GC-related protocols but have not yet had the opportunity to research how to most effectively perform these roles in a way that is both achievable for my team and most beneficial to sperm donors and recipients. Specifically, for academic research, I would like to investigate the role of genetic counselors in fertility clinics and gamete banks as well as genetic counseling outcomes in the ART setting. I hope to utilize skills from the GC-FIRST Program in two main areas: academic research and advocacy through content creation. How do you see this fellowship fitting into your current and/or anticipated career plan? What career trajectory would you like to have once you’ve completed the fellowship? Please comment specifically on your previous leadership experiences and how that relates to the goals of the fellowship. How have you balanced competing priorities in your current work and how do you anticipate this playing out during the fellowship? Just as important as collaboration is the ability to balance priorities and monitor progress toward multiple goals. ![]() How do you think this will apply to research endeavors? Describe a time you worked on a collaborative project and the ways you managed that collaboration to lead to a successful product. Please describe your strengths and growth areas when it comes to communication in general and specifically in relation to research.Ī central feature of successful research is the ability to work collaboratively. Well designed research is vitally important to advancing the practice of genetic counseling, but communication of research to a variety of audiences is what determines the long-term impact.
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