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Medical Genetics Commons

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Full-Text Articles in Medical Genetics

Managing Variant Discrepancy In Hereditary Cancer: Clinical Practice, Barriers, And Desired Resources, Ellen Zirkelbach May 2017

Managing Variant Discrepancy In Hereditary Cancer: Clinical Practice, Barriers, And Desired Resources, Ellen Zirkelbach

Dissertations & Theses (Open Access)

Variants are changes in the DNA whose phenotypic effects may or may not be definitively understood. Because variant interpretation is a complex process, sources sometimes disagree on the classification of a variant, which is called a variant discrepancy. This study aimed to determine the practice of genetic counselors regarding variant discrepancies and to identify the barriers to counseling a variant discrepancy in hereditary cancer genetic testing. This investigation was unique because it was the first to address variant discrepancies from a clinical point of view. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. …


Is Gene Therapy A Viable Option For Cancer Treatment?, Aliza Applebaum Jan 2017

Is Gene Therapy A Viable Option For Cancer Treatment?, Aliza Applebaum

The Science Journal of the Lander College of Arts and Sciences

The use of gene therapy as a medical treatment option was first introduced to the world in 1990, when a four-year-old girl became its first patient. Since then gene therapy has met great success but also severe drawback. Incidences with severely negative outcomes on patients gave gene therapy a bad name and many began skeptical towards its use, but the constant work and progress on the safety and effectiveness of gene therapy is making it a more viable route of treatment. This paper focuses on gene therapy as a form of cancer treatment. Viral insertion of the modified genetic material …