The volume of genomic testing is expected to increase given the large federal and commercial investment in genomic technologies designed to enhance personalized medicine. Translational research that evaluates the implementation, dissemination and “real world” outcomes of existing and new genomic applications is needed to guide the rational clinical integration of genomic advances to ultimately reduce the burden of cancer and improve human health. As a medical oncologist with specialized training in clinical cancer genetics, cancer prevention and medical ethics, I have been developing and leading translational genetic research focused on the ethics and clinical implementation of genetic medicine to promote the health of individuals and families since 2003. This work involves research and academic activities focused on: a) the delivery of genetic services, b) the implications of genetic medicine for children and adolescents and c) Ethical, Legal and Social Issues in genetic medicine. These translational and multidisciplinary studies (further described below) have been supported by the National Institutes of Health, American Cancer Society, Greenwall Foundation Program in Bioethics, American Society of Clinical Oncology and Pennsylvania Department of Health. We expect these studies, and subsequent studies within this research program to increase our understanding of how to incorporate genomic testing into the care of patients and families in a way that benefits the health and minimizes the risks for patients across the lifespan.
2012 (accepted for publication). Knowledge and perceptions of breast cancer risk among adolescent girls at high-risk and population-risk for breast cancer. Breast Cancer Research and Treatment.
2012. When parents disclose BRCA1/2 results: Their communication and perceptions of offspring response. Cancer 118(13): 3417-25.
2011, Jan/Feb. Genetic testing: Should You Share This Information with Your Kids? Coping, p34.
2011. Direct-to-Consumer Genetic Testing: Personalized Medicine in Evolution. American Society of Clinical Oncology 2011 Educational Book, pp. 34-40.
2011. Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results. Clinical Genetics 79(2):125-131.
2010. Parent opinions regarding the genetic testing of minors for BRCA1/2. J Clin Oncol. 28(21):3498-505.
2010, Feb. Controversies in communication of genetic screening results for cancer: a report from the American Society of Preventive Oncology's Screening Special Interest Group (ASPO's 33rd Annual Meeting, March 8 to 10, 2009, Tampa, Florida). Cancer Epidemiol Biomarkers Prev 19(2):624-7.
2009. Learning of your parent’s BRCA mutation during adolescence or early adulthood: A study of offspring experiences. Psycho-oncology 18(2):200-208.
2008. Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring. American Journal of Medical Genetics 148C (1):70-77.
2007. How often do mutation carriers tell their young children of the family’s risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults. J Clin Oncol 25 (24): 3705-11.
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