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Information is Power: Experiences in a Population Screening Initiative for Breast and Ovarian Cancer Risk

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Information is Power: Experiences in a Population Screening Initiative for Breast and Ovarian Cancer Risk

 

In Fall 2015 the HudsonAlpha Institute for Biotechnology and Kailos Genetics launched a one-year initiative offering Hereditary Breast and Ovarian Cancer (HBOC) risk information to the local community. In contrast to the current clinical testing paradigm, the Information is Power initiative provides increased access to a 23 gene panel test agnostic to personal and family cancer history. Further, the Information is Power model encourages consumer engagement and initiation of the testing process, with the goal of increasing awareness of hereditary cancer risk and identifying individuals who are unknowingly at risk.


After returning the first 2000 results, the rate of reported pathogenic or likely pathogenic mutations across the 23 genes is ~2.8 %. Potential reasons for this increased incidence compared to other data include ascertainment bias, inclusion of moderate risk genes, and an actual higher incidence than expected. Many positive patients reported a strong family history (36%). However, a significant portion of positive patients reported none (22%) or some, but not strong, (26%) family history. Highly penetrant genes and variants (i.e. BRCA) were identified in all family history types. Recently, the Information is Power initiative has been extended for an additional year and expanded to include a larger geographical area.  In addition to offering no-cost testing for individuals who are 30 years old during the initiative and reduced-cost testing for other adults within the catchment area, a particular effort has been made to increase awareness and uptake among a more diverse population.


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