Utilization of the Tablet Application Proband in Pedigree Construction and Assessment.

Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual's health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523-32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children's Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records.

The evolution of cancer risk assessment in the era of next generation sequencing.

Cancer genetics professionals face a new opportunity and challenge in adapting to the availability of cancer genetic testing panels, now available as a result of Next Generation Sequencing (NGS) technology. While cancer panels have been available for over a year, we believe that there is not yet enough data to create practice guidelines. Despite this, a year of experience allows us to provide our opinion on points to consider as cancer genetic counselors incorporate this testing technology into genetic counseling practice models. NGS technology offers the ability to potentially diagnose hereditary cancer syndromes more efficiently by testing many genes at once for a fraction of what it would cost to test each gene individually. However, there are limitations and additional risks to consider with these tests. Obtaining informed consent for concurrent testing of multiple genes requires that genetics professionals modify their discussions with patients regarding the potential cancer risks and the associated implications to medical management. We propose dividing the genes on each panel into categories that vary by degree of cancer risk (e.g. penetrance of the syndrome) and availability of management guidelines, with the aim to improve patient understanding of the range of information that can come from this testing. The increased risk for identifying variants of uncertain significance (VUS) when testing many genes at once must be discussed with patients. Pretest genetic counseling must also include the possibility to receive unexpected results as well as the potential to receive a result in the absence of related medical management guidelines. It is also important to consider whether a single gene test remains the best testing option for some patients. As panels expand, it is important that documentation reflects exactly which genes have been analyzed for each patient. While this technology holds the promise of more efficient diagnosis for many of our patients, it also comes with new challenges that we must recognize and address.