Research Interests

While technologic advances have allowed researchers and clinicians to detect more genomic variation than ever before, determining what that variation actually means for an individual’s health is still a formidable task. My work thus far, through the NIH-funded Clinical Genome Resource (ClinGen) has been two-fold: 1) building a publicly available knowledge-base of shared genomic data, providing evidence necessary to clinically interpret genomic variants, and 2) developing standards by which individuals can assess variants and genes in an evidence-based manner.
Building a useful genomics knowledge-base requires participation in data sharing efforts from clinicians, researchers, clinical genetic testing laboratories, and patients. My research has focused on enabling patients to become more active partners in this process through the development of novel consenting resources to facilitate broad genomic data sharing. The consent resources, a one-page consent document and supplementary online video, represent a streamlined consenting approach that could be adapted to other minimal risk studies, making participation more approachable for certain individuals.
My other research interest involves developing standards by which shared information can be used to answer critical questions about genes and variants. My early work involved the development of a metric by which to assess the haploinsufficiency and triplosensitivity of genes/genomic regions, useful in the clinical evaluation of copy number variation. Additionally, I am working on an evidence-based metric by which to assess whether or not a particular gene, when altered, causes a particular disease (gene-disease clinical validity). This metric will be useful in determining which genes are appropriate for inclusion in clinical genetic testing panels. As co-chair of the ClinGen Education Working Group, I will continue to focus on ways to educate healthcare providers on proper usage and application of these metrics in the context of patient care.