Senior Program Manager
International Center for Genetic Disease
Brigham and Women’s Hospital
Harvard Medical School
After
a successful career in business, she followed a long-held dream to pursue a
latent interest in science. During this mid-career change, she served in a
research fellowship at Harvard Medical School in cancer genetics while
obtaining her graduate degree. With the loss of many loved ones to cancer, she
has been passionate about her work in early diagnosis and treatment of various
cancers, including pancreatic, bladder, colon, breast, and leukemia. She was
pleased to contribute in technical capacities at two renowned cancer centers. She
has also found herself to be passionate about the execution and oversight of
scientific projects. In this capacity, she has implemented genetics efforts
extending beyond her core cancer expertise: infant hearing loss, clinical
genetics, and the gamut of genetic sequencing efforts typical of the Broad
Institute. She has an extensive network of contacts in the genomics community,
and extensive knowledge of the details of running research and clinical genomic
programs
Senior Program Manager
International Center for Genetic Disease
Brigham and Women’s Hospital
Harvard Medical School
After
a successful career in business, she followed a long-held dream to pursue a
latent interest in science. During this mid-career change, she served in a
research fellowship at Harvard Medical School in cancer genetics while
obtaining her graduate degree. With the loss of many loved ones to cancer, she
has been passionate about her work in early diagnosis and treatment of various
cancers, including pancreatic, bladder, colon, breast, and leukemia. She was
pleased to contribute in technical capacities at two renowned cancer centers. She
has also found herself to be passionate about the execution and oversight of
scientific projects. In this capacity, she has implemented genetics efforts
extending beyond her core cancer expertise: infant hearing loss, clinical
genetics, and the gamut of genetic sequencing efforts typical of the Broad
Institute. She has an extensive network of contacts in the genomics community,
and extensive knowledge of the details of running research and clinical genomic
programs
Journal article
Despite genomic sequencing rapidly transforming from being a bench-side tool to a routine procedure in a hospital, there is a noticeable lack of genomic analysis software that supports both clinical and research workflows as well as crowdsourcing. Furthermore, most existing software packages are not forward-compatible in regards to supporting ever-changing diagnostic rules adopted by the genetics community. Regular updates of genomics databases pose challenges for reproducible and traceable...
Journal article
CONCLUSIONS: This study highlights the importance of the NGS-based gene panel testing approach in comprehensively identifying germline variants contributing to cancer predisposition and simultaneous detection of somatic and germline alterations.