“I've Freed my Data, have you Freed yours? Together we can discover the uncertainties of the genome.”
My career goals are to increase the use of genetic testing in healthcare, improve access for genetic testing and genetic counseling, and ensure quality services. This requires development of educational programs for healthcare professionals and the public. I am collaborating with federal and state agencies, professional organizations, and educational partners to develop initiatives promoting the broad integration of genetics into healthcare and public health into medical genetics.
My CDC activities are focused on healthcare provider education and genetic testing oversight. This includes an update of the interactive CD-ROM based educational tool "Genetics in Clinical Practice: A Team Approach" in collaboration with Dartmouth College.
I remain interested in the translation of rare genetic research into clinical testing and from 2005 until August 2010, I worked with the NIH Office of Rare Diseases as the Collaboration, Education and Test Translation (CETT) Program Coordinator.
I also am active in the development of online patient communities to increase research opportunities and to provide support to patients and families. With Parent Project Muscular Dystropy (PPMD) I developed a patient-entered registry for Duchenne and Becker Muscular Dystrophy (DBMD) as part of TREAT-NMD. For the Simons Foundation I lead the development of an online community for families with rare chromosomal copy-number variations found on ACGH testing.
Current funding includes a CDC (AAMC) grant to determine barriers to early diagnosis for DBMD and to develop educational programs for healthcare providers. I lead the education effort of the International Standards for Cytogenomic Arrays (ISCA) Consortium Project funded by an NIH GO grant to improve the clinical use of array comparative genomic hybridization tests.
While at Emory I initiated a joint masters-level genetic counseling program with the CDC and I remain a consultant to the new program.