My research is focused on the integration of genetic testing into clinical care and the engagement of patient-participants to increase our understanding of genetic variation. This includes developing new ways of engaging participants in research and new ways of delivering patient centered care.
While at the Centers for Disease Control and Prevention (CDC) and Emory University School of Medicine, I focused on the translation of genetic tests from research to the clinic. To improve our understanding of genetic conditions I led the development of online registries to increase the collection of natural history information connected to unique genetic variations. This initially include the registry DuchenneConnect and eventually included the registries SimonsVIP Connect, PrenatalArray and GenomeConnect. I led the education and engagement activities of the International Standards for Cytogenomic Arrays (ISCA), and the International Collaboration for Clinical Genomics (ICCG). These efforts led to a leadership role in the NIH NHGRI-funded Clinical Genome Project (ClinGen) and the development of a process to evaluate variants for the level of genetic counseling needed through CADRe.
- Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VS, Miller DT. Chromosomal microarray impacts clinical management. Clinical Genetics. 2014 Feb. 85(2):147-53.
- Kirkpatrick B., Riggs E.R., Azzariti D.R., Miller V.R., Ledbetter D.H., Miller D.T., Rehm H., Martin C.L., Faucett W.A. GenomeConnect: Matchmaking Between Patients, Clinical Laboratories and Researchers to Improve Genomic Knowledge. Human Mutation. 07/2015; 36(10).
- Ormand KE, Rashkin MS, Faucett WA. Standardizing Variant Interpretation in Genomic Sequencing: Implications for Genetic Counseling Practice. Current Genetic Medicine Report. 09/2015: 3: 137-142.
- Carey D., Fetterolf S.N., David D., Faucett W.A., Kirchner H.L., Mirshahi U., Murray M.F., Smelser D.T., Gerhard G.S., and Ledbetter D.H. The Geisinger MyCode Community Health Initiative: An electronic health record-linked biobank for Precision Medicine research. Genetics in Medicine. GIM-D-15-00345R2.
- Davis D., and Faucett W.A., How Geisinger Made the Case for an Institutional Duty to Return Genomic Research Results to Biobank Participants. Applied and Translational Genomics. Vol. 8. 03/2016 (33-35).
- Dewey, F.E., Murray, M.F., Overton, J.D., Habegger, L., Leader, J.B., Fetterolf, S.N., O’Dushlaine, C., Van Hout, C.V., Staples, J., Gonzaga-Jauregui, C., Metpally, R., Pendergrass, S.A., Giovanni, M.A., Kirchner, H.L., Balasubramanian, S., Abul-Husn, N.S., Hartzel, D.N., Lavage, D.R., Kost, K.A., Packer, J.S., Lopez, A.E., Penn, J., Mukherjee, S., Gosalia, N., Kanagaraj, M., Li, A.H., Mitnaul, L.J., Adams, L.J., Person, T.N., Praveen, K., Marcketta, A., Lebo, M.S., Austin-Tse, C.A., Mason-Suares, H.M., Bruse, S., Mellis, S., Phillips, R., Stahl, N., Murphy, A., Economides, A., Skelding, K.A., Still, C.D., Elmore, J.R., Borecki, I.B., Yancopoulos, G.D., Davis, F.D., Faucett, W.A., Gottesman, O., Ritchie, M.D., Shuldiner, A.R., Reid, J.G., Ledbetter, D.H., Baras, A. and Carey, D.J.: Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study. Science, 354:1549, 2016. PMID: 28008009
EducationMS Human Genetics, Sarah Lawrence College, 1987
Certification, American Board of Genetic Counseling 1993, 2007, 2017
Pennsylvania Licensed Genetic Counselor 2013 – 2018