Engaging with patient-participants to determine the best way to move genetic testing into the clinic and provide genetic counseling services that work for most patients has been the focus of my career. This includes working with laboratory directors, scientists, geneticists, administrators, patient advocacy organizations, patients, and others to move genetic tests from research to clinical testing. It also includes developing care delivery models that are efficient, meet the needs of patients and provide the necessary information for patients and clinicians to effectively use genetic testing.
My career in genetics began with 13 years of clinical care, including the development of a patient-focused maternal serum screening program and prenatal testing. In 2000 I began a fellowship at the Centers for Disease Control and Prevention (CDC) to learn public health and work to move genetic testing into mainstream healthcare. While at the CDC and Emory University School of Medicine, I worked with the NIH Office of Rare Disease Research on the translation of genetic tests from research to the clinic. To improve our understanding of genetic conditions and provide the information necessary for clinical research on new drugs and treatments, I led the development of online registries to increase the collection of natural history information connected to unique genetic variations. This initially included the registry DuchenneConnect and eventually included the registries SimonsVIP Connect, PrenatalArrayConnect 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 and education needed through Consent and Disclosure Recommendations (CADRe) workgroup.
At Geisinger I led the expansion of the MyCode Community Health Initiative from 100,000 to 175,000 participants, including expansion into the State College region, the Scranton market, AtlantiCare in New Jersey and Geisinger Holy Spirit in Harrisburg.
- 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.
- Barash C.I., Elliston K.O., Faucett W.A., Hirsch J., Naik G., Rathjen A., and Wood G. Harnessing big data for precision medicine: A panel of experts elucidates the data challenges and proposes key strategic decision points. Applied and Translational Genomics. 02/2015; 4.
- 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. (Published online July 1, 2015)
- Delaney SK, … Faucett WA….Green RC. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Review of Molecular Diagnostics. Vol 16:5: 01/2016.
- D’Angelo D., Lebon S., Che Q., Martin-Brevet S., Snyder LA.G., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., …Chung, W.K. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry 12/2015.
- 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
MS Human Genetics, Sarah Lawrence College, 1987
Certification, American Board of Genetic Counseling 1993, 2007, 2017
Pennsylvania Licensed Genetic Counselor 2013-2018
BS Baptist College at Charleston, Charleston, SC