Office of the Chief Scientific Officer
100 North Academy Avenue
Danville, PA 17822
MS Human Genetics, Sarah Lawrence College, 1987
Certificate, American Board of Genetic Counseling 1993, 2007
License, Pennsylvania Genetic Counseling License, 2013
Genetics, Genomics, Education, Rare Diseases, Pharmacogenetics
Genetic Counseling, Healthcare Provider Education, Oversight and Regulation of Genetic Testing, Online Patient Registries, Informed Consent and Ethics
The use of genetic testing in healthcare links all of my research and includes development of educational programs in genetics; online information services for healthcare professionals and the public; and systems to collect phenotypic information to improve the interpretation of genetic variation.
In 2007 I collaborated with PPMD to develop the patient registry DuchenneConnect. In 2014 this project received a PCORI grant to link the online registry with the electronic medical record and to explore relevant consent issues. The patient registry SimonsVIP Connect focuses on individuals with 16p11.2 deletions and duplication. In 2014 the registry was expanded to include online collection of psychotropic measures and phenotypic information and is currently expanding to include additional genetic changes associated with autism. An online registry was also developed as part of an NIH-funded project to collect phenotypic information on prenatally detected cases of copy-number variations(PI - Ron Wapner, MD from Columbia University).
I led the education and engagement activities of the International Standards for Cytogenomic Arrays (ISCA) and the International Collaboration for Clinical Genomics (ICCG). As a Co-Investigator on two of three sections of the NIH NHGRI-funded Clinical Genome Project (ClinGen) my role includes the development of an online patient registry to improve the collection of phenotypic information and to give researchers and clinicians the ability to contact individuals with specific genetic variants. I am also developing a process to evaluate clinically actionable variants for educational, social, and ethical issues and determining the information and support needed for effective patient care.
I moderated MyCode Biobank focus groups on the issue of “return of research results” and assisted with the modification of the MyCode Consent. Currently I lead the community engagement aspects of the MyCode project.
Williams J, Faucett WA, Smith-Packard B, Wagner M, and Williams MS.
An Assessment of Time Involved in Pre-test Case Review and Counseling for a Whole Genome Sequencing Clinical Research Program.
J Genet Counsel
Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VS, Miller DT. (2014, Feb). Chromosomal microarray impacts clinical management. Clinical Genetics , 85(2):147-53.
Bernhardt B A, Kellom K, Barbarese A, Faucett W A, and Wapner R. (2014, Feb). An Exploration of Genetic Counselors’ Needs and Experiences with Prenatal Chromosomal Microarray Testing. J Genet Counsel , Epub ahead of print.
Riggs ER, Wain KE, Riethmaier D, Savage M, Smith-Packard B, Kaminsky E, Rehm HL, Martin CL, Ledbetter DH, and Faucett WA. (2013, Jun). Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting. Human Mutation , 34:915-919.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman K, Tjernagel J, Simons VIP Consortium, The 16p11.2 European Consortium, Spiro JE, Reymond A, Beckmann JS, Chung WK and Jacquemont S. (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of Medical Genetics , 49(10):660-668.