I am a genetic counselor with experience in multiple clinical settings. This has afforded me a rich set of experiences with patients and their families as well as a variety of interactions through the years with providers. Since coming to Geisinger as an investigator, I am interested in how to educate and consent individuals for genomic sequencing applications. In addition, I am interested in how best to reach providers with the information that they need to incorporate genomic information into routine care for patients. This requires new approaches to communicate with patients and providers as well as new methods to access huge amounts of data, theoretically throughout an individual’s lifetime. There are informatics challenges which involve the physical storage of the data, but also the question of the preferences on the part of providers and patients (and their family members) as to long term access and application of the information gathered. As a researcher in the Electronic Medical Records and Genomics (eMERGE) Network I have participated in the development and administration of a national survey designed to assess patient willingness to participate in a biorepository given policies on data sharing, public access and governance. I am currently working on assessing the perspective of healthcare providers regarding the receipt of unsolicited genomic information for their patients via the electronic health record, using qualitative and quantitative methods.
Cascade screening is a vital outcome of the return genomic results which enables the identification of at risk individuals and significantly increases the opportunity for prevention of high risk conditions. Genetics professionals struggle to effectively reach family members. Through the MyCode return of results and the eMERGE return of genomic results, we studying patients’ views on how best to reach and inform family members with the aim to improve the overall uptake of genetic testing and adherence to appropriate screening and prevention activities.
I am an investigator in the whole genome sequencing clinical research study. Enlisting the partnership of patients and providers in designing reports to covey genome sequencing results is the focus of a project funded through the Patient Centered Outcome Research Institute (PCORI) as a Communication and Dissemination award. The work has led to development of a web-enabled enhanced report available to patients and providers through access to the electronic health record.
- Sanderson SC; Smith ME; Brothers KB; Myers MF; McCormick J; Aufox SA; Shrubsole MJ; Garrison NA; Mercaldo ND; Schildcrout JS; Clayton EW; Antommaria AHM; Basford M; Brilliant M; Connolly JJ; Fullerton SM; Horowitz CR; Jarvik GP; Kaufman D; Kitchner T; Li R; Ludman EJ; McCarty C; McManus V; Stallings SC; Williams JL; Holm IA. (2017). Patients’ attitudes towards consent and data sharing in biobank research: a large multi-site experimental survey in the US. See comment in PubMed Commons belowAm J Hum Genet. 2017 Mar 2;100(3):414-427.
- Smith ME; Sanderson SC; Brothers KB; Myers MF; McCormick J; Aufox SA; Shrubsole MJ; Garrison NA; Mercaldo ND; Schildcrout JS; Clayton EW; Antommaria AHM; Basford M; Brilliant M; Connolly JJ; Fullerton SM; Horowitz CR; Jarvik GP; Kaufman D; Kitchner T; Li R; Ludman EJ; McCarty C; McManus V; Stallings SC; Williams JL; Holm IA (2016) Conducting a large, multi-site survey about patients’ views on broad consent: Challenges and solutions. BMC Med Res Methodol. 2016 Nov 24;16(1):162.
- Buchanan AH, Rahm AK, Williams JL. (2016) Alternate Service Delivery Models in Cancer Genetic Counseling: A Mini-Review. Frontiers Oncol 13 May 2016 | http://dx.doi.org/10.3389/fonc.2016.00120.
- Williams JL, Rahm AK, Stuckey H, Green J, Feldman L, Zallen DT, Bonhag M Segal MM, Fan AL, Williams MS. (2016) Enhancing Genomic Laboratory Reports: A Qualitative Analysis of Provider Review. Am J Med Genet Part A: 9999A:1-8.
- Stuckey H, Williams JL, Fan AL, Rahm AK, Green J, Feldman L, Bonhag M, Zallen DT, Segal MM, Williams MS. (2015) Enhancing Genomic Laboratory Reports From the Patients’ View: A Qualitative Analysis. Am J Med Genet Part A. 167(10):2238-2243.
- Williams JL, Faucett WA, Smith-Packard B, Wagner M, Williams MS . (2014). An assessment of time involved in pre-test case review and counseling for a Whole Genome Sequencing Clinical Research Program. J Genet Counsel , 23(4), 516-521.
- Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AHM, Clayton EW. (2014, Nov). Practical Guidance on Informed Consent for Pediatric Participants in a Biorepository. Mayo Clinic Proceedings , 89(11):147-80.
MS, Medical Genetics, University of Wisconsin-Madison, 1977-1979