Dr. Nephi Walton - Bio
CURRICULUM VITAE
Nephi A. Walton, MD, MS FACMG FAMIA
Professional Summary:
As a professional in medical genetics, biomedical informatics, and precision medicine, Dr. Walton has led efforts at two of the largest population sequencing programs in the United States: the MyCode program at Geisinger and the HerediGene program at Intermountain Healthcare. At Intermountain, he spearheaded the return-of-results program, overseeing the system-wide delivery of genomics-based care to over a million people across Utah, Idaho, and Nevada. Internationally recognized for leadership in integrating genomic information into the medical record and for expertise at the intersection of clinical genomics and artificial intelligence.
As Chair of the American Medical Informatics Association (AMIA) Genomics and Translational Bioinformatics Workgroup, Dr. Walton led the development of national recommendations to promote the application of artificial intelligence in genomics. Also served as the clinical genetics lead in developing new national guidelines for epilepsy genetic testing through the National Society of Genetic Counselors. During tenure at the National Human Genome Research Institute (NHGRI), Dr. Walton directed several major genomics initiatives, including the Genomic Analysis, Visualization, and Informatics Lab-space (AnVIL) and the Electronic Health Records and Genomics (eMERGE) Consortium. Additionally, he was one of three program directors overseeing the Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) programs.
Dr. Walton has served in advisory roles for precision medicine initiatives for several large organizations, including Dell, HIMSS, Hamad Medical Corporation, and the Sync for Genes project. Prior to attending medical school, Dr. Walton founded two companies where he led large software development teams to create advanced medical software for companies such as Wiley Publishing, including photorealistic anatomy dissection software and 3D physiology modules.
Dr. Walton's educational background includes an M.D. with residency training in pediatrics, clinical genetics, and clinical informatics, as well as an M.S. in Biomedical Informatics with a focus on artificial intelligence and machine learning.
Dr. Walton has delivered numerous invited talks and presentations, demonstrating leadership in artificial intelligence, genomics, and the integration of genomic information into clinical care. His extensive list of publications reflects a deep commitment to research, innovation, and advancing precision medicine. Dr. Walton holds two board certifications and maintains a limited but active clinical practice.
In summary, Dr. Walton's unique blend of skills in clinical genetics, software development, artificial intelligence, and clinical genomics positions hi as a leader in the integration of genomic data into healthcare systems, enhancing precision medicine and patient care. His leadership in national health sequencing initiatives, combined with his current clinical role at the University of Utah and consulting work in genomics and AI, exemplifies his dedication to advancing precision medicine and developing innovative genomic software solutions.
Education:
2012-2017 St Louis Children’s Hospital - Residency Pediatrics/Genetics
2004-2012 University of Utah, Salt Lake City, UT M.D. Medicine
2006-2010 University of Utah, Salt Lake City, UT M.S. Biomedical Informatics
1995-2003 University of Utah, Salt Lake City, UT B.S. Biology, Physics Minor
1995 Wavefront University, Santa Barbara, CA Certificate Computer Animation
Appointments and Committees:
2023 - 2024 Scientific Planning Committee – AMIA Informatics Summit
2023 - 2024 Informatics Section Editor – Advances in Molecular Pathology, Elsevier
2023 - 2023 Oversight, AnVIL Clinical Resource, National Human Genome Research Institute
2023 - 2023 Oversight, eMERGE EHRI workgroup, National Human Genome Research Institute
2021 - 2023 Stakeholder Panel – Sync for Genes, Office of the National Coordinator for Health Information Technology
2021 - 2023 Chair, Data Architecture and Governance Committee, Intermountain Research
2020 - 2023 Intermountain Precision Genomics Scientific Review Committee
2020 - 2023 Intermountain Ethical, Legal and Social Implications Committee
2020 - 2023 Medical Director, Heredigene Population Study
2018 - 2020 Epic Genomics Braintrust
2018 - 2020 Lead, Epic Genomic Data Implementation, Geisinger
2018 - 2020 Lead, Pharmacogenomics Implementation, Geisinger
2017 - 2020 MyCode Return of Results, Geisinger
2017 - 2020 Physician Informaticists, Geisinger
2016 - 2017 Epic Genetics Implementation Group, St Louis Children’s Hospital
2016 - 2022 Guideline Development Committee National Society of Genetic Counselors
Genetic testing and Counseling for the Unexplained Epilepsies
2016 - 2017 High Resolution Data User Group, Pediatrics Computing Facility
2014 - 2017 Lab Utilization Committee, St Louis Children’s Hospital
Medical Licensure and Board Certification
2019- ABPM Clinical Informatics - Board Certified
2017 - Clinical Genetics and Genomics - Board Certified
2017- State of Utah Medical License
2017 - 2022 State of Pennsylvania Medical License
2012 - 2017 State of Missouri Medical License
Honors and Awards
2025 Semifinalist, “Gene Therapy” TV Pilot, Wiki Screenplay Contest
2022 Semifinalist, “Precision” TV Pilot Quarterfinalist, Filmmatic - Inroads Fellowship Season 5
2016 Top Quality Improvement Project, QI Showcase - St Louis Children’s Hospital, Decreasing the Cost and Increasing the Diagnostic Yield of Genetic Testing.
2016 Top Poster - American College of Medical Genetics Annual Meeting, Decreasing the Cost and Increasing the Diagnostic Yield of Genetic Testing – Developing a Genetic Testing Algorithm for Epilepsy.
2009 IPHIE International Partnership in Health Informatics Education – Trainee
2008 1st Place AMIA National Data Mining Competition – Predicting Self Reported Health Status Using NHANES data.
2006-2010 National Library of Medicine Fellow
1997 1st Place "Best Healthcare Application" - New York Festivals "Worlds Best Work" for Virtual Anatomy – 3D Skeletal System
1997 1st Place "Best Interface Design" - New York Festivals "Worlds Best Work" for Virtual Anatomy – 3D Skeletal System
Professional Societies and Organizations
Health Level Seven International – Genomics Work Group
American Society of Human Genetics
American College of Medical Genetics
American Medical Informatics Association
Healthcare Information and Management Systems Society
Human Anatomy and Physiology Society
The Association for Computing Machinery
Global Alliance for Genomics and Health
American Academy of Pediatrics
Invited Talks/Conference Presentations
April 2025 Artificial Intelligence and Genomics, Evicore, Franklin TN
April 2025 Towards clinical application of GA4GH products, Global Alliance for Genomics and Health, Boston, MA
Feb 2025 Artificial Intelligence and Genomics, Advancing Genomic Medicine Research Symposium – National Human Genome Research Institute, Bethesda MD
Nov 2024 Poster: Defining a Clinical Data Ecosystem for Genomic Health – American Society of Human Genomics, Denver, CO
April 2024 Workshop: Defining a Clinical Data Ecosystem for Genomic Health – National Human Genome Research Institute, Bethesda MD
Nov 2023 A Study on ChatGPT’s Capabilities in Facilitating Medical Genetic Education – American Medical Informatics Association Annual Meeting, New Orleans, LA
Sept 2023 Scaling Population Health Genomics – Mount Sinai Institute for Genomic Health Seminar, New York City, NY
July 2023 Genomics and Artificial Intelligence in Clinical Care - International Conference on Intelligent Biology and Medicine, Tampa, FL
June 2023 Artificial Intelligence and Genomics - Current State and Future Directions, Predictive Analytics World Healthcare, Las Vegas, NV
March 2023 Unraveling the Phenotypic Consequences of Variation in the TTN Gene, American College of Medical Genetics, Salt Lake City, UT
May 2022 Building Bridges: The Intermountain HerediGene Project, University of Utah Center for Genomic Medicine Symposium, Salt Lake City, UT
April 2022 Legal Challenges of Precision Medicine: Role of Genetic Testing, American Bar Association, 23rd Annual Emerging Issues in Healthcare Law Conference, Miami Florida
March 2022 Creating a Home for Genetic Data in the Electronic Health Record, Mayo Clinic Center for Individualized Medicine, Rochester, MN
Feb 2022 Clinical Application of Artificial Intelligence in Genomics, HIMSS 2022 Annual Meeting, Orlando Florida
Nov 2021 Creating a Home for Genomic Data in the Electronic Health Record, AMIA Annual Symposium, San Diego, CA
Nov 2021 Germline Variants and Integration of Genomic Data in Electronic Health Record, HMC Virtual Precision Medicine Conference, Doha, Qatar
April 2021 Looking Beyond the Lamppost: Genome-First Approaches to Disease Prevalence, Penetrance, and Phenotype: Integration of Genome-First Genetics Into Routine Clinical Care, American College of Medical Genetics Annual Meeting.
March 2021 ASHP-AMA Pharmacogenomics Virtual Summit Series: A Tale of Two Implementations: PGx Integration into the Native EHR
Feb 2021 Integration of Genomic Data into the Electronic Health Record: Current State and Future Directions, NHGRI Genomic Medicine XIII
March 2020 Pilot Implementation of Clinical Genomic Data into the Native Electronic Health Record (EHR): Challenges of Scalability - AMIA Informatics Summit, Houston, TX
March 2020 GPACS: A SMART on FHIR App for Integrating Genotype and EHR Derived Phenotype Data for Real-Time Point of Care Access _ AMIA Informatics Summit, Houston TX
Nov 2019 Session Chair - “Genomics for Patients” AMIA Annual Symposium, Washington DC
March 2019 Panel - Operationalizing Innovation for the Return of Genetic and Genomic Results - AMIA Informatics Summit, San Francisco, CA
Feb 2019 Bringing Genomics to General Practice – HIMSS Precision Medicine Summit. Orlando, FL
Jan 2019 Genetics in the EHR – Lessons learned – eMERGE Consortium. Bethesda, MD
Jan 2019 Genomics Based Healthcare – A New Reality - NYU - Winter Institute of Statistical Genomics, Abu Dhabi, United Arab Emirates
Dec 2018 Integrating Genomic Data into the Electronic Health
Record - Brown University, Providence RI
Nov 2018 Leveraging New Technologies to Transform Child Health - AAP Annual Meeting – Peds 21, Orlando, FL
Sept 2018 Integrating Genomic Data into the Clinical Workflow – Pediatric Genomics 2018, Kansas City, MO
June 2018 Legal Challenges in the Field of Precision Medicine, Precision Medicine Leaders Summit, Jersey City, NJ
May 2018 Moving Genomics to General Practice – HIMSS Precision Medicine Summit, Boston, MA
Jan 2018 Advancing Precision Medicine with Machine Learning – AI in Healthcare Summit, Boston, MA
June 2017 Moving Genomics to General Practice – HIMSS Precision Medicine Summit, Boston, MA
May 2017 Rising to the Challenges of Precision Medicine, Big Data & Analytics in Healthcare Summit, Philadelphia, PA
Nov 2016 Personalized and Precision Medicine At Scale Genetic Testing and Clinical Intervention in a Large Population – AMIA Annual Meeting, Chicago, IL
Oct 2016 Predictive Analytics, Genomics, and Precision Medicine – Separating Hype from Reality, Predictive Analytics World Healthcare, New York, NY
Oct 2016 Using Informatics to Increase Efficiencies: Predictive Analytics in the Laboratory, Lab Institute 2016, Washington DC
Aug 2016 Panel – Precision Medicine - Innovation Versus Implementation – Precision Medicine Leaders Summit, San Diego, CA
June 2016 Precision Medicine at Scale: The Challenge and the Promise, HIMSS Big Data Healthcare Analytics Forum, San Francisco, CA
May 2016 Webinar - Decreasing the Cost and Increasing the Diagnostic Yield of Genetic Testing Developing a Genetic Testing Algorithm for Epilepsy – Pediatric Lab Utilization Group (PLUGS)
March 2016 Predicting Inpatient Census with Viral Surveillance Data, HIMSS Annual Meeting, Las Vegas, NV
March 2016 Predictive Analytics in Healthcare - Harnessing Your Data to Increase Efficiency and Improve Care, HIMSS Midwest Gateway Chapter, Chesterfield, MO
Nov 2015 Bringing Great Ideas to Life on Medicine's Frontline - HIMSS Big Data Healthcare Analytics Forum, Boston, MA
Sept 2015 Predictive Analytics in Lab Utilization – Decreasing Costs of Laboratory Testing While Increasing Diagnostic Yie2ld, Predictive Analyti2cs World Healthcare, Boston MA
June 2015 Forecasting Patient Volumes for Hospital Resource Allocation - HIMSS Big Data Healthcare Analytics Forum, New York, NY
Nov 2014 Predictive Analytics in Healthcare - Dell World 2014, Austin TX
Oct 2014 Using Predictive Analytics to Forecast Hospital Patient Volume for Hospital Resource Allocation and Staffing, Predictive Analytics World, Boston MA
May 2012 Hospital Census Prediction Models For Nurse Staffing At Primary Children’s Medical Center – Pediatric Grand Rounds, University of Utah School of Medicine
Nov 2009 A Novel Neural Network Approach for Real-Time RSV Outbreak Prediction - AMIA Annual Meeting, San Francisco, CA
June 2009 A Novel Neural Network Approach for Real-Time RSV Outbreak Prediction - National Library of Medicine Public Health Meeting, Washington DC
Nov 2008 Prediction of Self-Reported Health Status Using Data Mining Techniques - AMIA Annual Meeting, Washington DC
July 2008 Forecasting Hospital Census at a Tertiary Care Children's Hospital - National Library of Medicine Informatics Training Conference, Bethesda, MD
Teaching / Education Experience:
2018-2020 Medical Director, Geisinger School of Medicine Precision Health Program
2018-2020 Mentor/Advisor, Geisinger Clinical Informatics Fellowship Program
2018-2019 Instructor, Clinical Genetics, Medical Ethics
2017 Instructor, Clinical Genetics
2016 Instructor, Predictive Analytics in Healthcare, PAW, NYC, NY
2015 Instructor, Predictive Analytics & Machine Learning, University of California Irvine
2002 Teaching Assistant Organic Chemistry I, University of Utah, SLC, UT
2002 Teaching Assistant Organic Chemistry II, University of Utah, SLC, UT
Consulting Relationships and Board Memberships:
2023 – 2024 Clinical Informatics Consultant - National Human Genome Research Institute
2023 - 2024 Artificial Intelligence Consultant – Price Waterhouse Coopers
2021 - 2022 Advisory Board for Precision Genomics – Hamad Medical Corporation
2016 - 2019 Advisory Board for Precision Medicine – HIMSS Media
2015 - 2016 Advisor - Precision Medicine/Genomics – Aetna - Active Health
2014 - 2016 Advisor - Predictive Analytics/Healthcare Analytics – Dell Computers
Publications:
Walton NA. STORIES from the FRONT LINES – Precision Medicine in Practice – Competing with a Digital Super Intelligence. Inside Precision Medicine. 2025 May.
Wagholikar KB, Pacheco JA, Gordon AS, Khan A, Khales BN, … Walton NA, Limdi N, Maripuri DP, Walunas T, Gainer V, Luo Y, Liu C, Kenny EE, Espinoza A, Rowley R, Wei WQ, Murphy SN. Current Limitations of Electronic Health Record Systems in Supporting Pragmatic Clinical Trials: Insights from the eMERGE Consortium. medRxiv [Preprint]. 2025 Apr 3:2025.04.01.25325049. doi: 10.1101/2025.04.01.25325049. PMID: 40236425; PMCID: PMC11998813.
Nagarajan R, Kondo M, Salas F, Sezgin E, Yao Y, Klotzman V, Godambe S, Khan N, Limon A, Stephenson G, Taraman S, Walton NA, & Ehwerhemuepha L, Pandit J, Pandita D, Weiss M, Golden Charles, Gold A, Henderson J, Martel S. (2024). “Economics and Equity of Large Language Models: Healthcare Perspective.” J Med Internet Res. 2024 Nov 14;26:e64226. doi: 10.2196/64226. PMID: 39541580
Rimmasch M, Wilson CA, Walton NA, Huynh K, Bonkowsky JL, Palmquist R. Factors impacting time to genetic diagnosis for children with epilepsy. Epilepsia Open. 2024 Dec;9(6):2495-2504. doi: 10.1002/epi4.13053. Epub 2024 Oct 28. PMID: 39467089
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. PMID: 38433186; PMCID: PMC10910835.
Critical Assessment of Genome Interpretation Consortium. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6. PMID: 38389099; PMCID: PMC10882881.
Chamala S, Dolin RH, and Walton NA. "Is Picture Archiving and Communication System a Model for Genomics?" Advances in Molecular Pathology (2024).
Chamala S, Dolin RH, and Walton NA. "Artificial Intelligence Applications Genomics." Advances in Molecular Pathology (2024).
McGrath SP, Kozel BA, Gracefo S, Sutherland N, Danford CJ, Walton NA. “A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions.” Journal of the American Medical Informatics Association. 2024 Jun 14:ocae128.
Walton NA, Nagarajan R, Wang C, Sincan M, Freimuth RR, Everman DB, Walton DC, McGrath SP, Lemas DJ, Benos PV, Alekseyenko AV, Song Q, Gamsiz Uzun E, Taylor CO, Uzun A, Person TN, Rappoport N, Zhao Z, Williams MS. “Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup. J Am Med Inform Assoc. 2023 Nov 30
Knight S, Le VT, Walton NA, Christensen GB, Evans JM, May HT, Anderson JL, Nadauld L, Knowlton KU. “Major Cardiovascular Events and Liver Disease in Patients With Truncating Variants in APOB and PSCK9”, Circulation. 2023 Nov 6;148
Knowlton KU, Walton NA, Najarian G, Christensen GB, Evans JM, May HT, Anderson JL, Nadauld L, Knight S. “Cardiomyopathy Diagnoses in a General Population Study of TTN Pathogenic Variants: A Missed Opportunity to Diagnose Familial Cardiomyopathy?” Circulation. 2023 Nov 6;148
Knight S, Walton NA, Le VT, Evans JM, Christensen GB, Knowlton KU, Nadauld L, Anderson JL. The Natural History of Familial Hypercholesterolemia Diagnosis, Treatment, and Outcomes in Patients With Incidental LDLR Pathogenic Mutation Found in Population Based Sequencing Study. Circulation. 2023 Nov 6;148
Walton NA, Nguyen HH, Procknow SS, Johnson D, Anzelmi A, Jay PY. Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease. Biology (Basel). 2023 Sep 27;12(10):1290
Taylor DP, Heale BS, Walton NA, McLeod HL, Nadauld LD, Kharkar PR, HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.” In AMIA Annual Symposium Proceedings 2023. American Medical Informatics Association
Walton NA, Gracefo S, Sutherland N, Kozel B, Danford CJ, McGrath SP, Walton N, Graceffo S, Sutherland N, Kozel B, Danford C, McGrath S. “Evaluating ChatGPT as an Agent for Providing Genetic Education.” bioRxiv. 2023:2023-10.
Walton NA. STORIES from the FRONT LINES – Precision Medicine in Practice – Cost of Precision Medicine. Inside Precision Medicine.
Walton NA, Christensen GB. Paving a pathway for large-scale utilization of genomics in precision medicine and population health. Frontiers in Sociology. 2023 May 19;8:1122488.
Walton NA. Stories from the Front Lines—Precision Medicine in Practice - Pharmacogenomics. Inside Precision Medicine. 2023 Feb 1;10(1):56-7.
Knight S, Walton NA, Anderson J, Cutler M, Emmerson M, Hebl V, Le V, Carlquist J, May H, Moench S, Knowlton K. P215: Moving beyond cascade genetic testing in first-degree relatives by using genealogy data to identify and genetically test distant relatives. Genetics in Medicine Open. 2023 Jan 1;1(1).
Sutherland N, Kohlmann W, Curtin K, Ma D, Berry T, Stantuci K, Fraser A, Pappas L, Jump T, Walton NA, Camp N. O15: Cancer genetic testing in families across Utah: Development of a statewide database. Genetics in Medicine Open. 2023 Jan 1;1(1).
Walton N, Anderson J, Emmerson M, Knowlton K, Evans J, Christensen B, Knight S. P344: Unraveling the phenotypic consequences of variation in the TTN gene. Genetics in Medicine Open. 2023 Jan 1;1(1).
Walton NA, Miner GD, Goldstein M. Challenges for healthcare administration and delivery: integrating predictive and prescriptive modeling into personalized–precision healthcare. In Practical Data Analytics for Innovation in Medicine: Building Real Predictive and Prescriptive Models in Personalized Healthcare and Medical Research Using AI, ML, and Related Technologies, Second Edition 2023 Jan 1 (pp. 395-399). Elsevier.
Pacheco JA, …Walton NA, … Rasmussen LV, Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network. Scientific reports. 2023 Feb 3;13(1):1971.
Brandt PS, Kho A, Luo Y, Pacheco JA, Walunas TL, Hakonarson H, Hripcsak G, Liu C, Shang N, Weng C, Walton NA et al. Characterizing variability of electronic health record-driven phenotype definitions. Journal of the American Medical Informatics Association. 2023 Mar 1;30(3):427-37.
Smith L, Malinowski J, Ceulemans S, Peck K, Walton NA, Sheidley BR, Lippa N. Genetic testing and counseling for the unexplained epilepsies: an evidence‐based practice guideline of the National Society of genetic counselors. Journal of Genetic Counseling. 2023 Apr;32(2):266-80.
Miner GD, Miner LA, Burk S, Goldstein M, Nisbet R, Walton NA, Hill T. Practical Data Analytics for Innovation in Medicine: Building Real Predictive and Prescriptive Models in Personalized Healthcare and Medical Research Using AI, ML, and Related Technologies. Elsevier; 2023 Jan 1.
Walton NA, Hafen B, Graceffo S, Sutherland N, Emmerson M, Palmquist R, Formea CM, Purcell M, Heale B, Brown MA, Danford CJ et al. The Development of an infrastructure to facilitate the use of whole genome sequencing for population health. Journal of Personalized Medicine. 2022 Nov 8;12(11):1867.
Walton N, Heale B, Formea C. Clinical decision support methods and infrastructure. Clinical Decision Support for Pharmacogenomic Precision Medicine. 2022 Jan 1:109-30.
Walton NA. STORIES from the FRONT LINES – Precision Medicine in Practice – Genome Sequencing Clinic. Inside Precision Medicine. 2022 Dec 1;9(S1):20-1.
Wiley K, Findley L, Goldrich M, Rakhra-Burris TK, Stevens A, …, Walton N, Weng C, Zayas-Cabán T, Manolio TA, Williams MS. A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources. Journal of the American Medical Informatics Association. 2022 Aug 1;29(8):1342-9.
Walton N, Johnson D, Heale B, Person T, Williams M. Creating a home for genomic data in the electronic health record. In AMIA Annual Symposium Proceedings 2021 (Vol. 2021, p. 1196). American Medical Informatics Association.
Yu, J., Pacheco, J. A., Ghosh, A., Luo, Y., Weng, C., Shang, N., ... & Walton N, Wei, W, Rasmussen, L. (2021). Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions. BMC Medical Informatics and Decision Making. 2022 Jan 28;22(1):23.
McGrath SP, Peabody Jr AE, Walton DC, Walton NA. Legal challenges in precision medicine: what duties arising from genetic and genomic testing does a physician owe to patients?. Frontiers in Medicine. 2021 Jul 26;8:663014.
Rasmussen LV, Connolly JJ, Del Fiol G, Freimuth RR, Pet DB, Peterson JF, Shirts BH, Starren JB, Williams MS, Walton NA, Taylor CO. Infobuttons for genomic medicine: requirements and barriers. Applied clinical informatics. 2021 Mar;12(02):383-90.
Campbell-Salome G, Jones LK, Masnick MF, Walton NA, Ahmed CD, Buchanan AH, Brangan A, Esplin ED, Kann DG, Ladd IG, Kelly MA. Developing and optimizing innovative tools to address familial hypercholesterolemia underdiagnosis: identification methods, patient activation, and cascade testing for familial hypercholesterolemia. circulation: genomic and precision medicine. 2021 Feb;14(1):e003120.
eMERGE Consortium. Lessons learned from the eMERGE Network: balancing genomics in discovery and practice. Human Genetics and Genomics Advances. 2021 Jan 14;2(1):100018.
Rahm AK, Walton NA, Feldman LK, Jenkins C, Jenkins T, Person TN, Peterson J, Reynolds JC, Robinson PN, Woltz MA, Williams MS. User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis. BMJ Health & Care Informatics. 2021;28(1).
Chamala S, Majety S, Mishra SN, Newsom KJ, Gothi SR, Walton NA, Dolin RH, Starostik P. Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories. ACI Open. 2020 Jul;4(02):e167-72.
Walton, NA, Johnson DK, Person TN, Reynolds JC, Williams MS. Pilot implementation of clinical genomic data into the native electronic health record: challenges of scalability. ACI open. 2020 Jul;4(02):e162-6.
Kuhn BR, Young AJ, Justice AE, Chittoor G, Walton NA. Infant acid suppression use is associated with the development of eosinophilic esophagitis. Diseases of the Esophagus. 2020 Oct;33(10):doaa073.
Dexter P, Ong H, Elsey A, Bell G, Walton NA, Chung W, Rasmussen L, Hicks K, Owusu-Obeng A, Scott S, Ellis S, Peterson J. Development of a genomic data flow framework: results of a survey administered to NIH-NHGRI IGNITE and eMERGE consortia participants. In AMIA Annual Symposium Proceedings 2019 (Vol. 2019, p. 363). American Medical Informatics Association.
Robinson JR, Carroll RJ, Bastarache L, Chen Q, Mou Z, Wei WQ, Connolly JJ, Mentch F, Sleiman P, Crane PK, Hebbring SJ, Stanaway IB, Crosslin DR, Gordon AS, Rosenthal EA, Carrell D, Hayes MG, Wei W, Petukhova L, Namjou B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Kullo IJ, Hakonarson H, Jarvik GP, Larson EB, Weng C, Roden DM, Denny JC. Association of genetic risk of obesity with postoperative complications using Mendelian randomization. World journal of surgery. 2020 Jan;44:84-94.
Walton NA, Johnson DK, Person TN, Chamala S. Genomic data in the electronic health record. Advances in Molecular Pathology. 2019 Nov 1;2(1):21-33.
McGrath SP, Walton N, Williams MS, Kim KK, Bastola K. Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. BMC health services research. 2019 Dec;19(1):1-2.
Williams MS, Taylor CO, Walton NA, Goehringer SR, Aronson S, Freimuth RR, Rasmussen LV, Hall ES, Prows CA, Chung WK, Fedotov A, Nestor J, Weng C, Rowley RK, Wiesner GL, Jarvik GP, Del Fiol G. Genomic information for clinicians in the electronic health record: lessons learned from the clinical genome resource project and the electronic medical records and genomics network. Frontiers in genetics. 2019 Oct 29;10:1059.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Walton NA, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genetics in Medicine. 2020 Mar;22(3):547-56.
Rhine CL, Neil C, Glidden DT, Cygan KJ, Fredericks AM, Wang J, Walton NA, Fairbrother WG. Future directions for high‐throughput splicing assays in precision medicine. Human mutation. 2019 Sep;40(9):1225-34.
Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Distal chromosome 16p11. 2 duplications containing SH2B1 in patients with scoliosis. Journal of medical genetics. 2019 Jul 1;56(7):427-33.
Taylor CO, Lemke KW, Richards TM, Roe KD, He T, Arruda-Olson A, Carrell D, Denny JC, Hripcsak G, Kiryluk K, Kullo I, Larson EB, Peissig P, Walton NA, Wei-Qi W, Ye Z, Chute CG, Weiner JP. Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System. AMIA Summits on Translational Science Proceedings. 2019;2019:145.
Zhang XA, Yates A, Vasilevsky N, Gourdine JP, Callahan TJ, Carmody LC, Danis D, Joachimiak MP, Ravanmehr V, Pfaff ER, Champion J, Robasky K, Xu H, Fecho K, Walton NA, et al. Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery. NPJ digital medicine. 2019 May 2;2(1):32.
Akhirome E, Walton NA, Nogee JM, Jay PY. The complex genetic basis of congenital heart defects. Circulation Journal. 2017 Apr 25;81(5):629-34.
Walton NA. Practical Predictive Analytics and Decisioning Systems for Medicine. USA: Academic Press; 2014. 1110p.
Walton NA, Rastunkov V, Miner G. Text Mining PubMed: Extracting Publications on Genes and Genetic Markers Associated with Migraine Headaches from PubMed Abstracts. In Practical Text Mining and Statistical Analysis for Non-structured Text Data Applications 2012 Jan 1 (pp. 703-750). Academic Press.
Leecaster M, Gesteland P, Greene T, Walton N, Gundlapalli A, Rolfs R, Byington C, Samore M. Modeling the variations in pediatric respiratory syncytial virus seasonal epidemics. BMC infectious diseases. 2011 Dec;11(1):1-9.
Walton NA, Poynton MR, Gesteland PH, Maloney C, Staes C, Facelli JC. Predicting the start week of respiratory syncytial virus outbreaks using real time weather variables. BMC medical informatics and decision making. 2010 Dec;10(1):1-9.
Walton NA. Predicting Self-Reported Health Status Using Artificial Neural Networks . In: Handbook of Statistical Analysis and Data Mining Applications. Miner G, editor. Burlington, MA: Elsevier; 2009. Chapter N; p.681-703. 824p.
Walton N, Poynton MR, Maloney C, Gesteland PH. Forecasting hospital census at a tertiary care children's hospital. InAMIA... Annual Symposium proceedings. AMIA Symposium 2007 Oct 11 (pp. 1147-1147).
Grants/Funding:
Completed Research Support
Real Time Genetic Diagnosis at the Point of Care
R01HG011799-01 (Williams) 04/01/2021 03/31/2026
Walton Site PI Intermountain Healthcare/Primary Author Geisinger
NIH/NHGRI Current Year Funding $842,922
Walton Site PI Funding Ended 04/30/2023
The burden on patients and caregivers when complex diseases arise creates a taxing toll for both families and healthcare systems. Multiple inpatient hospitalizations and various testing procedures often bring more unknowns and grief to an already difficult situation. Hospital visits disrupt patient schedules, and also place unnecessary burdens on a healthcare system whose purpose is to maximize the health outcomes of the patients. These complex diseases utilize extra visits and unnecessary testing. We want to develop a system that would identify patients who could benefit from accessing their existing genetic information. To realize this vision, we have identified three areas that we would like to address. Identification of patients with a candidate condition in real time, followed by a concurrent bioinformatic analysis of the genomic sequence data. Finally, we want to address returning the genetic test result to the provider and patient so that both parties have the appropriate information to guide condition-specific care.
Collaborative Research to Explore Genetic Variation and Phenotypic Spectrum of Elastin and Related Genes
U01 HD100371 (Williams; Kozel) 12/1/2019 – 11/30/2024
Walton – Site PI Intermountain Healthcare/Primary Author Geisinger
NIH/NHLBI Current Year Funding $497,344
Walton Site PI Funding Ended 04/30/2023
In the past, the medical community identified human diseases by combining patients with similar phenotypes and looking for shared genetic changes. This approach is limited by our clinical ability to see appropriate connections between phenotypic features in patients. This application uses a gene-first approach in a large research cohort with associated exome sequences to identify the full range of medically relevant human phenotypes (common and rare) associated with variants in genes coding for elastic fiber proteins followed by deep phenotyping in individual patients to learn more about the mechanism of disease and its clinical impact. I lead the writing and scientific approach of this grant, my role is to build and deploy large scale phenotyping processes to the electronic health record that can then be used in combination with genetic data for variant classification and discovery of new gene-phenotype associations.
Identification Methods, Patient Activation, and Cascade Testing for FH: IMPACT-FH R01 HL148246 (Sturm) 8/15/2019 – 7/31/2023
Walton – Co-Investigator/Author AIM 1
NIH/NHLBI Current Year Funding $510,189
Walton Funding Ended 04/30/2020
The goal of this project is to test and optimize methods to identify patients with Familial Hypercholesterolemia (FH), strategies to improve family communication and FH cascade testing uptake, and evaluate the implementation outcomes of feasibility, acceptability, and cost at the system, clinician, and patient levels to create an exportable model for FH identification and cascade testing that can be implemented across broad healthcare settings. My role in this grant is build genomic FH detection algorithms and run and modify existing algorithms based on clinical data. I am also reconstructing family trees of patients using genomic data and generating comprehensive family histories for each patient using their relative’s clinical information.
EMR-Linked Biobank to Assess Outcomes in Participants and their Relatives Receiving Genomic Results
U01 HG 008679 (Williams) 4/1/2019 – 3/31/2020
Walton – Co-Investigator
NIH/NHGRI Current Year Funding $544,027
The Geisinger objective for the proposed 1-year extension is to measure the impact on health outcomes for all Geisinger participants receiving a result from sequencing and extend measurement of that impact to at risk family members contacted by the Geisinger Genomic Screening and Counseling program to offer cascade testing for the familial variant. For eMERGE I lead Geisinger’s efforts in the Electronic Health Records Integration subgroup, integrating genomic data into the electronic health record. I also lead Geisinger Natural Language Processing (NLP) efforts in eMERGE.
A Unified Clinical Genomics Database
U41 HG 006834 (Martin; Ledbetter; Rehm) 8/1/2017 – 7/31/2021
Walton – Co-Investigator
NIH/NHGRI $733,947
The goal of the Clinical Genome Resource (ClinGen) project is to build an authoritative central resource that defines the clinical relevance of genes and variants for use in precision health and research. A main aim is to develop a public domain for the sharing of genotypic and phenotypic information from laboratories, clinicians, and patients to support evidence-based curation of genes and genomic variants. For this grant I am leading Geisinger’s efforts in the development of genomic resources that interface with the electronic health record.
Discovering Splicing Defects in Humans
R01 GM 127472 (Fairbrother) 8/23/2018-4/30/2022
Walton – Site PI
NIH NIGMS $66,651
Discovery of new splicing mutations through functional studies with validation through high throughput phenotyping in the electronic health record to compare phenotypes to predicted functional effects of splicing. My role is to lead efforts at Geisinger to build and deploy text mining and natural language processing algorithms that construct comprehensive phenotypic profiles of patients from the electronic health record that can then be used for validation and discovery.
A Genotype-Phenotype Archiving and Communication System
1 R43 HG 010322 (Williams; Segal) 9/19/2018 – 8/31/2019
Walton – Site Co-Investigator/Author Aim 1
NIH/NHGRI $57,189
The goal of this project is to run the Phenotype Builder on the electronic health records (EHR) of patients whose genome has been sequenced, and who have been diagnosed with a genetic disease to generate a Raw Finding List. We will oversee the implementation of raw VCF's archive and APIs, Annotation knowledge archive, annotated variants archive to empower clinicians to use full data in genomic diagnosis. We will evaluate the end-to-end G-PACS environment. I have successfully lead the development of the GPACS system which now operates with open HSPC platform to store and connect genomic data to the EHR.
VGER, the Vanderbilt Genome-Electronic Records Project
3 U01 HG 008672 (Roden) 6/1/2018 – 8/31/2019
Walton – Subaward Co-Investigator
NIH/NHGRI $134,825
The goal of this project is to develop infrastructure, policies and processes to integrate patient facing family health history (FHH) into the clinical workflow for genetics and genomics. For this project I lead the implementation of the family history tool into the Epic environment.
National Library of Medicine Informatics Training Grant.
1T15LM007124
8/2006 – 5/2010
Completed informatics training in 2010. Two years of fellowship in genetic epidemiology with subsequent two years training in machine learning and predictive analytics. Thesis based on data mining, machine learning, and predictive analytics techniques.
Role: National Library of Medicine Fellow