Dr. Emma-Kurnat-Thoma

National Institutes of Health, National Institute of Nursing Research (NIH/NINR), Bethesda, MD, USA

Dr. Emma Kurnat-Thoma is a Nurse Scientist and Adjunct Assistant Professor in Genetics/Genomics at Georgetown University, School of Nursing and Health Studies, and a Postdoctoral Research Fellow at the National Institutes of Health, National Institute of Nursing Research (NIH/NINR).

Dr. Kurnat-Thoma has over 20 years of clinical nursing, research and health policy experience including 8 years of critical care nursing in neonatal, pediatric and adult settings. Dr. Kurnat-Thoma completed her BSN in Nursing with Honors from Bloomsburg University (1998), MS in Adult Acute Care from University of Utah (2006), and her PhD in Nursing from University of Utah (2010) through the NIH/NINR Graduate Partnerships Program in Bethesda, MD. She completed her doctoral thesis in the Genome Technology Branch, National Human Genome Research Institute (2006-2010). Her thesis evaluated genetic associations in cobalamin metabolism candidate genes with biochemical, clinical and functional performance outcomes in a National Institute of Aging cross-sectional cohort of 795 community dwelling older adult women. Her thesis work also included a health policy emphasis examining the impacts of genetics/genomics on the U.S. healthcare delivery system and the adequate preparation of the U.S. healthcare workforce for Personalized Medicine. Dr. Kurnat-Thoma provided oral testimony on Genetic Testing Oversight to the DHHS Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS, 2008), served on the SACGHS Genetics Education and Training Task Force (2008-2010), was a White House Fellows’ Program Regional Finalist (2009), and received University of Utah’s Outstanding Doctoral Student Award (2010).

Following her thesis at NIH/NINR Dr. Kurnat-Thoma served in various policy and regulatory roles including: Nurse Consultant to the Department of Homeland Security; Director of Research for URAC, an accreditation organization ensuring quality health system performance for insurance provider clients; and IRB Administrator and Nurse Scientist in a for-profit healthcare system network.

Dr. Kurnat-Thoma has published in Biological Research for Nursing, American Journal of Medical Genetics Part A, Annual Review of Nursing Research, and Journal of Nursing Administration. She published two book chapters (Human Diversity and Variation; Application of Genomics to Pharmacology) for the leading U.S. text in clinical nursing genetics education, Lashley’s Essentials of Clinical Genetics in Nursing Practice, 2nd Ed. She is a grant reviewer for the American Nurses Foundation, was an Editorial Board Member for the peer-reviewed journal American Health and Drug Benefits, and has peer-reviewed articles for a number of scientific journals including The Gerontologist, Biological Research for Nursing, AORN Journal, and the Journal of Obstetric Gynecologic & Neonatal Nursing.

Dr. Kurnat-Thoma’s current work supports the Symptom Science Center and Tissue Injury Branch of NINR’s Intramural Research Program. She is a Postdoctoral Scholar for the American Academy of Nursing’s Genomic Nursing and Health Care Expert Panel, and is conducting a review and analysis of genomic healthcare nursing policy to strengthen the capacity of the U.S.’s ~4 million Registered Nurses to implement Precision Medicine/Healthcare. Her current research emphasis at NIH/NINR is to better understand genomic risk factors contributing to the development of the frailty syndrome in older adults, and how to develop and utilize precision biomarkers that are clinically meaningful within integrated health system networks.

Areas of Expertise/Themes:

Genetics, Genomics, precision medicine/healthcare, Nursing, gerontology, health policy, performance measurement in health systems, healthcare provider education and training.


Day 2: September 12, 2019 | 4:40 PM - 5:00 PM

Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems

Emma Kurnat-Thoma, RN, PhD, National Institutes of Health, National Institute of Nursing Research (NIH/NINR), Bethesda, MD, USA

Introduction: The Precision Medicine (PM) era presents unprecedented proliferation of genetic/genomic information and bioinformatic tools to enhance molecular diagnosis and therapeutic treatments. As of July 12, 2019, the National Institute of Health (NIH) NCBI Genetic Testing Registry contained 60,145 genetic tests for 11,881 conditions and 18,652 genes from 523 labs. Population-based research initiatives including NIH’s All of Us and Veterans Affairs’ Million Veteran Program combined with learning health systems that combine use of genomic biorepositories with electronic medical records [i.e. NHGRI’s electronic Medical Records and Genomics (eMERGE) Network] are driving clinical translation of genomic medicine at a rapid pace.

Problem Statement: There are insufficient medical geneticists and genetics counselors to implement expanding numbers of clinical genetic tests that are required for PM.

Methods: A focused review of current (2015-2019) trends in U.S. genomic medicine translation, health care provider workforce education and training resources, and clinical decision support implementation progress was conducted.

Conclusion and Recommendation: Health care delivery institutions and systems are beginning to implement genetic tests that are driving PM, particularly in the areas of oncology, pharmacogenetics, obstetrics and prenatal diagnostics. To ensure safe adoption and clinical translation of PM, health care systems have an ethical responsibility to ensure their providers and front-line staff are adequately prepared to order, use and interpret genetic test information. There are a number of high-quality, evidenced-based educational resources and clinical decision support tools available. Strong partnerships between health care system leaders and front-line providers, staff coupled with reasonable goal-setting can help drive PM translation interests.