Scientific Contributions

Projects in Progress

eMERGE network logo

Electronic Medical Records & Genomics (eMERGE) Network

I currently serve as the EHR Integration site lead for Vanderbilt University Medical Center (VUMC) on the NHGRI-funded Electronic Medical Records & Genomics (eMERGE) Network. This role involves working directly with VUMC HealthIT to integrate study-generated discrete and non-discrete data, including family history and genomic data, directly into the EHR. The eMERGE study is utilizing MeTree™ for family history assessment, and I am overseeing the implementation of MeTree™ as a SMART on FHIR application at our site. I am also directing the integration of study-generated clinical decision support to the EHR.


Linder JE, Allworth A, Bland ST, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, et al. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 Jan 6;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub ahead of print. PMID: 36621880.

Song J, Forrest N, Gordon A, Kottyan L, Mittendorf KF, Wei WQ, Ramsey-Goldman R, Walunas T, Kho A. Utilization of electronic health record data to evaluate the association of urban environment on systemic lupus erythematosus symptoms. Rheumatology (Oxford). 2022 Nov 16:keac647. doi: 10.1093/rheumatology/keac647. Epub ahead of print. PMID: 36383166.

Family History and Cancer Risk Study (FOREST) 

I am currently acting as a Senior Staff Scientist on the FOREST study, where my role is to serve various needs in the fields of my expertise. I primarily work in the development of analyses plans, study outcomes measurement, and informatics spaces.  In the informatics space of the project my work includes ensuring productive implementation of MeTree™ for family history assessment as a SMART on FHIR application that does not interfere with the MeTree™ implementation in eMERGE (see below). Further, I work on developing data models to track participant interactions. 

Past Projects

CHARM logo, a double helix that evokes two entwined people

Cancer Health Assessments Reaching Many (CHARM)

From 2017-2021, I worked on the Cancer Health Assessments Reaching Many (CHARM) study, a CSER Consortium study funded by the NHGRI with co-funding by NCI. CHARM investigates strategies to improve access to genetic counseling and testing for a diverse group of adults with increased risk of hereditary cancer syndromes. For CHARM, I led the adaptation of two validated, guideline-recommended risk assessment algorithms (PREMM5™ and B-RST™ 3.0) to patient-facing web applications for implementation in the low-literacy, low-resource study population. I led two multi-site workgroups (one for each tool) and an onsite software development team, as well as collaborated with patient stakeholders in an iterative design process. I also led the software development team in their implementation of a web-based informed consent for study-provided genomic testing for those participants who screened at risk. Additionally, I worked with the development team to design and implement a data model supporting data capture of patient interactions with the web-based risk assessment and consent, and provided analytic support for downstream analyses leveraging this data model. I later received a career development supplement to CHARM to evaluate the effectiveness of our adaptations at improving access to risk assessment in our underserved study population. 

Selected publications and presentations:

Mittendorf KF, Kauffman TL, Amendola LM, Anderson KP, Biesecker BB, Dorschner MO, Duenas DM, Eubanks DJ, Feigelson HS, Gilmore MJ, Hunter JE, Joseph G, Kraft SA, Lee SSJ, Leo, MC, Liles EG, Lindberg NM, Muessig KR, Okuyama S, Porter KM, Riddle LS, Rolf BA, Rope AF, Zepp JM, Jarvik GP, Wilfond BS, Goddard KAB, CHARM study team. Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations. Contemp Clin Trials. 2021; 106:106432. PMCID: PMC8336568 

Mittendorf KF, Ukaegbu C, Gilmore MJ, Lindberg NM, Kauffman TL, Eubanks DJ, Shuster E, Allen J, McMullen C, Feigelson HS, Anderson KP, Leo MC, Hunter JE, Sasaki SO, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. Adaptation and early implementation of the PREdiction model for gene mutations (PREMM5™) for Lynch syndrome risk assessment in a diverse population. Fam Cancer. 2021. PMCID: PMC8458476

Mittendorf KF, Knerr S, Kauffman TL, Lindberg NM, Anderson KP, Feigelson HS, Gilmore MJ, Hunter JE, Joseph G, Kraft SA, Zepp JM, Syngal S, Wilfond BS, Goddard KAB. Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities. JCO Precis Oncol. 2021 Nov 3;5: PO.21.00233. eCollection. PMCID: PMC8585306

Kraft SA, Porter KM, Duenas DM, Guerra C, Joseph G, Lee SS, Shipman KJ, Allen J, Eubanks D, Kauffman TL, Lindberg NM, Anderson K, Zepp JM, Gilmore MJ, Mittendorf KF, Shuster E, Muessig KR, Arnold B, Goddard KAB, Wilfond BS. Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study. AJOB Empir Bioeth. 2021; 12;1-11. PMCID: PMC7785634.

logo for clingen, an infinity symbol that looks like DNA

Clinical Genome Resource (ClinGen)

From 2017-2021, I was a member of the Clinical Genome Resource (ClinGen) Actionability Working Group. In this role, I assisted with adaptation of an actionability protocol from the adult setting to the pediatric setting. These protocols outline a standardized process to identify and synthesize evidence regarding the clinical actionability of genes and disorders associated with secondary findings during genetic testing. I applied both protocols to curate reports that were scored by experts and disseminated to the public on I also applied my experience with structured genomic data models and ontologies to provide user specifications for the actionability curation interface. The results of this work are used by the ACMG Secondary Findings WG and the Centers for Disease Control to provide professional recommendations about the return of secondary findings to patients undergoing genome-wide sequencing in both the adult and pediatric settings.

Selected publications and presentations:

Paquin RS, Mittendorf KF, Lewis MA, Hunter JE, Lee K, Berg JS, Williams MS, Goddard KAB. Expert and lay perspectives on burden, risk, tolerability and acceptability of clinical interventions for genetic disorders. Genetics in Medicine 2019 Apr 26. PMCID: PMC6815237

Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan‐Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NM, Weaver MA, Williams MS, Evans JP, Goddard KAB, on behalf of the ClinGen Resource. Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. Human Mutation 2018;39:1677–1685. PMCID: PMC6211797 

Mittendorf KF, Paquin RS, Lewis MA, Zulkiewicz BA, Lee K, Nyongesa DB, Leo MC, Berg JS, Williams MS, Goddard, KAB. Clinician Versus General Population Perceptions of the Nature of Clinical Interventions for Delaying or Preventing Outcomes Related to Inherited Conditions. (Poster Presentation). ACMG; April 10-13, 2018; Bethesda, MA.

3D illustration of cells dividing

Translational Genomics in Sporadic Cancer

Under Drs. Mia Levy, Travis Osterman, and Christine Micheel, I received training in bioinformatics applications in somatic cancer genomics and contributed to enhancing data models supporting structured curation of biomarker-driven assertions that power the public-facing resource My Cancer Genome (MCG), a website that is viewed 8,000 times a week by individuals in 211 countries and territories around the world. Our data model was used in partnership with GenomeOncology’s Workbench services, where it powered the generation of over 40,000 interpretative reports for 31 academic medical centers and commercial labs licensing these services. This content was made available through APIs for use in electronic health records as well as in generation of molecular pathology interpretive reports. I also worked with an expert interdisciplinary team to develop a clinical molecular oncology consult service to increase access to personalized medicine for patients seeing Vanderbilt-affiliated community oncologists. Finally, I contributed to two Moonshot to Cure Cancer working group documents. I have now returned to this team to collaborate on the development of informatics- and knowledge-driven clinical decision support at VUMC.

Selected publications and presentations:

Holt ME, Mittendorf KF, LeNoue-Newton M, Jain NM, Anderson I, Lovly CM, Osterman T, Micheel CM, Levy MA. My Cancer Genome: coevolution of precision oncology and a molecular oncology knowledgebase. JCO Clinical Cancer Informatics. 2021. 5:995-1004. DOI: 10.1200/CCI.21.00084

Neha J, Mittendorf KF, Holt M, Lenoue-Newton M, Maurer I, Miller C, Stachowiak M, Botyrius M, Cole J, Micheel C, Levy M. The My Cancer genome clinical trial data model and trial curation workflow. J Am Med Inform Assoc. 2020. 27:1057-1066. PMCID: PMC7647323

Levy M, Micheel C, Jain N, Mittendorf K. Assessment of actionability of cancer genomic testing panels based on a structured clinical trial knowledge base. Journal of Clinical Oncology 35, no. 15_suppl (May 20 2017) 6533-6533. Published online May 30, 2017. DOI: 10.1200/JCO.2017.35.15_suppl.6533 

Levy M, Osterman T, Jain Neha, Mittendorf K, Micheel, C. Utility of adding clinical data to a molecular results portal for improving clinical trial prescreening efficiency. Journal of Clinical Oncology 35, no. 15_suppl. [Epub 2017 May 30] DOI: 10.1200/JCO.2017.35.15_suppl.e18182

A hand holding a syringe in front of a 3D illustration of a virus

Vaccine Safety Datalink

I have participated in the CDC-funded Vaccine Safety Datalink (VSD) project at the Research Associate III and co-investigator levels at the Kaiser Permanent Northwest site. I was actively involved in workgroups and proposal development that addressed safety outcomes associated with adolescent vaccination. In this role, I have contributed to the development of two VSD proposals and designed the data model for evaluation of outcomes for one of these funded proposals. I also contributed to work on the association of primary ovarian insufficiency/infertility with adolescent vaccinations, published in Pediatrics.


Naleway AL, Mittendorf KF, Irving SA, Henninger ML, Crane B, Smith N, Daley MF, Gee J. Primary ovarian insufficiency and adolescent vaccination. Pediatrics. 2018 Sep;142(3). pii: e20180943. doi: 10.1542/peds.2018-0943. [Epub 2018 Aug 21]. PMCID: PMC6719304

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