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Department of Translational and Applied Genomics (TAG)

Research | Completed Studies

CHARM: Cancer Health Assessments Reaching Many

CHARM team
Group Photo: Left front: Kate Mittendorf, Liz Shuster, Charisma Jenkins, Sandra Lee, Benjamin Wilfond, Katrina Goddard, Nangel Lindberg, Katie Porter, Gail Jarvik, and Robin Daily; Middle Right to left: Heather Feigelson, Frances Lynch, Mari Gilmore, Michael Leo, Tia Kauffman, Galen Joseph, Alan Rope, Jessica Ezzell Hunter, Laura Amendola, Meredith Vandermeer, and Katy Anderson; Back left to right: Carmit McMullen, John Dickerson, Beth Liles, and Michael Dorschner; CHR staff not pictured: Joanna Bulkley, Jake Allen, Ana Reyes, Jamilyn Zepp, Donna Eubanks, and Kristin Muessig

The CHARM (Cancer Health Assessments Reaching Many) study assessed the utility of clinical exome sequencing and how it affects care in diverse populations. Our study population included adults at risk for hereditary cancer syndromes. The primary objective was to implement a hereditary cancer risk assessment program in healthy 18-49 year-olds in primary care settings within a vertically integrated health delivery system (Kaiser Permanente) and a federal qualified health center (Denver Health). We assessed clinical exome sequencing implementation and interpretation, as well as tailored interactions for low health literacy including a contextualized consent process, and a modified approach to results disclosure and genetic counseling. We also assessed the clinical utility (healthcare utilization and adherence to recommended care) and personal utility of primary and additional results from clinical exome sequencing and evaluated the ethical and policy implications of considering personal utility of genomic information decisions for health care coverage.

More information about the study protocol can be found here PMCID: PMC8336568, DOI: 1016/j.cct.2022.106682, and main results were published here: DOI: 10.1016/j.gim.2022.02.006.

Quicklinks

Study Website
CHARM Newsletter

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Michael Leo
Michael.C.Leo@kpchr.org

CERGEN: The Comparative Effectiveness Research in Genomics of Colon Cancer

CYP2D6

DCEG Pilot: Division of Cancer Epidemiology and Genetics Pilot for the Connect Study

FRESH: Find Results in Epic Some How

The objective for this study is to conduct preliminary work to develop future grant proposals in the areas of direct to consumer (DTC) genetic testing and genetic testing for familial hypercholesterolemia (FH). This study investigated ways to find these patients, what happened to them and searched for preliminary information e.g., on how common DTC was at the time, which tests were conducted, if and how patients shared results with providers. This research helped to establish the scale of the problem, and the kinds of guidance physicians need addressed in terms of how to act upon receiving DTC information.

Genetics of COVID Study

HEIRS: Hemochromatosis and Iron Overload Study

The HEIRS Study evaluated the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of hemochromatosis and iron overload in a multiethnic, primary care-based sample of 100,000 adults over a 5-year period. Participants were recruited from 5 Field Centers. Including KPNW.

References: PMID: 15858186 and PMID: 17949288

GeneScreen Pilot

The purpose of this study was to gather feasibility information through pilot testing and studying the results of targeted genomic screening among KPNW Biobank subjects using web-based recruitment, consent, and survey procedures. The study explored Ethical, Legal, and Social Implications (ELSI) in preventive genomic screening in participating asymptomatic adults, including genomic testing knowledge, personal and family medical history, history of compliance with medical screening and prevention, genetic testing beliefs and attitudes, understanding the GeneScreen test and possible results, hopes and expectations of the GeneScreen test, and thoughts/plans about communicating screening results to family. The published results can be found here: DOI: 10.1159/000481359, DOI: 10.1038/s41436-018-0061-1, DOI: 10.2217/pme-2019-0067.

GenomeDx

HipPPI

HNPCC: Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

Colon cancer tumor screening for Lynch Syndrome (aka Hereditary Non-Polyposis Colorectal Cancer, or HNPCC) was universally recommended starting in 2009. The HNPCC study evaluated the effectiveness of universal lab test-based screening compared to the current practice of physician-based referral or self-referral for Lynch Syndrome evaluation. The study recruited KPNW members over age 18 diagnosed with colorectal cancer during the study period from 2010 to 2015. At the end of the study, universal screening for LS was implemented in our region. The study and results are described here: PMC6685685, PMC4560979, PMC4608844, and PMC5958898

IMPULSS

Implementing Universal Lynch Syndrome Screening Across Multiple Healthcare Systems

CHR Study Team: Jessica Ezzell Hunter, Sara Gille, Jennifer Schneider, James Davis, and Alison Firemark

Collaborating Sites: Geisinger, Kaiser Permanente Northwest (KPNW), Kaiser Permanente Colorado (KPCO), Sutter Health, Meyers Primary Care Institute, HealthPartners, Harvard Pilgrim Healthcare, Catholic Health Initiatives

Screening tumors from all newly diagnosed cases of colorectal cancer for Lynch Syndrome (LS), an inherited cancer syndrome, has been recommended since 2009, but this screening remains variable across health care systems in the U.S. The Implementing Universal Lynch Syndrome Screening (IMPULSS) study, funded by NCI’s Cancer Moonshot Initiative, involves eight health care systems. The goal of this study is to describe and explain variation in Lynch syndrome screening across varying health care systems to identify which factors are important for implementing successful screening programs. The study will also create a toolkit to promote effective screening in diverse health systems. Our goal is to prevent the needless suffering of patients and their family members from preventable cancers, and to inform strategies to make the promise of precision medicine a reality.

Contact Us

Jessica Ezzell Hunter
Jessica.E.Hunter@kpchr.org

KSC: Knowledge Synthesis Consortium

NextGen: Clinical Implementation of Carrier Testing using Next Generation Sequencing

NWBB: Kaiser Permanente Northwest BioBank

The Northwest BioBank was a research project that involved storage and use of blood and information of consented adult KPNW members. Recruitment for the Northwest BioBank has ended. We invited adult KPNW members to give consent and contribute a blood specimen to a Biobank for future genomic research. When the consented members had their next regular blood draw, the left-over blood was collected and stored at the Northwest BioBank. The Northwest BioBank has transitioned to the Kaiser Permanente Research Bank [Kaiser Permanente Research Bank - Kaiser Permanente], read more under Current Studies.

OCTRI: Oregon Clinical and Translational Research Institute

Former research liaison between Oregon Health & Science University and Kaiser Permanente Center for Health Research

Pause ASD

PCa/Ambry: Genetic Determinants of Early Onset and/or Clinically Aggressive Prostate Cancer (PCa)

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Kaiser Permanente identifies financial conflicts of interest (FCOI) and other situations that may give rise to conflicts of interest, and addresses such situations to ensure research decisions made are in the best interests of KP, its research participants, patients, and members. Kaiser Permanente operates in accordance with federal regulations addressing research financial conflicts of interest through our Policy on FCOI in Research.