Department of Translational and Applied Genomics (TAG)

The CHARM (Cancer Health Assessments Reaching Many) study assesses how clinical exome sequencing fits into and affects health care for patients from diverse backgrounds. Our study population includes adults who are at risk for hereditary cancer syndromes. The goal is to implement a hereditary cancer risk assessment program for healthy 18-49 year-olds seen in primary care in two different settings: an integrated health delivery system (Kaiser Permanente) and a federally qualified health center (Denver Health).

We assess how clinical exome sequencing is implemented and interpreted. We also test new processes tailored for patients with low health literacy, including a new informed consent process, and a modified approach to learning about test results and genetic counseling. We assess the health care services people receive and how well people follow up with recommended care after receiving both primary and additional results from clinical exome sequencing. We also evaluate ethical and policy questions related to how genomic information may impact decisions about health care coverage. 

This work is funded as part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium funded by the National Human Genome Research Institute with co-funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the National Cancer Institute (NCI) through U01HG007292 (MPIs: Wilfond, Goddard/Leo), with additional support from U24HG007307 (Coordinating Center). This project is on clinicaltrials.gov under NCT number: NCT03426878.

Quicklinks

Study Website
CHARM Newsletter

Contact Us

Michael Leo
Email: Michael.C.Leo@kpchr.org

ClinGen was founded in 2013 by the National Human Genome Research Institute and represents a collaborative effort of the genetics community to establish an evidence-based resource to assess the clinical relevance of genes and variants. It involves three grants and thousands of contributors worldwide. The KPNW team leads the Actionability Working Group, which has the overarching goal of assessing the clinical (real-world health care) actionability of those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.

Quicklinks

Study Website

Contact Us

Joanna Bulkley
Email: Joanna.E.Bulkley@kpchr.org

The Connect for Cancer Prevention Study wants to better understand the causes of cancer and how to prevent it. Kaiser Permanente Northwest (KPNW) Center for Health Research is one of nine health care systems throughout the country to partner with the National Cancer Institute (NCI), part of the National Institutes of Health (NIH), for Connect. The study will include 200,000 adults who get their health care from a partner health care system, are between 40 and 65 years old at enrollment, and have never had cancer. People who have or once had non-melanoma skin cancer, or a condition that raises the risk of getting cancer (such as DCIS, or stage 0 breast cancer), can still join. 

Participants will be asked to answer online health surveys, donate samples of blood, urine, and saliva, and share access to their electronic health records. This information will help researchers study the health and behavior patterns that may affect cancer risk.  

Quicklinks

Study Website
clinicaltrials.gov 

Contact Us

Mark Schmidt
Email: Mark.A.Schmidt@kpchr.org

COVID-19 is a serious public health problem and a global pandemic. People infected with COVID-19 experience extremes in symptoms, ranging from no symptoms at all to severe symptoms that require hospitalization, including difficulty breathing and heart problems, which can be fatal. The goal of this study is to compare biomarkers, such as genetic differences in people with COVID-19, to understand how these biomarkers may influence symptoms. Anyone who has tested positive for COVID may be eligible to join. People in this study will provide a blood sample, fill out a brief health questionnaire, and be contacted to share symptom updates for 30-60 days. We hope to use what we learn to help develop therapies to reduce the severity of COVID-19 symptoms.

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Shelia Weinmann
Email: 
Sheila.Weinmann@kpchr.org

An estimated 15% of ovarian cancer patients carry a gene change associated with an increased risk of cancer. Thus, guidelines in 2019 recommended that all patients with ovarian cancer be offered genetic counseling and testing. However, patients diagnosed with ovarian cancer before these recommendations took effect could also benefit from knowing their genetic risk. The GRACE study will use a “traceback” approach to offer patients and their families genetic testing to identify gene changes associated with a higher cancer risk. We will identify and contact patients who were members at KPNW or KP Colorado at the time of their ovarian cancer diagnosis who could benefit from genetic counseling and testing. We will begin with the patient’s tissue from their cancer surgery, which is preserved and cataloged. We will ask for permission to perform genetic testing on this tissue. 

We will also interview up to 20 family members to assess their perspectives on the risks and benefits of genetic testing and their preferences about genetic testing for a deceased family member. We will also offer genetic testing to the relatives of patients found to have the gene change associated with an increased risk of cancer. The GRACE study will give patients and their family members important information about their cancer risk that they otherwise would not have.

Contact Us

Sheila Weinmann
Email: Sheila.Weinmann@kpchr.org

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
Email: Jessica.E.Hunter@kpchr.org

The Kaiser Permanente Research Bank (KPRB) is the second largest biobank in the U.S. and one of the most diverse in terms of participants. A biobank stores biological samples that volunteers have shared for use in research. Eight KP regions from across the U.S. have recruited health plan members to join the KPRB, which contains blood and saliva samples, as well as patient data for over 350,000 individuals. When they join, participants agree to broad use of their data for health research, including their biospecimens, electronic health record data, survey data, and genomic data. 

The KPRB includes a general population of over 343,000 participants and two special populations: a cancer group with over 9000 participants, and a pregnancy group with over 25,000 participants. The KPRB enables researchers to discover and learn more about genes and proteins that impact a variety of diseases. It also enables researchers to study the usefulness of specific genomic tests and services in the real world. By linking patients’ genetic data to their health records, the KPRB is making it possible to carry out studies that will ultimately improve patient care. The KPRB welcomes KP members 18 years or older to join.

Quicklinks

• Study Website for Researchers
• Research Bank Video - Journey of the Sample

Contacts

Shelia Weinmann
Email: Sheila.Weinmann@kpchr.org

This study uses KPNW’s pathology specimens and associated clinical data to validate a commercial test for patients diagnosed with ductal carcinoma in situ (DCIS) of the breast. The goal of the test is to stratify patients into risk categories to help guide treatment choice.

Contact Us:

Shelia Weinmann
Email: Sheila.Weinmann@kpchr.org

Starting in March 2018, Medicare implemented a policy that covers genome-scale sequencing for patients with recurrent and advanced cancer. The study will leverage the Virtual Data Warehouse across six Health Care Systems Research Network (HCSRN) sites to evaluate the consequences of Medicare's coverage of next-generation sequencing for patients with recurrent, relapsed, refractory, metastatic, or advanced stage III or stage IV cancer. This study is funded by the National Human Genome Research Institute. Chris Lu at Harvard Pilgrim is the Study PI; Jessica Ezzell Hunter is the CHR Site PI.

Contact Us

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

This study is a collaboration between CHR and investigators at Albert Einstein College of Medicine. The goal is to develop tools to identify those breast cancers that are likely to spread (metastasize) so that they may be treated with chemotherapy, while avoiding unnecessary and toxic treatment for women with less dangerous cancers. Using clinical data and tumor tissue from breast cancer patients at KPNW who were diagnosed in the past (from 1980-2015), we will examine the risk of distant metastasis (cancer spreading to a new site) associated with specific new tumor markers, the TMEM score developed in earlier work, and combinations of these markers. We will also examine risk of distant metastasis associated with established markers and with the TMEM score in comparison to and in addition to the established markers.

Contact Us:

Shelia Weinmann
Email: Sheila.Weinmann@kpchr.org