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Genomics Translation

Genomics Translation Projects


Key Achievements for Year 2 (October 2009—September 2010)

Genomics Programs Key Achievements

Family History Education to Improve Genetic Risk Assessment for Cancer

Project Director: Maren Scheuner, MD, MPH, FACMG, VA Greater Los Angeles Health Care System, HSR&D Center of Excellence for the Study of Healthcare Provider Behavior

  • Started a pilot test in April 2010 of a new family history reminder/template for providers to use to document family history of cancer in the electronic medical record, along with a corresponding patient-administered questionnaire.

    • As of November 2010, 600 patients had completed the template and 50 genetic consults had been requested, and the individual clinicians involved in the pilot test received a quarterly practice feedback report.
  • Developed and administered a survey to assess baseline clinician knowledge related to familial and genetic risk assessment for hereditary cancers.
    • Baseline clinician knowledge was low, with an average correct score of 55%.
  • The survey results informed the development and delivery of a seven-part CME-approved lecture series on risk assessment for hereditary cancer syndromes at West Los Angeles and Sepulveda Veterans Administrations.
    • An average of eight clinicians attended each lecture and received patient materials on the importance of family history and what to expect from a genetic consultation, and a clinician information sheet on when to refer patients for a genetic consultation.

Pharmacogenomics Education Program: Bridging the Gap Between Science and Practice

Project Director: Grace Kuo, PharmD, MPH, PhD, University of California, San Diego (UCSD)
  • Collaborated with four professional organizations and presented pharmacogenomics to more than 51,000 health care professionals through 19 live and two webinar sessions; collected over 600 surveys from participants.
  • Implemented two online Continuing Medical/Pharmacy Education (CE) modules, reaching over 2,100 views for Module I and 1,200 views for Module II. An additional 250 pharmacists completed CE credits from a written module.
  • Disseminated pharmacogenomics CE modules through one live and three webinar Healthcare Practitioner Train-the-Trainer sessions, reaching more than 20 participants representing 13 healthcare organizations. Online webinars have received over 300 views.
  • Developed nine shared curriculum modules for faculty from health professional schools.  Conducted, recorded and posted seven online train-the-trainer webinars, reaching more than 100 faculty participants through the live sessions and 1,300 views of the recorded webinars. Over 40 schools (representing 36% of U.S. schools of pharmacy) plan to use the modules in their curriculum during the 2010-2011 academic year.
  • Updated the PharmGenEd™ Web site, which has received more than 5,000 visitors, with 8,000 visits and 53,000 page views to date. There are 800 registrants and listserv members.
  • Published three peer-reviewed articles in Pharmacy Today, Journal of the American Pharmacists Association, and the American Journal of Pharmaceutical Education.

Promoting Cancer Genomics Best Practices Through Surveillance, Education, and Policy

Project Director: Janice Bach, MS, CGC, Michigan Department of Community Health

  • Identified cancers with a possible hereditary component by analyzing Michigan Cancer Surveillance Registry data.
    • Between 1990‐2006, Michigan identified 25,703 early onset female breast cancer cases; 3,314 early onset endometrial cancer cases; 989 male breast cancer cases; 92,635 colorectal cancer cases; and, 14,329 ovarian cancer cases.
    • Multiple primaries have also been analyzed for several different combinations with the most common being 5,634 females with two breast cancer diagnoses and 4,369 individuals with two or more colorectal cancer diagnoses.
  • Created a network of 12 cancer genetics clinics to provide de‐identified data on all patients seen for BRCA counseling in the state of Michigan by a board‐certified genetics provider since October 2007.
    • To date, de‐identified data on 3,500 patients have been submitted with BRCA test results reported on over 2,500 patients.
  • Partnered with MDCH Behavioral Risk Factor Survey (MiBRFS) and MDCH Cancer Prevention and Control Section to analyze existing data from the 2008 Michigan BRFS data to identify the number of Michigan women needing cancer genetic services.

Education Outcomes:

  • Created and copyrighted the Cancer Family History Pocket Guide© [PDF 147.49 KB], a hand held tool for providers that assists with risk assessment and referral guidelines for patients with a family history of breast, ovarian, colorectal and endometrial cancer.
    • In Year 2, over 2,400 tools have been disseminated nationwide.
  • Collaborated with the Michigan Cancer Surveillance Program to create the first bidirectional reporting system that highlights population‐based cancer genomics data for clinical providers.
    • In Year 2, distributed individualized facility‐specific data reports to 60 of the 179 cancer reporting facilities, highlighting the number of early‐onset breast, early‐onset endometrial, male breast, colon, ovarian and multiple primary cancer cases diagnosed/treated. The reports included evidence-based cancer genomics recommendations (2005 USPSTF for BRCA and 2009 EGAPP for Lynch syndrome), a directory of cancer genetic providers, and relevant MDCH resources to increase providers’ cancer genomics competency.

Policy Outcome:

  • Increased the number of Michigan health plans that have BRCA coverage consistent with U.S. Preventive Services Task Force recommendations from 4 to 9 out of 24 plans. In effect, this extends health insurance coverage for genetic risk assessment for hereditary breast and ovarian cancer to over 6.3 million Michigan residents.

Oregon Genomics Surveillance Program: Translation of Genomic Applications into Health Practice

Project Director: Katherine Bradley, PhD, RN, Oregon Department of Human Resources

Data from the Oregon State Cancer Registry (OSCaR), Oregon census data, and information from the literature were used to estimate the prevalence of BRCA and MMR mutations in the Oregon adult population, the prevalence of BRCA and MMR mutations among Oregonians diagnosed with cancer, and the number of adult Oregonians diagnosed with cancer that may benefit from genetic services. These data were also used to examine the geographic distribution of early-onset cancers associated with BRCA and MMR mutations.

  • Carrier prevalence is estimated to be ~17,000-~24,000 BRCA mutation carriers and ~1,700-5,600 MMR mutation carriers in the Oregon population.
  • Of those diagnosed with cancer, between 1997 and 2006 and who were still alive December 31, 2007, 829-926 were estimated to have a BRCA mutation and 390-422 were estimated to have a MMR mutation.
  • Each year, approximately 1,161 women with cancer are at high risk for having a BRCA mutation, and 538 people with cancer are at high risk for having a MMR mutation. These individuals, who can be identified in OSCaR, are candidates for genetic counseling and genetic testing.
  • Cancer incidence rates varied among a few counties in Oregon, but not enough to warrant county-specific interventions.
  • Analyzed 2007 Oregon Medicaid client encounter data to assess the utilization of cancer genetic testing to help determine disparities in access to genetic testing, the effect of new cancer genetic testing guidelines, and if analysis of encounter data could lead to the accurate assessment of cancer genetic testing. Genetic testing for breast, ovarian, or colorectal cancer appears to have been significantly underutilized in this population, with possibly up to seven cancer genetic tests being done. No BRCA or MMR tests were done in clients without cancer or symptoms of cancer.
  • In 2007 and 2008, Oregon's seven cancer genetics clinics saw 1,716 patients. Eighty-three percent were seen for breast or ovarian cancer, 13% were seen for colorectal cancer or endometrial cancer, and 4% were seen for other cancers, such as prostate cancer. Six of the seven clinics were able to abstract and analyze de-identified patient cancer genetic testing data (for 892 patients). In these six clinics, 60% of breast and ovarian cancer patients had BRCA testing, and 47% of colorectal and endometrial cancer patients had MMR testing. The findings from this project confirm that only a small fraction of the estimated 19,500 to 28,500 Oregonians with a BRCA or MMR mutation, and even a smaller proportion of Oregonians with a family history indicating referral for genetic counseling, are seen by a genetics specialist.
  • A quantitative survey was developed, piloted, and administered to a representative sample of Oregon health care practitioners, including MDs, DOs, NPs, and PAs, in primary care, OG/GYN, oncology, and surgery. The survey asked questions related to their use of family history for risk assessment, prevention, screening, genetic testing, and referral to clinical genetics specialists. Approximately 2,000 surveys were administered, and the response rate was 57.4%.
  • Submitted a paper to Preventing Chronic Disease journal entitled "Family History of Colorectal Cancer: A Predictor of Clinicians' Preventive Recommendations and Patient Behavior," which uses the Oregon 2008 BRFSS findings to examine the effect of family history of colorectal cancer on health care provider practice, patient screening, and patient preventive behavior.



Genomics Research Key Achievements

Risk-Benefit Framework for Genetic Tests

Principal Investigator: David L. Veenstra, PhD, PharmD, University of Washington

Year 2 Project Highlights

  • Published a manuscript titled “A formal risk-benefit framework for genomic tests: facilitating the appropriate translation of genomics into clinical practice” in Genetics in Medicine (Veenstra et al, doi: 10.1097/GIM.0b013e3181eff533) describing a framework to systematically and quantitatively assess the potential benefits and harms of genomic technology.
  • Presented work on a risk-benefit framework to evaluate gene expression profiling in women with early‐stage breast cancer at the 15th annual international meeting of the International Society for Pharmacoeconomics and Outcomes Research and the 32nd annual meeting of the Society for Medical Decision Making.
  • Held an Interdisciplinary Oncology Practitioner workshop in July 2010 with a group of practitioners to inform the development of a risk-benefit framework to evaluate gene expression profiling in early-stage breast cancer.
  • Developed an interactive Excel-based framework to facilitate systematic and quantitative evaluation of the potential benefits and harms of gene expression profiling to inform adjuvant chemotherapy decisions in early-stage breast cancer.
  • David Veenstra and Lou Garrison participated in the “Pharmacogenomics Education Program: Bridging the Gap between Science and Practice" (PharmGenEd™) webinar series, presenting on the topic of economic issues and pharmacogenomics.

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