PH Reporting User Story – Cancer Genetics: BRCA
1.1 Introduction
Inherited mutations in the BRCA1 and BRCA2 genes are believed to be
responsible for approximately 5-10% of all breast cancer cases and over 5% of ovarian
cancer cases in the United States, and these cancers often occur at a relatively young age.
Those with deleterious mutations have a variety of interventions available, including
earlier and intensive surveillance, chemoprevention, and prophylactic mastectomy and/or
oophorectomy. The potential reduction in mortality with appropriate intervention has
lead to national recommendations for genetic counseling and testing. The United States
Preventive Services Task Force (USPSTF) has recommended that “women whose family
history is associated with an increased risk for deleterious mutations in BRCA1 or
BRCA2 genes should be referred for genetic counseling and evaluation for BRCA
testing.” (Grade B recommendation) The USPSTF also recommends against routine
referral for women whose family history is not associated with increased risk. The
National Comprehensive Cancer Network (NCCN) has guidelines that encompass both
counseling and testing based on family and personal cancer history.
Since 2008 the Michigan Department of Community Health (MDCH) Cancer
Genomics Program has developed methods to promote the translation of evidence-based
recommendations into clinical and public health practice as part of a cooperative
agreement with the Centers for Disease Control and Prevention (CDC). This enabled
MDCH to recruit all cancer genetics clinics offering genetic counseling by a boardcertified provider in Michigan to participate in a network sharing de-identified data on
patients presenting for BRCA counseling. This database now includes over 5,800
patients seen within the period of October 1, 2007 to March 31, 2011.
In October 2011, MDCH began a new three-year cooperative agreement with the
CDC’s Division of Cancer Prevention and Control which will allow for sustained and
expanded data collection utilizing the BRCA database. This award is part of a broader
effort by CDC to support the Education and Awareness Requires Learning Young
(EARLY) Act, section 10413 of the Patient Protection and Affordable Care Act (Public
Law 111-148). The EARLY Act authorizes CDC to develop initiatives to increase
knowledge of breast health and breast cancer among women, particularly among those
under the age of 40 and those at heightened risk for developing the disease. The purpose
of the program is to assist the adoption of evidence-based recommendations for breast
cancer genomic tests and other related interventions into health practice in a manner that
maximizes health benefits and minimizes harm to individuals and populations. This
program addresses the ‘Healthy People 2020’ focus areas of Genomics and Cancer:
 G-1 Increase the proportion of women with a family history of breast and/or
ovarian cancer who receive genetic counseling
 C-1
Reduce the overall cancer death rate
 C-3
Reduce the female breast cancer death rate
 C-11 Reduce late-stage female breast cancer
1.2 User Story Narrative
1.2.1 Goal
The ultimate goal of MDCH’s project is a reduction in breast cancer deaths at a
young age and a reduction in ovarian cancer deaths in Michigan. The MDCH Cancer
Genomics Program emphasizes using data for action with public health surveillance
being central to policy and education activities. The current four program goals are
supported through Michigan’s BRCA genetic counseling and testing surveillance data.
1. Promote adoption of health plan policies to increase coverage of BRCA clinical
services for high risk women
2. Increase health care provider knowledge and use of BRCA clinical practices
recommended by USPSTF and NCCN
3. Expand surveillance of BRCA clinical practices to include counseling by a boardcertified provider, testing, and related surgeries.
4. Utilize data to inform clinical best practices, promote policy change, conduct
program evaluation, and disseminate findings.
The evaluation of clinical best practices and national recommendations is
especially important for healthcare practitioners. Many individual providers see a limited
number of patients with deleterious BRCA mutations and must rely on recommendations
for evidence-based practice. Most testing is done through Myriad Genetics, and there is a
need for independent evaluation of testing strategies.
1.2.2 Description of Data Reporting Events, Actors and Triggers
The BRCA database is currently used as an off-line Microsoft Access database.
Manual data entry is completed by staff from each genetics clinic providing BRCA
genetic counseling by a board-certified provider to patients residing in Michigan. All
patients seen for this type of genetic counseling within the period of October 1, 2007 to
March 31, 2011 are included in the data entry, and pertinent information is obtained from
the medical record of patient counseling visits. While the database does include genetic
testing information, patients are included based on the event of a genetic counseling visit,
regardless of whether testing was pursued.
While the majority of contributing institutions do have electronic medical records
containing most of the required information, we have not been able to coordinate
automatic data transfers to the BRCA database because of the time and expense needed
for this type of technology. Data compiled in the Access database is mailed or emailed
from each individual institution to MDCH approximately every six months. MDCH’s
Clinical Cancer Genetics Epidemiologist then compiles the data into an aggregate Access
database, runs data checks for cleaning, and communicates with each site about questions
arising from this process.
MDCH is in the process of converting this data collection system into an online
database. This would enable real-time collection of data from multiple sites without
requiring data transfers.
This data is used for a variety of activities and is a measure of Healthy People
2020 goal G-1. It allows us to assess the population accessing genetic counseling and
testing in terms of demographics, family and patient history of cancer, insurance status
and type, and referring provider. Information on why some patients do not pursue testing
has helped identify barriers to testing such as insurance coverage, and has also
demonstrated the importance of genetic counseling in determining the need for testing
and for recommending appropriate testing strategies. This data is important from a costeffectiveness perspective. Data on insurance coverage has been important in Michigan’s
health policy work with insurers, provides evidence of coverage gaps and is a means of
evaluating the program’s impact in this area. Statistics from the BRCA database are used
in presentations, handouts, and publications intended for provider education. The
information on genetic tests and results is an important resource for evaluating testing
strategies and recommendations for referral to genetic counseling and testing. Finally,
this database allows us to evaluate the impact of a variety of policy, education and
surveillance efforts surrounding BRCA and the prevention of hereditary cancers.
1.2.3 Data
Data currently collected on BRCA counseling and testing includes the following items:
Demographics
-De-identified patient code
-Zip code of residence
-Clinical institution where the patient was seen for counseling
-Type of referring physician (family practice, obstetrics, etc.)
-Gender
-Race
-Second Race (multiracial patients)
-Other race (fill in the blank for those other than listed options)
-Birth year
-Whether the patient is of Ashkenazi Jewish heritage
-Whether there is a known BRCA mutation in the patient’s family
-Number of third-degree relatives with cancer
-Whether the patient’s family history meets USPSTF guidelines (automatically calculated
by database)
Counseling visit information
-Date of counseling visit
-Counseling visit type – initial or follow-up
-Insurance type, including private insurance, Medicaid, and/or Medicare
-Reason if BRCA genetic testing not pursued
Cancer and genetic risk assessments
-Date of assessment
-Assessment type (BRCA PRO, GAIL, and Myriad risk models)
-Assessment score
BRCA genetic tests
-Test date
-Test type (comprehensive, BART, Ashkenazi, or site-specific BRCA tests)
-Other test type (fill in the blank if not in ‘Test Type’ drop down list)
-Result of test (positive, negative, or variant)
-Result date
Patient Cancer History
-Date cancer history recorded
-Cancer type
-Age at diagnosis
Relatives’ cancer histories
-Relative relationship to patient
-Date cancer history recorded
-Cancer type
-Age at diagnosis
Data elements to be added to the online database:
-Whether the patient’s personal and family history of cancer meets NCCN guidelines
(automatically calculated by database)
-Patient history of surgery (mastectomy or oophorectomy)
-Timing of surgery (before after counseling/testing)
-Reason for surgery (prophylactic, cancer treatment, other)
1.2.4 Other Information
While only Michigan is currently using the BRCA database on a statewide level,
several other academic institutions and state health departments have expressed interest
in beginning their own data collection using both the Access and web versions of the
database. In the last three months, the Access version of the database has been
disseminated free of charge to five states at their request. Many more institutions have
expressed interest in using an online database, including the states of Ohio and Georgia.
Both Ohio and Georgia would like to be able to share a single web-based database with
Michigan, but funding and data access restraints may require separately hosted online
systems for each state. We are currently exploring both of these options to determine
costs and feasibility.
In addition, Ohio is planning to develop an online database for Lynch Syndrome,
a hereditary cancer syndrome conferring increased risks for colorectal, endometrial, and
other cancers. The Lynch Syndrome project is projected to be completed before June
2012 and will be based on the framework of the current BRCA database. Ideally, users
of the online BRCA database will have access to a single online data entry system which
will allow them to enter both BRCA and/or Lynch Syndrome patients.
There is interest in eventually creating a single data entry system that
encompasses a variety of inherited cancer syndromes and could be shared with multiple
state health departments and other entities.
1.3 Stakeholder Commitment
Fourteen clinical sites in Michigan are participating in MDCH’s 3-year
cooperative agreement with the CDC, which ends in 2014. Many of these sites have
expressed interest in continuing this database and publishing results from the data
collected. It is anticipated that as findings are published, more states will be interested in
beginning similar collection systems and will look to MDCH for guidance. MDCH
Genomics in partnership with the CDC is committed to continuing this data collection
system until 2014.
1.4 Contact Information
Please contact Sarah Mange or Janice Bach for questions and further communications
related to this proposal.
Sarah Mange, MPH
Clinical Cancer Genetics Epidemiologist
Division of Genomics, Perinatal Health, and Chronic Disease Epidemiology
Michigan Dept. of Community Health
201 Townsend
PO Box 30195
Lansing, MI 48909
Phone: (517) 373-2929
Fax:
(517) 335-9790
MangeS@michigan.gov
Janice Bach, MS, CGC
Acting Division Manager
Division of Genomics, Perinatal Health, and Chronic Disease Epidemiology
Michigan Dept. of Community Health
201 Townsend
PO Box 30195
Lansing, MI 48909
Phone: (517) 335-8497
Fax: (517) 335-9790
BachJ@michigan.gov
References and Resources
Pruthi S, Gostout BS, Lindor NM. Identification and Management of Women With
BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer. Mayo
Clin Proc 2010;85(12):1111-20.
US Preventive Services Task Force. Genetic Risk Assessment and BRCA Mutation
Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement.
Ann Intern Med 2005 Sep 6; 143:355-361.
Healthy People 2020: healthypeople.gov/2020/
Genomics:
http://www.healthypeople.gov/2020/topicsobjectives2020/pdfs/Genomics.pdf
Cancer: http://healthypeople.gov/2020/topicsobjectives2020/pdfs/Cancer.pdf