Year of Publication



Public Health

Date Available


Degree Name

Dr. of Public Health (Dr.P.H.)

Committee Chair

James W. Holsinger, Jr., MD, PhD

Committee Member

Radha Nagarajan, PhD

Committee Member

Angela Carman, DrPH

Committee Member

Eric Durbin, DrPH, MS


Paper 1: An Assessment of Kentucky Cancer Registry Data for Appropriate Referral to Genetic Services for Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome, 2009-2012

BACKGROUND: It is estimated that over 1 million people in the United States have Hereditary Breast and Ovarian Cancer syndrome (HBOC) or Lynch syndrome (LS). Evidence-based guidelines for identifying individuals with HBOC and LS are available, and the CDC has developed a toolkit to provide guidance for the implementation of programs to increase identification of patients appropriate for cancer genetic services. However, most individuals with HBOC and LS remain undiagnosed. While some state public health departments have pioneered programs in public health genetics, many states, including Kentucky, have conducted little work in this area. This study utilizes Kentucky Cancer Registry data to estimate the number of cases of breast, ovarian, fallopian tube, colorectal and endometrial cancers diagnosed between 2009-2012 that would meet guidelines for referral to genetic services in order to determine the state’s need for public health genetics programs that target hereditary cancer syndromes.

METHODS: Kentucky Cancer Registry data for all diagnoses of breast, ovarian, fallopian tube, colorectal and endometrial cancers between 2009-2012 was obtained. Evidence-based guidelines from NCCN, EGAPP, and ACMG/NSGC were applied to the data to determine the number of cases that met criteria for referral to genetic services. Descriptive statistics were performed to generate count data and referral groups were compared using chi-square statistics. The most recent year of data (2012) was used to analyze the distribution of cases across Kentucky counties and Area Development Districts (ADDs).

RESULTS: Of the 28,109 cases of breast, ovarian, fallopian tube, colorectal, and endometrial cancer diagnosed in Kentucky between 2009-2012, 15,477 (55.1%) were determined to meet guidelines for referral including 4229 cases of breast cancer, 1057 cases of ovarian and fallopian tube cancers, 9815 colorectal cancers and 376 endometrial cancers. Chi-square analysis indicated that cases in the referral group were more likely to be from individuals identified as black (p=0.0005), individuals with late stage caners (p

DISCUSSION: This study represents the first analysis of Kentucky Cancer Registry data to identify cancer cases appropriate for referral to genetic services and has identified that a significant number of cases each year would be appropriate for referral. Identification of patients with HBOC and LS allow for the appropriate planning for cancer prevention, screening, and treatment in both index cases and their relatives. Population-based programs for the identification and referral of patients who would benefit from genetic services should be considered in Kentucky. In order to accommodate additional referrals that would likely result, efforts should be made to expand the genetic counseling workforce in Kentucky.

Paper 2: Utilizing Medicaid Claims Data to Assess the Use of Genetic Testing for Hereditary Breast and Ovarian Cancer Syndrome in Kentucky and Characteristics that Influence Genetic Testing Completion

BACKGROUND: Hereditary Breast and Ovarian Cancer syndrome (HBOC) is a genetic condition that causes a significantly increased risk for breast, ovarian and other cancers. Genetic testing of the BRCA1 and BRCA2 genes has been available commercially for nearly 20 years; however, many individuals with HBOC remain unaware of their increased cancer risks. Factors that affect referral to and uptake of genetic counseling and testing have been previously reported including race, age, physician type, marital status, increased risk for breast cancer, and knowledge of genetics. This study utilizes Kentucky Medicaid Claims data to examine how many individuals diagnosed with breast, ovarian or fallopian tube cancer actually received genetic testing and to determine the specific socio-demographic factors associated with obtaining genetic testing in Kentucky.

METHODS: A cross-section of Kentucky Medicaid Claims data for the years 2009-2012 for individuals diagnosed with breast, ovarian or fallopian tube cancer was utilized in this study to determine how many individuals appropriate for genetic counseling and testing based on select NCCN guidelines actually received this testing. Descriptive statistics were performed to generate count data. T-test and chi-square tests were used to determine difference between individuals who had a claim for genetic testing and individuals who did not. Logistic regression was performed to determine variables that affected whether a person had genetic testing while controlling for possible confounders.

RESULTS: This study found 3144 patients with a Medicaid claim between 2009-2012 who had a diagnosis of breast cancer and were age 50 or younger, male breast cancer, ovarian or fallopian tube cancer. Of these individuals, 241 (7.7%) also had a claim for genetic testing. Of individuals who were appropriate for referral, 43.61% lived within 50 miles of a full-time, on-site genetic counseling clinic, and distance from a genetic counseling clinic was not found to be significantly associated with genetic testing. Logistic regression results showed that the odds of having genetic testing decreased by 13.2% for every 5 years increase in patient age (OR=0.868, p

DISCUSSION: This study was the first to use Medicaid Claims data in Kentucky to determine the use of genetic testing among individuals who meet evidence-based guidelines for referral to genetic services. This study found a low uptake of genetic testing in this population (7.7%), although this is likely an underestimate of the number of individuals who had genetic testing given that this was a cross-sectional data set where individuals may have had genetic testing outside of the study time frame. Given the results of this study, strategies need to be considered by the public health workforce for increasing the number of individuals at-risk for hereditary cancer syndromes who are referred to and receive cancer genetic services. Continued research of the utilization of genetic testing in Kentucky and barriers to referral and uptake of genetic testing need to be done to further inform program development.

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