Women presenting for breast cancer screening at one of several mammography facilities associated with the University of Vermont Medical Center (UVMMC) were given the opportunity to complete and return a family history questionnaire. All women were invited to participate including those for asymptomatic screening and symptomatic referrals. The average age was 63 years and 100 % were female. A consent form was attached to the front of the questionnaire providing a description of the study and requesting permission to use information for this study. Permission was also obtained to contact patients for clarification of information on the questionnaire if necessary. Questionnaires were distributed between May 2001 and May 2002. The study was approved by the UVMMC IRB.
Information on all related family members was obtained via questionnaire (see Additional file 1) including gender, lineage (maternal or paternal), relatedness (sibling, parents, aunts, uncles, etc.), primary cancer and age at diagnosis. This questionnaire has been developed and pilot tested in the Familial Cancer Program at the University of Vermont Cancer Center.
Screening guidelines and risk models utilized
Breast Cancer Screening Guidelines and Models for Risk Assessment: The American Cancer Society (ACS) and National Comprehensive Cancer Network (NCCN) consider women as high risk with a greater than 20 % lifetime risk of breast cancer due to family history and recommend adding annual screening breast magnetic resonance imaging (MRI) to their annual mammogram for breast cancer screening [3, 12]. We calculated risk of developing breast cancer based on family history using the Claus Model . This model uses first and second degree family history and age at cancer diagnosis to determine risk. While other models exist (Gail, Tyrer-Cuzick, etc.), the Claus model is the only model which calculates risk solely based on family history. Therefore, the Claus model would not confound the results with factors affecting risk beyond family history.
There are several guidelines regarding referral for genetic counseling and testing for hereditary breast cancer including guidelines from American College of Obstetrics and Gynecology (ACoSOG), the National Comprehensive Cancer Network (NCCN) and the US Preventative Service Task Force (USPSTF) [4, 14, 15]. We chose to use the USPSTF guidelines as they include an extended family history and are easy to administer. The USPSTF recommends consideration of several validated screening tools including the Referral Screening Tool (RST). The RST is one of the easiest to use and therefore appropriate for busy primary care providers . The RST includes first or second degree relatives 50 years or younger with history of breast cancer, any first or second degree relative with ovarian cancer, male breast cancer or greater than one family member on the same side of the family over the age of 50 with breast cancer. Patients should be referred for genetic counseling if they meet two or more of these criteria.
Colorectal Cancer Screening Guidelines and Models for Risk Assessment: Several guidelines exist for colon cancer screening; however, only the ACS includes extended family history in recommendations for high risk individuals. These recommendations suggest that screening begin at age 40 for individuals with any first degree or two second degree relatives at any age with a history of colorectal cancer .
Guidelines for referral for genetic counseling or testing for hereditary colon cancer for individuals with no personal history of colorectal cancer have not been developed at this time. However, Hampel at al. suggest that individuals with a lifetime relative risk (RR) ratio of greater than 2.0 be referred for genetic counseling . This criteria can be met using the Amsterdam II criteria . Individuals meet criteria if they have one or more of the following: three or more first or second degree relatives with any HNPCC associated cancers, one relative with two or more HNPCC associated cancers or one first degree relative with colorectal cancer less than 50 years old.
All questionnaires were transcribed into a Microsoft Access database. Each study participant was assigned a unique, random identification number to allow depersonalization of data. The data was queried for individuals with at least one relative with a primary cancer excluding non-melanomatous skin cancers. This data was then queried to determine individuals who met specific guideline criteria based on their first degree family history followed by individuals who met criteria solely based on a first degree family history.