Progress of a Comprehensive Familial Cancer Genetic Counseling Program in the Era of BRCA1 and BRCA2.
BRCA1 and BRCA2 mutation carriers have an increased risk of developing breast and/or ovarian cancer. Technical advances in genetic testing have increased the need for genetic counseling services; therefore, we have developed a counseling program for these individuals. The purpose of this study is to characterize this population, assess level of interest in genetic testing, and evaluate our program over a 5-year period. Our Familial Cancer Genetic Counseling Program was established in November, 1994. Information was collected prospectively, with comprehensive evaluation including complete pedigree, risk assessment, and counseling by a genetic counselor, geneticist, and oncologist. Data were collected on risk level, and subsequent recommendations for screening and/or genetic testing. There were 824 contacts recorded from November, 1994, through August, 1999. To date, 162 families have undergone comprehensive genetic evaluation and counseling. 90 (56%) were seen for a concerning family history and 72 (44%) were seen due to a personal history of malignancy. The majority of families had a significant level of risk with 126 (78%) families having two and 70 (43%) families having three affected first-degree relatives. Of the 162 families who received full counseling, 125 (77%) met criteria to recommend BRCA1/BRCA2 genetic testing. At this time, 30 of the 162 (18%) have had genetic testing. A brief phone contact or clinic visit is useful to screen individuals so that counseling can be directed toward truly high-risk families. In our program, the majority of families counseled were eligible for BRCA1/BRCA2 testing, but only 18% have elected to proceed at this time.
Hartenbach
Ellen M
EM
University of Wisconsin Comprehensive Cancer Center, Gynecologic Oncology Program, madison 53792, USA.
Becker
Joanne M
JM
Grosen
Elizabeth A
EA
Bailey
Howard H
HH
Petereit
Daniel G
DG
Laxova
Renata
R
Schink
Julian C
JC
D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D003110:Colonic Neoplasms / Q000453:epidemiology / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling / Q000458:organization & administration* / Q000639:trends; D006801:Humans; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D014922:Wisconsin