Direct-to-patient BRCA1 testing: the Twoj Styl experience

Breast Cancer Res Treat. 2006 Dec;100(3):239-45. doi: 10.1007/s10549-006-9261-5. Epub 2006 Jun 29.


Ideally, a genetic screening program for cancer should offer testing to all women who qualify, and who wish to participate, and who might benefit from the test. As the number of preventive options for women at high risk for hereditary breast cancer expands, the demand for testing increases. However, many women do not have ready access to testing because of cost, and many others have not been recognized by their physicians to be candidates for testing. It is possible to increase women's awareness about hereditary cancer through the popular press. Genetic testing was offered to 5000 Polish women through an announcement placed in a popular women's magazine (Twoj Styl) in October 2001. A total of 5024 women who qualified received a free genetic test for three mutations in BRCA1 which are common in Poland. Out of these, 198 women (3.9%) were found to carry a BRCA1 mutation. The overall cost per mutation detected was 630 US dollars--approximately 50-100 times less than the equivalent cost in North America. Genetic counseling was offered to women with a positive test or with a significant family history of breast or ovarian cancer. The great majority of women who took part in the program expressed a high degree of satisfaction and after one year approximately two-thirds of identified mutation carriers had complied with our recommendations for breast cancer screening. We found this model of genetic testing and delivery of genetic information to be very efficient in a population in which founder mutations predominate. There is a need for similar studies in other populations.

Publication types

  • Evaluation Study

MeSH terms

  • Adult
  • Aged
  • BRCA1 Protein / genetics*
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / economics
  • Breast Neoplasms / genetics*
  • Cost-Benefit Analysis
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing* / economics
  • Health Knowledge, Attitudes, Practice
  • Health Services Needs and Demand
  • Humans
  • Marketing of Health Services / methods*
  • Mass Media*
  • Middle Aged
  • Mutation
  • Patient Compliance
  • Patient Education as Topic
  • Patient Satisfaction
  • Pedigree
  • Poland
  • Predictive Value of Tests
  • Risk Factors
  • Surveys and Questionnaires


  • BRCA1 Protein
  • BRCA1 protein, human