Referral practice for genetic counseling over time including patients' expectation and impact of the Jolie effect a prospective study

Introduction: Breast cancer (BC) is in 5 – 10% of hereditary origin. The identification of people at risk remains the key for optimal care. An underachievement of health care supply is known in respect to hereditary breast and ovarian cancer (HBOC). Jolie brought a huge public attention to HBCO in 2013. We had initiated a prospective study prior to her medical choice for a preventive bilateral mastectomy. The study evaluated reasons and motivations for patients' referral to Genetic consultation and counslees expectations.

Method: All counselees received a 34 item questionnaire at their first HBOC visit (September 2012 – January 2015).

Results: 917 (88.5%) out of 1083 counselees formed the study population among those 465 (50.8%) with a personal or first degree relative (n = 651,71.4%) history of BC or OC, facing a high-risk situation by pedigree (63.5%) or a hereditary BRCA mutation (10.8%). On average a counselee is a married (62.9%), has children (71%) with a profession (36.6%) and German heritage (89.0%) living in a village (40.5%). Physicians, families play the major role for initiating consultation. Education is significantly associated with the initiator. Answers on personal risk stratification, surveillance programs and cancer causes are major counselees' expectations. The Jolie effect strongly increased genetic counseling. Futhermore fewer appointments were canceled, significant more men attended. Generally, more married women with children and those with a known family BRCA mutation got in contact with our genetic outpatient clinic.

Perspective: The increase of complex genetic testing needs patients-oriented knowledge transfers and easy access to high professional genetic counseling.