The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

IHC triage of women with endometrial cancer at any age having at least 1 FDR with a Lynch-associated cancer is a cost-effective strategy for detecting Lynch syndrome.

The scale has direct relevance for research in facilitating our understanding of the specific aspects of the self, which are vulnerable to BRCA1/2 testing and which play a role in clinical outcomes, to facilitate the development and specific testing of interventions and may be used as an outcome measure. Specific measurement tools for genetic populations will ultimately assist in the clinical management of these populations.

Genetic testing for mutations in BRCA1 and BRCA2 is available in Canada for women with a significant family history of breast cancer. For the majority of tested women, a BRCA1 or BRCA2 mutation is not found, and counselling regarding breast cancer risk is based on the review of the pedigree. In this prospective study, we estimate breast cancer risks in women with a family history of breast cancer and for whom the proband tested negative for a mutation in BRCA1 or BRCA2. Families with two or more breast cancers under the age of 50 years, or with three cases of breast cancer at any age, and who tested negative for a BRCA1 or BRCA2 mutation were identified. Follow-up information on cancer status was collected on all first-degree relatives of breast cancer cases. The standardised incidence ratios (SIRs) for breast cancer were calculated by dividing the observed numbers of breast cancer by the expected numbers of breast cancers, based on the rates in the provincial cancer registries. A total of 1492 women from 365 families were included in the analyses. The 1492 first-degree relatives of breast cancer cases contributed 9109 person-years of follow-up. Sixty-five women developed breast cancer, compared to 15.2 expected number (SIR ¼ 4.3). The SIR was highest for women under the age of 40 (SIR ¼ 14.9) years and decreased with increasing age. However, the absolute risk was higher for women between the age of 50 and 70 (1% per year) years than for women between 30 and 50 (0.4% per year) years of age. There was no elevated risk for ovarian, colon or any other form of cancer. Women with a significant family history of breast cancer (ie, two or more breast cancers under the age of 50 years, or three or more breast cancers at any age), but who test negative for BRCA mutations have approximately a four-fold risk of breast cancer. Women in these families may be candidates for tamoxifen chemoprevention and/or intensified breast screening with an MRI. For women with a significant family history of breast cancer, genetic testing for mutations in BRCA1 and BRCA2 is available throughout Canada and elsewhere. Approximately, 25% of familial breast cancer patients carry a mutation in one of the two breast cancer genes (Shih et al, 2002;Simard et al, 2007). Hence, the majority of women with a family history of breast cancer will receive a negative genetic test result. For these women, counselling regarding breast cancer risk estimation is difficult and is based on the examination of the pedigree and the evaluation of other risk factors. It is unclear to what extent their breast cancer risk is raised. In this study, we estimate the breast cancer risks for women with a strong family history of breast cancer, but tested negative for a mutation in BRCA1 or BRCA2. MATERIALS AND METHODS SampleEligible subjects were drawn from a database of families who had received testing for BRCA1 and BRCA2 mutations in Ontario and British Columbia, but tested negative. Each family contained two or more breast cancers diagnosed under the age of 50 years, or...