Thirty-years of genetic counselling education in Europe: a growing professional area.

Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs. Directors of master programs in Europe were invited to complete an online survey describing their program, including year of commencement, course duration, number of students and frequency of intake and number graduating. Results of the survey were presented at a closed meeting at the European Society of Human Genetics conference in 2022 along with a facilitated stakeholder engagement session in which 19 professionals participated to understand the challenges in delivering genetic counselling education in Europe. A total of 10 active programs exists in Europe with the first training program starting in 1992. The majority of training programs have a 2-year duration, with just over half of programs having an annual intake of students. Up to May 2022, 710 students have graduated from genetic counseling training programs across Europe. Of these, 670 students graduated from European Board of Medical Genetics-registered programs. Arranging clinical placements, clinical and counseling supervision of students, research collaboration for MSc research projects and incorporating genomics into the curriculum were identified as current challenges for genetic counseling education. Genetic counseling is still a developing profession in Europe and this historical and current view of the European genetic counselor pathways, allows for educational and professional standards to be examined as the profession evolves into the future.

A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22.

BACKGROUND: Colorectal cancer (CRC) is the second cause of cancer-related death in the Western world. Much of the CRC genetic risk remains unidentified and may be attributable to a large number of common, low-penetrance genetic variants. Genetic linkage studies in CRC families have reported additional association with regions 9q22-31, 3q21-24, 7q31, 11q, 14q and 22q. There are several plausible candidate genes for CRC susceptibility within the aforementioned linkage regions including PTCH1, XPA and TGFBR1 in 9q22-31, and EPHB1 and MRAS in 3q21-q24. METHODS: CRC cases and matched controls were from EPICOLON, a prospective, multicentre, nationwide Spanish initiative, composed of two independent phases. Phase 1 corresponded to 515 CRC cases and 515 controls, whereas phase 2 consisted of 901 CRC cases and 909 controls. Genotyping was performed for 172 single-nucleotide polymorphisms (SNPs) in 84 genes located within regions 9q22-31 and 3q21-q24. RESULTS: None of the 172 SNPs analysed in our study could be formally associated with CRC risk. However, rs1444601 (TOPBP1) and rs13088006 (CDV3) in region 3q22 showed interesting results and may have an effect on CRC risk. CONCLUSIONS: TOPBP1 and CDV3 genetic variants on region 3q22 may modulate CRC risk. Further validation and meta-analysis should be undertaken in larger CRC cohorts.