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In 2019, the Medical University of Innsbruck introduced the first Genetic and Genomic Counseling master's program in the German-speaking countries. A major challenge of this process was the absence of practicing Genetic Counselors (GC) in these countries, leading to a lack of experience with GCs in medical genetic services and the absence of a legal framework for the profession. Consequently, student placements within the program commenced with neither the students nor their supervising consultants having any previous experience of collaborative teamwork between clinical geneticists and GCs. To share insights from the initial implementation phase, supervising consultants from the seven student placement institutes were invited to participate in semi-structured interviews guided by open-ended questions. From these interviews, three models of interprofessional teamwork between GCs and clinical geneticists emerged: (1) the alternating or tandem model, (2) qualified preliminary and follow-up patient interviews, and (3) the provision of genetic (counseling) services without genetic counseling in the legal sense. In addition, the interviewees provided recommendations for addressing legal concerns and for the effective establishment of appropriate compensation structures for GCs within the German-speaking countries. Clinical geneticists taking part in the study estimated that the integration of GCs could potentially enhance their counseling capacity by as much as 50%. Importantly, they did not foresee any reduction in counseling quality caused by the inclusion of GCs. This study provides evidence that the GC profession can provide additional skills to human genetic services and positively impact both patient support and overall capacity of genetic services also in the German-speaking countries., (© 2024 The Author(s). Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

In spring 2022, the inaugural cohort of Genetic and Genomic Counseling MSc students graduated from the Medical University of Innsbruck, representing a significant milestone for the establishment of the genetic counselor (GC) profession in the German-speaking countries. A pivotal component of their education was a 15-week clinical training period. The placement experiences of both students and supervisors offered valuable insights into the attitudes of medical geneticists toward the profession. To share the knowledge gained by these pioneers and offer guidance to potential placement institutions, the MSc program team organized an online workshop on the education and training of GCs in German-speaking countries in October 2022. The first part of the workshop focused on the training program and professional profile of GCs in the German-speaking countries. It covered educational aspects, such as the structure of the MSc degree program and specific communication training. Additionally, it addressed challenges arising from the integration of GCs into existing genetics centers. The second part of the workshop delved into first-hand experiences of genetic counseling students and placement providers during clinical training. Featuring insights from supervisors, this session facilitated a discussion about the roles of GCs within interprofessional genetics teams. The workshop participants agreed on a growing demand for GCs and highlighted positive experiences, as well as challenges within participating institutes that had hosted a student. In this article we summarize suggestions for the education and training of GCs in the German-speaking countries where the profession is newly established., Competing Interests: Kathrin Taxer, Sabrina Marti, Simona Cionca, Petra Freilinger, Corinne Gemperle, Anna Kalantidou, Heidi Stöhr, Sina Ramcke, and Christina Wölwer are current graduates of the MSc program in Genetic and Genomic Counseling at the Medical University of Innsbruck. Gunda Schwaninger, Sabine Rudnik-Schöneborn, and Johannes Zschocke are program director and part of the development and teaching team of the master program in Genetic and Genomic Counseling at the Medical University of Innsbruck., (© 2024 The Authors.)

Competing Interests: Author Simone Heidemann is a graduate of the MSc program in Genetic and Genomic Counseling at the Medical University of Innsbruck. Authors Gunda Schwaninger, Sabine Rudnik-Schöneborn, and Johannes Zschocke are program director and part of the development team of the master program in Genetic and Genomic Counseling at the Medical University of Innsbruck.

Routine genetic testing in hypercholesterolemia patients reveals a causative monogenic variant in less than 50% of affected individuals. Incomplete genetic characterization is partly due to polygenic factors influencing low-density-lipoprotein-cholesterol (LDL-C). Additionally, functional variants in the LPA gene affect lipoprotein(a)-associated cholesterol concentrations but are difficult to determine due to the complex structure of the LPA gene. In this study we examined whether complementing standard sequencing with the analysis of genetic scores associated with LDL-C and Lp(a) concentrations improves the diagnostic output in hypercholesterolemia patients. 1.020 individuals including 252 clinically diagnosed hypercholesterolemia patients from the FH Register Austria were analyzed by massive-parallel-sequencing of candidate genes combined with array genotyping, identifying nine novel variants in LDLR. For each individual, validated genetic scores associated with elevated LDL-C and Lp(a) were calculated based on imputed genotypes. Integrating these scores especially the score for Lp(a) increased the proportion of individuals with a clearly defined disease etiology to 68.8% compared to 46.6% in standard genetic testing. The study highlights the major role of Lp(a) in disease etiology in clinically diagnosed hypercholesterolemia patients, of which parts are misclassified. Screening for monogenic causes of hypercholesterolemia and genetic scores for LDL-C and Lp(a) permits more precise diagnosis, allowing individualized treatment., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening Array) for a range of indications. Applications included stand-alone testing for specific variants (32 variants in 10 genes), first-tier array variant screening for monogenic conditions (10 different autosomal recessive metabolic diseases), and diagnostic workup for specific conditions caused by variants in multiple genes (suspected familial breast and ovarian cancer, and hypercholesterolemia). Our analyses showed a high analytical sensitivity and specificity of array-based analyses for validated and non-validated variants, and identified pitfalls that require attention. Ethical-legal assessment highlighted the need for a software solution that allows for individual indication-based consent and the reliable exclusion of non-consented results. Cost/time assessment revealed excellent performance of diagnostic array analyses, depending on indication, proband data, and array design. We have implemented some analyses in our diagnostic portfolio, but array optimization is required for the implementation of other indications., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

In contrast to most European countries, genetic counseling in Austria, Germany, and German-speaking Switzerland is exclusively carried out by medical doctors. In this study, we investigate the perspectives of key clinician stakeholders in Austrian genetics services regarding prerequisites, opportunities, and challenges of implementing master's trained genetic counselors. Semi-structured interviews with open-ended questions and thematic analysis were carried out with nine participants, mostly medical geneticists at different hierarchy levels from three Centers for Medical Genetics in Austria. Several Austrian medical geneticists strongly object to the implementation of non-physician genetic counselors, and representatives of 3/6 medical genetic centers declined to be interviewed. Semantic framing was identified as a critical factor: In German medical language, patient consultations carried out by medical geneticists are generally called 'Genetische Beratung' (genetic counseling), and many medical geneticists see themselves primarily as 'Genetische Berater' (genetic counselors). 'Genetic counseling' is specified as an exclusively medical task in Austrian law. There is apprehension that the introduction of non-physician genetic counselors could reduce quality and undermine the position of medical genetics as a clinical specialty. The situation in Austria resembles that in Germany. Our study highlights the need for a clear definition of roles, expertise, and scope of practice of different genetic professionals. The integration of genetic counselors into Austrian genetics services is most likely acceptable in multi-professional teams, closely affiliated with medical genetic services, and under the medico-legal oversight of medical geneticists., (© 2021 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

The genetic counsellor profession has not yet been established in the German-speaking countries. In 2019 the Medical University of Innsbruck inaugurated the first German-taught Master's degree programme in Genetic and Genomic Counselling. In order to discuss prospects and challenges of the genetic counsellor profession in Germany, Austria and Switzerland (DACH region), the MSc programme team organized a two-day workshop with international speakers and medical geneticists from the DACH region. Day 1 was dedicated to the history, training and international profile of the genetic counsellor profession. Day 2 focused on four specific topics: (i) professional role, (ii) acceptance and job title, (iii) formal requirements and (iv) remuneration concepts for genetic counsellors in the DACH region. The workshop showed that the key factor for the successful implementation of the genetic counsellor profession is acceptance and trust within the medical genetics team. Genetic counsellors complement patient care in aspects that might be underserved considering the increasing demand of counselling in genomic medicine. Successful establishment of the genetic counsellor profession will entail the development of interprofessional teams under medical supervision and in the team of medical geneticists., (© 2021 Schwaninger et al., published by De Gruyter.)

The metastatic spread of epithelial cancer cells from the primary tumor to distant organs mimics the cell migrations that occur during embryogenesis. Using gene expression profiling, we have found that the FOXC2 transcription factor, which is involved in specifying mesenchymal cell fate during embryogenesis, is associated with the metastatic capabilities of cancer cells. FOXC2 expression is required for the ability of murine mammary carcinoma cells to metastasize to the lung, and overexpression of FOXC2 enhances the metastatic ability of mouse mammary carcinoma cells. We show that FOXC2 expression is induced in cells undergoing epithelial-mesenchymal transitions (EMTs) triggered by a number of signals, including TGF-beta1 and several EMT-inducing transcription factors, such as Snail, Twist, and Goosecoid. FOXC2 specifically promotes mesenchymal differentiation during an EMT and may serve as a key mediator to orchestrate the mesenchymal component of the EMT program. Expression of FOXC2 is significantly correlated with the highly aggressive basal-like subtype of human breast cancers. These observations indicate that FOXC2 plays a central role in promoting invasion and metastasis and that it may prove to be a highly specific molecular marker for human basal-like breast cancers.