Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

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.

Genetic counselling

Genetic counselling is one of the major tools in managing inherited cardiac conditions (ICCs) including single gene disorders such as hypertrophic cardiomyopathy and long QT syndrome to multifactorial conditions such as coronary artery disease (CAD) and congenital heart disease (CHD). This chapter deals with genetic counselling for ICCs that are typically transmitted in a Mendelian fashion, for example cardiomyopathies, arrhythmias, Marfan syndrome, as well as inherited lipid disorders. Typically, a genetic counsellor works within a multidisciplinary team including cardiologists, clinical geneticists, nurses, social workers, and psychologists. This chapter covers the role of genetic counsellors, process, consent and confidentiality, communication, and outcomes.

Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

The Age of Personalized Medicine—From Patients to Consumers

How many online contracts have you entered into this year and how many of those did you actually read? This chapter explores the impact that the designed environment of websites and electronic contracts have on the exercise of individual autonomy in the context of the example of direct-to-consumer genetic tests (DTC). DTC tests for health purposes can be viewed as an example of Personalized Medicine, but as the mode of sale usually lacks the involvement of a physician or genetic counsellor and the industry is largely unregulated, companies often rely on their contracts and privacy policies to govern relationships with consumers. This chapter seeks to shed light on the impact that offering these services online and relying on electronic contracts, which people have grown accustomed to ignoring, has on the exercise of autonomy and an individual’s ability to make an informed choice in this context.

A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial

IntroductionIn current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of genetic counselling and predictive DNA testing in relatives suggests that not all relatives are sufficiently informed. We developed a randomised controlled trial to evaluate the effectiveness of a tailored approach in which probands decide together with the genetic counsellor which relatives they inform themselves and which relatives they prefer to have informed by the genetic counsellor. Here, we present the study protocol of this randomised controlled trial.MethodsA multicentre randomised controlled trial with parallel-group design will be conducted in which an intervention group receiving the tailored approach will be compared with a control group receiving usual care. Adult probands diagnosed with an ICC in whom a likely pathogenic or pathogenic variant is identified will be randomly assigned to the intervention or control group (total sample: n=85 probands). Primary outcomes are uptake of genetic counselling and predictive DNA testing by relatives (total sample: n=340 relatives). Secondary outcomes are appreciation of the approach used and impact on familial and psychological functioning, which will be assessed using questionnaires. Relatives who attend genetic counselling will be asked to fill out a questionnaire as well.Ethics and disseminationEthical approval was obtained from the Medical Ethical Committee of the Amsterdam University Medical Centres (MEC 2017-145), the Netherlands. All participants will provide informed consent prior to participation in the study. Results of the study on primary and secondary outcome measures will be published in peer-reviewed journals.Trial registration numberNTR6657; Pre-results.

7. Genetic Information and the Law

This chapter discusses the nature of genetic disease and the role of the genetic counsellor in handling personal and familial genetic information; legal and ethical responses to the ‘familial’ nature of genetics; individual and family interests in genetic information; other parties’ interests in genetic information; state interest in genetic information; gene therapy; and cloning.