Volume 33, Issue 1

Around 10–15 % of all couples are infertile, rendering infertility a widespread disease. Male and female causes contribute equally to infertility, and, depending on the definition, roughly 1 % to 5 % of all couples experience recurrent miscarriages. In German-speaking countries, recommendations for infertile couples and couples with recurrent miscarriages are published as consensus-based (S2k) Guidelines by the “Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften” (AWMF). This article summarizes the current recommendations with regard to genetic counseling and diagnostics. Prior to genetic counseling, the infertile couple must undergo a gynecological/andrological examination, which includes anamnesis, hormonal profiling, physical examination and genital ultrasound. Women should be examined for the presence of hyperandrogenemia. Men must further undergo a semen analysis. Based on the overall results, hyper- or hypogonadotropic hypogonadism can be diagnosed in both sexes. Female genetic diagnostics for infertility comprise karyotyping, analysis of the FMR1 premutation and a gene panel including genes associated with congenital hypogonadotropic hypogonadism (CHH) or congenital adrenal hyperplasia. Male genetic diagnostics for infertility comprise karyotyping, screening for AZF microdeletions, CFTR analysis and a gene panel including genes associated with CHH. Also, gene panels are increasingly being used to causally clarify specific phenotypes such as defective sperm morphology/motility or azoospermia. As infertile couples have an increased risk for chromosomal aberrations, a chromosomal analysis should also be offered to both partners prior to undergoing assisted reproductive technology. In couples with recurrent miscarriages, karyotyping is recommended to detect balanced structural chromosomal aberrations.

Counseling recurrence risks for monogenic disorders is one of the mainstays of human genetics. However, in practice, consultations concerning autosomal recessive disorders exceed the simple conveyance of a 25 % recurrence risk for future offspring. Medical geneticists should be aware of the multifaceted way in which autosomal recessive disorders can pose a diagnostic and counseling challenge in their daily lives and of the pitfalls they might encounter. Although the intentional or incidental detection of carrier states for autosomal recessive diseases happens more and more frequently, our current practice when clarifying their associated reproductive risks remains unsystematic and often subjectively guided. We question whether the approach of focusing on small recurrence risks for a single familial disease with extensive single-gene tests in the partner of a known carrier truly addresses the counseling needs of a couple seeking preconceptional genetic advice. Different perspectives between patients and medical practitioners (or between different medical practitioners) on “acceptable risks” or the extent to which such risks must be minimized raise the question of whether existing professional guidelines need to be clarified.

In the recently developed International Classification of Inherited Metabolic Disorders (ICIMD), more than one third of the 1450 listed conditions involve gene products required for intermediary metabolism. 225 of these diseases represent deficiencies of enzymes or transport proteins in the breakdown of nutrients, many of which cause acute “metabolic” presentations with typical biochemical features that are amenable to specific treatments. A group-based approach to these conditions not only assists in understanding and remembering them but facilitates the best choice of diagnostic tests and acute treatment. This review describes the basic characteristics of the 25 disease groups in the four categories of nutrient breakdown in intermediary metabolism, outlines the often relatively straight-forward diagnostic approach, and summarizes important therapeutic principles. It should also assist in the retrospective identification of likely metabolic disorders in the family history for genetic counselling.

Genetic counselors represent an indispensable, well-established, and well-integrated group of healthcare providers in the field of genetic and genomic medicine in the United States. They work with other members of the healthcare team to provide information and support to individuals and families concerned with genetic disorders. With more than 5,000 certified genetic counselors in the U.S. and an expected growth of 100 % over the next decade, genetic counseling represents one of the fastest-growing professions in the U.S. Genetic counselors work in clinical environments (e. g., hospitals), in companies (e. g., genetic testing firms), and as consultants to medical practices and others. Twenty-six states license genetic counselors as practitioners who can bill independently, with licensure applications underway in the remaining 24 states. Physicians, genetic counselors, and diagnosticians represent the three pillars of comprehensive, integrated genomic medical care. Within this triad, genetic counselors see their primary role in procuring and interpreting family and medical histories, assessing inheritance, quantifying chances of recurrence, facilitating decision-making regarding genetic testing options, and explaining the results of such testing to the respective individuals within the greater context of their families.

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.

To carry out quality management of genetic counseling, it is important to know what genetic counseling exactly means and who the players are. The term “genetic counseling” was first defined by Reed in 1947. It describes a communication process dealing with genetic facts and psychosocial aspects and is an education process, too. It has always been understood in the context of individual and family problems, and is unrelated to eugenics. In 1975 the Ad Hoc Committee of the American Society of Human Genetics published a more detailed description. With the development of new diagnostic techniques and methods in human genetics, the requirements of genetic counseling and its contents changed. Today a genetic counselor has to apply diagnostic, predictive, susceptibility, pharmacogenetic, carrier, prenatal, and preimplantation testing, as well as genetic screening. The German Human Genetic Examination Act (Genetic Diagnosis Act – GenDG) and national and international associations recommend to embed genetic testing into genetic counseling. Based on experiences of the author, some examples of pitfalls in genetic counseling are illustrated, as there are so many individual situations and requests that it seems impossible to carry out quality management. Nevertheless, the Commission for Quality in Genetic Counseling and Clinical Genetics of the Professional Association of German Human Geneticists started a pilot ring trial in 2018 with a given counseling situation. The task was to write the human genetics comment with the help of a checklist containing all issues necessary. The evaluation was conducted with the help of a catalogue of criteria which had been established beforehand and a score adjusted to the individual situation. The first genuine pilot trial was launched in 2020. It represents a possibility for quality management in genetic counseling.

Telemedicine has been in practical use for many years, mostly within the context of model projects. The current Covid-19 pandemic has accelerated the process of implementing telemedicine in standard care. Numerous regulations, as well as complex reimbursement structures play a role in the application of telemedicine in medical genetics in Germany. Discipline- and technology-specific challenges complicate the integration of technical solutions into the medical genetic practice. In previous studies teleconsultations and virtual consultations in medical genetics have proven their value as indicated by high levels of satisfaction in the users and showing no inferiority to in-person consultation in terms of psychosocial outcome. The next years will bring an increasing demand for genetic counseling that can hardly be met by the limited number of specialists in Germany. In this context telemedicine can help to close these gaps in standard care while strengthening the field by ensuring comprehensive medical genetic care. The German medical genetics community is asked to actively shape the process of implementation by defining areas of genetic counseling that are suitable for telemedicine, by regulating access for physicians and by contributing to the renumeration structures.

Zusammenfassung In den letzten Jahren ist die Geschichte der humangenetischen Beratung zunehmend Gegenstand medizin- und wissenschaftsgeschichtlicher Forschungen geworden. In diesem Artikel untersuche ich anhand von Archivmaterial und medizinischer Fachliteratur der damaligen Zeit die Etablierung und Ausgestaltung der humangenetischen Beratung in der DDR von den 1960er Jahren bis zum Fall der Berliner Mauer 1989. Die Initiative zur Einrichtung eines humangenetischen Beratungsdienstes in der DDR startete in den 1960er Jahren und ging auf Wissenschaftler und Wissenschaftlerinnen zurück, die sich mit humangenetischen Problemen befassten, und in ihrer politischen Einstellung heterogen waren. In den 1970er und 80er Jahren wurde ein flächendeckendes Netz von humangenetischen Beratungsstellen geschaffen, die entweder an Universitätseinrichtungen oder an Bezirkskrankenhäusern angesiedelt waren. Trotz der zentralen Steuerung gab es einen beträchtlichen Unterschied zwischen den einzelnen Bezirken. In der DDR führten sowohl Biologen und Biologinnen als auch Ärzte und Ärztinnen humangenetische Beratungen durch. Mit ihrem Fokus auf einzelne Individuen bzw. Familien und ihrer Ablehnung jeglicher Art von Zwang setzten sich die Humangenetiker und Humangenetikerinnen von den eugenischen Praktiken der NS-Zeit ab. Dennoch ließen sie – wie auch in der BRD – populationsgenetische Zielsetzungen nicht völlig außer Acht. Auch in ihrer Zielsetzung – die Geburt behinderter Kinder zu verhindern und die Geburt gesunder Kinder zu fördern – unterschied sich die humangenetische Beratung in der DDR nicht von anderen, auch nicht-sozialistischen Staaten. Diese Absicht war nicht staatlich vorgeschrieben, sondern Ausdruck einer gesellschaftlichen Haltung, die Behinderung mit Leiden gleichsetzte.