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Actionability and scope should determine the extent of counselling for presymptomatic genetic testing

Zimmermann B, Starke G, Shaw D, Elger B, Koné I
Swiss Med Wkly. 2020;150:w20274

Patients considering undergoing presymptomatic genetic and genomic testing commonly receive prior genetic counselling. However, there is a need to discuss further why genetic counselling has such unique and high importance in many countries worldwide. This discussion will help to rationalise resource allocations within healthcare systems and improve patient communication in genetics and other fields.

Medical-ethical recommendations: preimplantation genetic testing PGT

Special article
Swiss Academy of Medical Sciences
Swiss Med Wkly. 2020;150:w20298

The recommendations of the Swiss Academy of Medical Sciences (SAMS) are designed to draw attention, from an ethical perspective, to important aspects of the PGT counselling and decision-making situation, and to promote ethical awareness in the performance of PGT. In addition, they discuss how, for example, surplus information should be managed.

HLA studies in the context of coronavirus outbreaks

Sanchez-Mazas A
Swiss Med Wkly. 2020;150:w20248

Little is known at the moment about specific immune mechanisms that would work against SARS-CoV-2, although such knowledge is expected to play a vital role. In this context, a particular focus has to be given to the human leucocyte antigen system that governs our adaptive immunity.

A review of HLA allele and SNP associations with highly prevalent infectious diseases in human populations

Review article: Biomedical intelligence
Sanchez-Mazas A
Swiss Med Wkly. 2020;150:w20214

This article reviews the associations that have been best documented between markers at classical HLA genes and six of the most prevalent infectious diseases, and discusses this in a population genetics and evolutionary perspective.

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort

Original article
Kraemer D, Azzarello-Burri S, Steindl K, Boonsawat P, Zweier M, Dedes KJ, Joset P, Fink D, Rauch A
Swiss Med Wkly. 2019;149:w20092

Since the advent of high-throughput sequencing technologies, organised germline screening, independent of personal and family cancer history, has been frequently proposed. A critical prerequisite is knowledge of the expected carrier frequencies.

A new era of gene editing for the treatment of human diseases

Review article: Biomedical intelligence
KC M, Steer CJ
Swiss Med Wkly. 2019;149:w20021

Significant advances in the field of gene editing have not only provided new tools for genetic surgery, but have also heralded a new era of medicine, with possibilities never imagined even half a century ago.

Genetics and epigenetics of inflammatory bowel disease

Review article: Biomedical intelligence
Wawrzyniak M, Scharl M
Swiss Med Wkly. 2018;148:w14671

Current knowledge about genetic and epigenetic involvement in the pathogenesis of inflammatory bowel disease is poor. In addition to genetic alterations, the intestinal microbiota and environmental factors also play a critical role.

Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice

Review article: Biomedical intelligence
Medeiros Domingo A, Bolliger S, Gräni C, Rieubland C, Hersch D, Asatryan B, Schyma C, Saguner A, Wyler D, Bhuiyan Z, Fellman F, Osculati AM, Ringger R, Fokstuen S, Sabatasso S, Wilhelm M, Michaud K, Swiss Working Group on Sudden Cardiac Death
Swiss Med Wkly. 2018;148:w14638

Genetic testing can reveal substrates for cardiomyopathies and channelopathies, as well as aortic diseases and premature atherosclerosis, which may explain some sudden cardiac deaths.

Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia

Original article
Nguyen A, Martin Silva N, de Boysson H, Damaj G, Aouba A
Swiss Med Wkly. 2018;148:w14606

Cartilage hair hypoplasia is a rare autosomal recessive ribosomopathy related to a mutation in the ribonuclease mitochondrial RNA processing (RMRP) gene, which encodes the mitochondrial portion of the RNA processing endonuclease.

Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel

Original article
Kherra S, Blouin JL, Santoni F, Schwitzgebel V
Swiss Med Wkly. 2017;147:w14535

Monogenic diabetes most frequently presents as maturity onset diabetes of the young (MODY), an autosomal dominant disorder leading to beta cell dysfunction.

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