Work

Screening in Human Genetics – new opportunities, new responsibilities

Year: 2026

Type: article

Abstract: Only a generation ago, genetic testing was almost exclusively performed for specific clinical indications: an affected individual, a suggestive family history, or prenatal findings requiring further clarification.In this setting, human genetics primarily served as a diagnostic discipline, helping to establish disease causes, define the chance of recurrence, and support clinical management.Today, genetic analyses are increasingly offered to individuals with the aim of identifying disease predisposition before clinical manifestations occur.This development has been driven not only by rapid advances in sequencing technologies and declining costs, but equally by the growing number of genetic conditions for which early diagnosis enables meaningful prevention, surveillance or treatment.As a consequence, screening has become one of the defining applications of modern human genetics, expanding the role of our discipline from diagnosis towards preventive medicine.

Source: Medizinische Genetik

DOI: 10.1515/medgen-2026-3026

Authors: Christian P. Schaaf, Sabine Rudnik-Schöneborn

Institutions: Heidelberg University, Innsbruck Medical University, Universität Innsbruck

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: