Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?

Abstract

Improvements in sequencing technologies have helped to refine diagnosis and patient stratification via molecular genetic testing for a number of conditions. Consequently, sequencing has increasingly entered clinical routine. Reduced cost, combined with enhanced throughput has helped to place sequencing also in the commercial market thus moving beyond particular indications. Diverse kinds of sequencing approaches are applied, ranging from gene panel to whole-genome sequencing. All these have proven successful in the identification of causal and therapeutically relevant alterations to the benefit of patients. However, a number of technical and ethical issues induce challenges that require their appreciation, societal discussion and consensual decision. Areas covered: In the following paper, advantages and disadvantages of different DNA sequencing strategies towards their application within and outside a clinical context are discussed particularly in the light of the incidence and impact genetic findings have at the personal as well as societal level. Expert commentary: We regard the comprehensive education of citizens about these challenges a prerequisite to reach a societal consensus on the exploitation of the huge opportunities while not neglecting the potential and real dangers that are associated with the resulting data.

Keywords: Genome sequencing; additional findings; consent; ethics; exome sequencing; gene panel; genetic variation.