3 years ago

Clinical genomic sequencing as a routine technology for case finding and diagnosis in unselected patient populations should not proceed without formal comparative evaluation of health outcomes and system impacts

Next generation genomic sequencing (NGS) technologies - whole genome and whole exome sequencing - are now cheap enough to be within the grasp of many healthcare organizations. To many, NGS is symbolic of cutting edge healthcare, offering the promise of ‘precision’ and ‘personalized’ medicine. Historically, research and clinical application has been a two way street in clinical genetics: research often driven directly by the desire to understand and try to solve immediate clinical problems affecting real, identifiable patients and families, accompanied by a low threshold of willingness to apply research-driven interventions without resort to formal empirical evaluations. However, NGS technologies are not simple substitutes for older technologies, and need careful evaluation for use as screening, diagnostic, or prognostic tools. We have concerns across three areas. Firstly, at the moment, analytic validity is unknown because technical platforms are not yet stable, laboratory quality assurance programs are in their infancy, and data interpretation capabilities are badly under-developed. Secondly, clinical validity of genomic findings for patient populations without pre-existing high genetic risk is doubtful, as most clinical experience with NGS technologies relates to patients with a high prior likelihood of a genetic aetiology. Finally, we are concerned that proponents argue not only for clinically-driven approaches to assessing a patient’s genome, but also for seeking out variants associated with unrelated conditions or susceptibilities - so-called “secondary targets” - this is screening on a genomic scale We argue that clinical uses of genomic sequencing should remain limited to specialist and research settings, that screening for secondary findings in clinical testing should be limited to the maximum extent possible, and that the benefits, harms, and economic implications of their routine use be systematically evaluated. All stakeholders have a responsibility to ensure that patients receive effective, safe health care, in an economically sustainable health care system. There should be no exception for genome-based interventions.

Publisher URL: www.sciencedirect.com/science

DOI: S0895435617309708

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