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The unintended implications of blurring the line between research and clinical care in a genomic age

The unintended implications of blurring the line between research and clinical care in a genomic age

Benjamin E Berkman,*,1,2 Sara Chandros Hull,1,2 and Lisa Eckstein2,3

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The publisher's final edited version of this article is available at Per Med

Abstract

While the development of next-generation sequencing technology has had a paradigm-changing impact on biomedical research, there is likely to be a gap between discovery of therapeutic benefits in research and actual adoption of the new technology into clinical practice. This gap can create pressure on the research enterprise to provide individualized care more typical of the clinic setting because it is uniquely accessible in research. This blurring of the line between research and clinical care is understandable, and perhaps even inevitable. But even if the gap is only transitory, such a blurring can have lasting implications, both by expanding obligations imposed on researchers, but also by challenging long-held ethical views. We explore this idea, focusing on how the dissolving distinction between research and clinical care has influenced the vigorous debate around how researchers should manage genetic findings (sometimes separated into primary and incidental or secondary findings) resulting from research.

Keywords: ancillary care, incidental findings, legal liability, research ethics, secondary findings, whole-genome sequencing

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Abstract

While the development of next-generation sequencing technology has had a paradigm-changing impact on biomedical research, there is likely to be a gap between discovery of therapeutic benefits in research and actual adoption of the new technology into clinical practice. This gap can create pressure on the research enterprise to provide individualized care more typical of the clinic setting because it is uniquely accessible in research. This blurring of the line between research and clinical care is understandable, and perhaps even inevitable. But even if the gap is only transitory, such a blurring can have lasting implications, both by expanding obligations imposed on researchers, but also by challenging long-held ethical views. We explore this idea, focusing on how the dissolving distinction between research and clinical care has influenced the vigorous debate around how researchers should manage genetic findings (sometimes separated into primary and incidental or secondary findings) resulting from research.

Keywords: ancillary care, incidental findings, legal liability, research ethics, secondary findings, whole-genome sequencing

There has been significant advancement of genomic sequencing technology in the decade since the completion of the Human Genome Project [1]. As the capacity to carry out sequencing has become more efficient, the cost of processing sequencing reactions has decreased dramatically; there has been a nearly 100,000-fold decrease since the sequencing of the first human genome [2]. The ever-decreasing cost of so-called ‘next-generation’ sequencing has made the use of this technology accessible to individual laboratories [3], and its use in medical research has become ubiquitous. These technological developments have fed long-standing enthusiasm regarding the potential contributions of genomics to the understanding and improvement of human health [4], and there is significant, publicly funded investment in bringing about this outcome in the foreseeable future [1,5].