Whole-genome sequencing in health care

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

“…European guidelines also recommend disclosure of incidental findings where prevention or treatment is available for the related condition. 13 Some have argued that, use of whole-genomic testing, whereby IFs are actively sought and disclosed to patients, is in fact a form of population screening, analogous to newborn screening (NBS) or screening for hypertension. 14 With this in mind, frameworks similar to those used in screening programmes could be adopted when assessing disclosure of IFs.…”

Whole genome sequencing as a diagnostic tool: Participant-centered consent

“…If information surfaces that is unrelated to these complaints, it affects the respective roles of both doctor and patient. The initial clinical test in effect turns out to be a form of screening [21,26,27]: a means to detect non-symptomatic diseases in subjects who have not taken the initiative with regard to this discovery.…”

“…Other information may be (too) difficult to interpret or of unclear significance, and therefore of contested worth. A question arises, therefore, about how much and what information that surfaces in the process of analysing the genome sequence should be communicated 7 By comparing the data with her parents' genome [21]. and under what conditions.…”

Dynamic Data-Driven Modeling for Ex Vivo Data Analysis: Insights into Liver Transplantation and Pathobiology

“…Genomic data are obtained in the form of DNA, usually by polymerase chain reaction (PCR) amplification followed by sequencing of genes of interest. Whole-genome sequencing, historically used predominantly in microorganisms [23], will likely play an increased role in human research in the future as technology improves and costs continue to decline [24]. The primary sample type for the transcriptome is mRNA, usually sampled on array chips that can bind and measure tens of thousands of known transcripts simultaneously [25].…”