News vom 06.03.2017
Wann: Dienstag, 14. März, 15-16 Uhr
Dr. Danya Vears, Leuven University
Return of results from genomic sequencing
Whole genome/exome sequencing is revolutionizing clinical practice. By identifying the genetic cause of disease in previously undiagnosable patients, these next generation sequencing technologies have the potential to influence treatment and provide valuable information for genetic counseling purposes. However, these technologies can also identify additional genomic information that is unrelated to the patient's current illness, such as such as variants of uncertain significance or mutations in disease-causing genes extraneous to the clinical question, also known as secondary findings. Recommendations by professional bodies about whether these types of findings should be reported are inconsistent and often lacking in specific guidance and little is known about the reporting practices of laboratories following next generation sequencing.
In this seminar, Dr Danya Vears will discuss the issues around deciding which results should be returned from next generation sequencing, drawing on the findings of her qualitative research, in which she interviewed laboratory personnel in Europe, Canada and Australia, to explore reporting practices for diagnostic next generation sequencing. She will focus on their practices for the reporting of variants of uncertain significance and secondary findings, and how decisions about which variants to report are made. Finally, she will consider whether variation in reporting of these variants matters and, if so, why, and the extent to which patient choice should be taken into account.