Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.
Danya F VearsKarine SénécalPascal BorryPublished in: Human mutation (2017)
While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported. Little research has been conducted exploring which of these variants are reported in practice. Twenty-six interviews were conducted with 27 laboratory personnel, representing 24 laboratories in Europe (12), Canada (five), and Australasia (Seven) to explore their reporting practices. There is considerable variation between laboratories in the reporting of UF. While some limit their reporting to findings that are relevant to the clinical question, others report UF to varying degrees. In addition, most laboratory personnel interviewed said that their laboratories do not actively search for secondary findings in disease-causing genes unrelated to the clinical question, such as those suggested by the American College of Medical Genetics and Genomics. Our study highlights that laboratories are still grappling with decisions about which UF to report from NGS and are calling for more guidance.
Keyphrases
- adverse drug
- healthcare
- copy number
- primary care
- end stage renal disease
- genome wide
- ejection fraction
- single cell
- clinical practice
- chronic kidney disease
- clinical trial
- emergency department
- gene expression
- prognostic factors
- peritoneal dialysis
- climate change
- dna methylation
- risk assessment
- electronic health record
- quality improvement
- bioinformatics analysis