Response to Lindor et al.

Abstract

Preserving personal autonomy in a genomic testing era | LINDOR et al Letters to the editor Group A: No specific medical management can be offered to change the most significant, serious, or debilitating aspect of the disease (scores 9-10). Genes in published Bin 2c scored a mean of 9.3, suggesting some agreement on lack of treatability. However, we have 1,445 OMIM entities that also have general lack of actionability. Not all are life threatening, but all are untreatable. Group B: Limited medical management is available, but the most serious aspects of the disease are not improved or fully prevented (scores 6-8). Group C: Medical interventions are recognized as helpful; however, medical interventions do not eliminate all the medical issues and risks associated with the disease (scores 3-5). Published Bin 1 had a mean score of 3.9, trending toward treatable but also indicating that the actions that can be taken incompletely address some disorders. Group D: Medical treatments and management for the disease are available that essentially restore ideal health (scores 1-2). Thirty-two entries from Bin 1 were in this category. Multiple other domains were scored in TRuST, including inheritance, childhood lethality, progressive nature, organ system/function affected (includes dementia), and severity (although it remains to be seen if it can be validated). One might want to know if an untreatable condition is very serious or rather minor, if opting in or opting out of knowing one's status. There are no data to support one classifying system over another, nor have real-world preferences and needs been distilled for clinical WES/WGS. We will share lessons learned as we refine and attempt to validate the TRuST domains to determine what is useful or useless to provide useful choices for our patients.

Cancer Pharmacogenomics: Early Promise, But Concerted Effort Needed

“…We need to generate both laboratory and clinical consensus methods to decide which variants in which genes merit clinical action. (10)…”

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

“…This metric explicitly recognizes that actionability is a continuum, not a binary state. 8 , 9 That being said, we think that it is vital to define a core set of gene–disease pairs that reach a sufficient threshold of clinical actionability to be considered as part of the routine results of a genome-scale diagnostic test.…”

Effects of a 12-WKS Aquatic Training Program in Body Posture and Balance

“…3 The functional posture was assessed based on the Berg's balance scale (BBS). 1 Data variation was analyzed with ANOVA two-ways (group vs program duration) measures (P≤0.05). Results A significant effect from the program duration was observed in US (p<0.01), FR (p<0.01), RT (p=0.05), TUG (p<0.01) and BBS (p<0.01).…”