The “right not to know” genetic risk information

ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
American College of Medical Genetics and Genomics
21 March 2013
http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf

Keywords: secondary findings, incidental findings, genome, genomic medicine, personalized medicine, whole-exome, whole-genome, sequencing

For example, sequencing could have areas of diminished or absent coverage in the genes examined for incidental findings that would be filled in by Sanger sequencing or other supplementary approaches if the gene were being evaluated for a primary indication.
In addition, while genome sequencing can provide increasingly reliable information on copy number variation and translocations, exome sequencing is currently less reliable, and neither technology can be used to measure tandem repeat size accurately.
For these reasons, we did not include some disorders where structural variants (e.g., translocations and inversions), repeat expansions, or copy number variations are the primary cause, and have not recommended that laboratories utilize orthogonal techniques to search for these variants in the genes named in the minimum list.

… Given these recommendations, the Working Group was concerned that a negative incidental findings report could be misconstrued by clinicians or patients as an assurance of the absence of a pathogenic variant, which is not always the case.

there is no single database currently available that represents an accurately curated compendium of known pathogenic variants, nor is there an automated algorithm to identify all novel variants meeting criteria for pathogenicity.

We recognize that this may be seen to violate existing ethical norms regarding the patient’s autonomy and “right not to know” genetic risk information.
However, in selecting a minimal list that is weighted toward conditions where prevalence may be high and intervention may be possible, we felt that clinicians and laboratory personnel have a fiduciary duty to prevent harm by warning patients and their families about certain incidental findings and that this principle supersedes concerns about autonomy, …

journalistic version:
http://news.sciencemag.org/health/2013/03/patients-should-get-dna-information-report-recommends
“[I’m] not sure we have the cognitive capacity.”

related:
https://franzcalvo.wordpress.com/2014/08/03/ignorance-is-bliss

Advertisements