American College of Medical Genetics and Genomics Incidental Findings: Genetic Counselors’ Views on Disclosure

The utilization of whole exome sequencing (WES) is increasing in the clinical setting. WES technology often generates incidental findings (IF), which are defined by the American College of Medical Genetics and Genomics (ACMG) as “results of a deliberate search for pathogenic or likely pathogenic alterations in genes that are not apparently relevant to a diagnostic indication for which the sequencing test was ordered” (2013). The ACMG has recommended identifying mutations in 56 genes when labs conduct WES. This group of 56 genes, termed the minimum list, includes mutations associated with 24 medically significant conditions. This study investigated genetic counselors’ views on disclosure of IF’s from the minimum list. A survey was sent to 3,209 genetic counselors through an e-blast to the membership of the National Society of Genetic Counselors; 88 responses were received. Approximately 75% of participants indicated they strongly support the expectation that patient preferences would be established by the lab prior to testing. This finding implies that, according to our respondents, the responsibility of informed consent should fall primarily on the lab rather than the clinician. This view is in direct contrast to the ACMG recommendations, which place the burden of obtaining informed consent on the ordering clinician (ACMG Board of Directors, 2013). We acknowledge that, at this time, labs are not capable of obtaining informed consent; they can only document what was obtained by the clinician. Once results are reported by the lab, 81% of counselors reported feeling an obligation to disclose any pathogenic mutations of genes on the ACMG’s minimum list, and 65% would disclose even with unknown patient preference. Although only 27% of respondents received a report containing an IF that they felt was inappropriate to return, 60% of genetic counselors feel that there are circumstances in which disclosure is inappropriate. Additionally, 79% of genetic counselors expressed great concern about storing undisclosed IF’s in electronic medical records since another clinician may unknowingly disclose unwanted information. These scenarios are more likely to surface as WES becomes more common in clinical practice. This study suggests the clinical genetics community could benefit from guidelines on management of undisclosed incidental findings and from the development of infrastructure to support that process