Table 3 Researcher perspectives and approach to the identification of incidental findings
From: Experiences and perspectives on the return of secondary findings among genetic epidemiologists
Question/response | N (%)a |
|---|---|
As a PI/key personnel on a project that enrolls research participants, what type of findings do you believe should be returned, regardless of what your current consent form says? Check all that apply. | |
Actionable findings, such as PKU, where a medical intervention exists | 40 |
Clinically validated findings, such as BRCA1/2, which would require additional counseling | 33 |
Variants with reproductive/family planning implications (carrier status) | 18 |
Variants with no known significance | 2 |
Other | 10 |
If for any of your projects, you analyze secondary data (e.g., from a repository, dbGaP, WTCC, and/or through a consortium), what do you believe your obligation is, if any, to return genetic results to study participants? | |
Contact the PI of the study that enrolled the study participants, and provide the finding | 58 (33) |
Nothing—the PI should have already found any important results | 14 (8) |
Nothing—I am not covered on the PI’s ethical review (IRB), so I have no legal, moral, or ethical obligation | 24 (19) |
Not applicable—I only analyze primary data | 45 (26) |
Other | 25 (14) |
How do you approach the identification of “incidental findings” (potentially disease-causing variants with clinical relevance)? | |
I intentionally filter out genetic variants not relevant to the medical question I am studying | 6 (4) |
I do not search the data for genetic variants that do not have a potential association with the medical condition I am studying, but I do not intentionally filter them out | 104 (61) |
I intentionally search the data for known variants that I believe have clinical relevance and make a note of them | 9 (5) |
I intentionally search the data for all known variants regardless of their clinical relevance and make a note of them | 22 (13) |
I do not worry about incidental findings or do not have the level of genetic data (GWAS or ES/GS) to observe them | 31 (18) |
The ACMG has made formal recommendations on the return of incidental findings: “We recommend that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes…” and provide a list of 56 genes with “known pathogenic” or “expected pathogenic” sequence variation. Do you think that the results of sequencing conducted in research studies should follow these same recommendations? | |
Yes | 40 (23) |
No | 70 (43) |
Don’t know | 65 (37) |
Do you feel that genetic epidemiologists have a different perspective and/or approach to incidental findings and return of results than researchers/professionals in other areas of genetics (medical genetics, genetic counseling, molecular genetics, etc.)? | |
Yes | 92 (54) |
No | 21 (12) |
Don’t know | 57 (34) |
Should there be separate policies or professional guidance regarding incidental findings within genetic epidemiology studies? Please provide an explanation for your response. | |
Yes | 77 (45) |
No | 40 (24) |
Don’t know | 52 (31) |
