Frequently asked questions on Genomics research
This is a finding that meets the five criteria for feedback of incidental findings as specified in the Guidelines on genomics research. We also refer to the ACMG's list.
No. You should not actively search for mutations in these specific genes if the research does not otherwise focus on studying these genes. The guidelines of the National Committee on Health Research Ethics address how to handle these genes if they occur incidentally. An incidental finding is not something that should be looked for.
Yes. An incidental finding is not an end in itself. On the contrary, measures to minimise the likelihood of their occurrence are allowed. The focus of research is not patient treatment, and a diagnostic evaluation of the individual patient it therefore not made.
Since the purpose of research is to acquire new knowledge in a special area of interest, the project is allowed to focus on specific areas, e.g. to preferably generate bioinformatic data from specific regions of the genome.
In this way, the project can disregard data from other regions, e.g. regions of the genome where certain variants are known to significantly impact the health of the research participant. This can be achieved for example by not subjecting certain regions to bioinformatic processing. This could be done for example by disregarding the clinically relevant genes on the ACMG’s (American College of Medical Genetics and Genomics) list by not ”calling” variants or by filtering out all called variants of the genes on the list before any further analysis is made.
In this case, it must appear from the protocol that the selection is performed in such a way that data related to unwanted information are not generated or registered.
This is not known with certainty, but when hospitals are asked about this, they respond that incidental findings occur rarely in research.
5. How is the responsibility divided between the sponsor and the investigator in clinical trials of medicines regarding incidental findings?
The sponsor discloses individual incidental findings to the investigator, and the investigator is responsible for assessing the significance of the result and consulting a committee of experts. Please see questions 6-10 about the committee of experts.
The committee of experts must submit its assessment to the investigator, and it is the investigator’s responsibility to feed back relevant incidental findings to the research participant or to delegate this task to an appropriately qualified person/department.
If a research participant has opted out of receiving important health-related findings or has died, it should be assessed whether to contact relatives from the point of view of saving lives and preventing disability. It is the investigator who has overall responsibility for handling incidental findings with diligence and conscientiousness.
The committee of experts must assess the implications of incidental findings and whether they should be fed back to research participants based on the five applicable criteria and the procedure to be followed. The criteria are specified in the Guidelines on genomics research. The committee could count a clinical geneticist, a specialist physician in the field concerned or a molecular biologist. The committee could be set up on an ad hoc basis or through a collaboration with a department of clinical genetics at a hospital, or a committee could be established by the clinical ethics committee at a hospital.
7. Should a committee of experts for the assessment of incidental findings be established at each site?
No. It is sufficient to establish one committee of experts in the research project.
8. Can the committee of experts that is to assess potential incidental findings be established at hospitals?
Yes. The committee of experts can be established on an ad hoc basis for the specific research project, or an agreement can be entered into with a department of clinical genetics.
No. This is not a requirement. What is important is that the appropriate professionalism is present.
10. May the committee of experts established to assess incidental findings be established privately – e.g. if the sponsor is a pharmaceutical company?
Yes. The committee of experts can be established privately. What is important is that the committee possesses the required expertise, i.e. a medical specialist, a molecular biologist and a clinical geneticist within the disease area.