The complex nature of deciding what to report

In this video, Dr Anna Middleton considers the complexity of deciding how to handle the vast amount of data that results from whole genome sequencing, and looks at the decisions that have been made in the UK.

She explores interesting questions, such as:

• Given the possibility to look at the whole genome, what do we choose to look at?
• Who makes this decision?
• Whose voice is loudest: how involved should the public be in making decisions about this process?
• How do we interpret the data and report it back to the patient or participant?

Anna explains that:

• In the UK, looking for information in addition to that which is related to the clinical question (ie the reason the person is having their genome investigated) is known as looking for incidental findings or additional looked for findings. In the US and in some other countries it could be called secondary findings.
• In the UK, a decision has been made to look for and report back only variation in genes that are linked to conditions which are considered ‘serious and actionable’.
• Disease prediction is very complex, and ideas about what information should be considered ‘serious and actionable’ are be subjective.

Making the right decisions about how to handle the data from whole genome sequencing is complicated and requires various different perspectives. This issue is a hot topic in genomics and will continue to be explored as we learn more about the genome.