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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.
I’m Anna Middleton and I’m a social scientist from the Wellcome Trust Sanger Institute. I run projects that explore the impact of genomics on people. When you do a whole-genome sequence, you’re clearly looking at 20,000 genes and also the DNA between those genes, and there is a lot of information in there that you could choose to look at. But it’s not like doing an x-ray of the lung to explore pneumonia and then you inadvertently see a tumour you weren’t expecting, because in sequencing you have to overlay lots of computer algorithms to filter information because there’s so much of it. You don’t accidentally stumble upon things, but you can choose to look at things, or not look at things.
When you do a sequence. you’re usually trying to answer a clinical question like why has this person got breast cancer? Is it an inherited sort of breast cancer? But while you’re answering that question, you could choose to look at other things at the same time, if you wanted to. And that’s called searching for incidental findings, or it could be called looking for secondary findings (term used in the US), or it could be looking for additional looked-for findings, and that’s what Genomics England use. So they’re all talking about the same thing - making a choice to look for additional things unrelated to the clinical question you’re trying to answer.
Because the genome is so large, the question is what do you choose to look at? And you could choose to look at anything really. Ranging from genes linked to conditions that are preventable, treatable, that you can act on; through to genes linked to conditions you can do nothing about; through to genes linked to conditions you could pass on to your children; through to looking at how you respond to medications; through to uncertain data; there’s a whole range of things that you could choose to look at. So, the ethical dimension to this is, what do you choose to look at and who makes that decision and how do you interpret that data.
It’s very interesting choosing genes and conditions that will go on a list because it’s actually quite subjective. One person’s idea of something that’s serious and actionable is not the same as another person’s and it’s also possibly quite different from a patient’s perspective as well. The other thing to bring into this is what’s technically possible and what is the most easily interpretable, so all these things come into the decision-making about which genes go onto a list, that’s eventually used. But, from an ethical point-of-view, I’m interested in who’s voice is loudest. The decision has been made in the UK to only look for genes related to conditions that are serious and actionable.
The debate about incidental findings has been very interesting because we don’t actually know when you’re trying to predict disease whether it is actually going to happen or not. So, if you predict or try to foresee that somebody has a high-risk of getting breast cancer, and you’re uncertain about that, then they have a risk-reducing mastectomy and their ovaries removed. That’s really major surgery and you shouldn’t really be doing that on uncertain information. There’s a risk of procedures going wrong, quite profound impacts on health from having a preventative surgery that you many not have needed to have. So I think in the UK we are trying to be quite cautious and careful and give information to people that we are sure about.
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.
This article is from the online course:
Whole Genome Sequencing: Decoding the Language of Life and Health
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Whole Genome Sequencing: Decoding the Language of Life and Health
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