Adrianto Wirawan: What does 'no primary findings' mean?

In this explainer episode, we’ve asked Adrianto Wirawan, Director
of Bioinformatics Engineering at Genomics England, to explain
what the term 'no primary findings' means.


You can also find a series of short videos explaining some of the
common terms you might encounter about genomics on
our YouTube channel.


If you’ve got any questions, or have any other topics you’d like
us to explain, feel free to contact us
on info@genomicsengland.co.uk.


You can download the transcript or read it below.


Florence: What does ‘no primary findings’ mean? I'm joined by
Adrianto Wirawan, Director of Bioinformatics Engineering for
Genomics England, to find out more. So firstly, Adrianto, when we
speak about findings from genomic tests, what does this mean?
What are we looking for when we do a genomic test? 


Adrianto: Our DNA is made up of a long sequence of letters that
act like instructions for your body. 


Genomic testing analyses these letters to see if there are any
unusual patterns or changes that might change your health. You
can imagine your DNA as a book full of recipes for your body.
Every recipe tells your body how to make proteins that keep you
healthy, and sometimes there might be a typo in the recipe, like
missing an ingredient or mixing up the steps. This could result
in a health problem, just like how a changed recipe can lead to a
bad dish. 


On average, we would expect about 5 million out of our 3 billion
DNA letters to be different. And each of these, we call them a
genetic variant. Genomic testing is designed to examine some of
these variants to help inform our healthcare. So, for example, in
understanding why certain health problems happen and in choosing
the best treatment based on our unique genetic makeup. 


Florence: And what do we mean by primary findings? 


Adrianto: Primary findings mean that in a patient's genomic
testing, we identified a set of variants that is linked to the
patient's condition. The variants that we have makes us who we
are. However, not all of them cause a disease or contribute to a
health problem. our bioinformatics pipelines will automatically
prioritise variants of potential relevance to the patient's
conditions. Using this data, the NHS clinical scientists will
then determine whether any of these prioritised variants are
linked to the patient's condition and whether a genetic diagnosis
has been identified, which would explain why certain health
problems happen. 


Florence: So, then what happens when there are no primary
findings?  


Adrianto: When no primary findings are found, that means that no
genetic diagnosis has been identified. As developments are made
and our knowledge of the variance improves over time, additional
findings might be identified in the future. 


The clinical team responsible for a patient's care may request
reanalysis of data according to the national guidance, following
a change in the patient's clinical status to inform reproductive
decisions, or after significant new disease gene associations
have emerged. 


In addition, Genomics England also provides the diagnostic
discovery pathway where we focus on uncovering new diagnosis,
where the participants of the 100,000 Genomes Project, as well as
the patient's sequenced through the NHS Genomic Medicine
Service  


This is meant to be more equitable as we don't rely on the
clinical teams to raise individual separate requests. 


Florence: And finally, what do we mean by secondary
findings?  


Adrianto: Secondary findings are additional findings not related
to the conditions in which the patient was recruited for. For
example, if a patient was recruited for one type of cancer, but
perhaps we found variants linked to a different condition. We
explored secondary findings for the 100,000 Genomes Project but
we do not do secondary findings for the Genomic Medicine
Service.  


Florence: That was Adrianto Wirawan explaining what we mean by
‘no primary findings’. If you'd like to hear more explainer
episodes like this, you can find them on our website at
www.genomicsengland.co.uk. 


Thank you for listening.