John Pullinger: What is the diagnostic odyssey?

In this explainer episode, we’ve asked John Pullinger, Senior Bio
Sample Operations Manager at Genomics England, to explain what it
means to go on a diagnostic odyssey.


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.


The episodes mentioned in the conversation are linked below.


Hope for those with no primary findings

The impact of a genetic diagnosis on mental health



You can download the transcript or read it below.


Florence: What does it mean to go on a diagnostic odyssey? I'm
joined by John Pullinger, Senior Bio Sample Operations Manager
for Genomics England to find out more. So, John, first of all,
can you explain what we mean by diagnostic odyssey?  


John: Yes, of course. The diagnostic odyssey is a term used to
describe the journey that many people with rare conditions and
their families undertake to receive an accurate diagnosis, a
journey that takes on average over five and a half years. 


The rarity of the condition means that there are few, if any,
other people affected by it, for doctors to draw their experience
from. Some individuals might never receive a diagnosis. 


My job involves making sure that samples sent through the
Genomics England processes can travel smoothly from the NHS
hospitals to be sequenced and the results be reported back to the
individual. We try and minimise the amount of time that samples
and associated data is in our care.  


Florence: And for people listening who might not know, could you
explain why it sometimes takes a long time for people to receive
a diagnosis? 


John: There are estimated to be over 7,000 rare conditions. 


This means that healthcare professionals may not be familiar with
all of them and so may not recognise them or know how to test for
them. In addition to this, some conditions affect multiple parts
of the body. For example, skin, the heart, and the lungs. In
these cases, there will be a need to visit specialists from
multiple departments, and each will be looking specifically at
their own area. 


This could lead to referral loops where the patient needs to
consult multiple healthcare professionals, all of which
contributes to the time taken to receive a diagnosis. Since, for
the majority of rare conditions, there is an underlying genetic
cause. This means that most individuals who get a diagnosis will
receive one through genomic testing, whether that be whole genome
sequencing as offered here at Genomics England, or more targeted
panel testing. 


Typically testing will identify a particular gene, which is known
to be linked to a specific condition. For certain conditions, it
requires a real expert in the condition to even think about
testing for it. Sometimes a condition will present in a way that
is different to most other people who have it. So they may have
symptoms that others don't. This also adds to the buildup of time
taken to receive the diagnosis. 


Florence: So, you mentioned earlier, John, that the diagnostic
odyssey lasts an average of five and a half years. Can you
explain what kind of effect this long waiting time has on
individuals and their families? 


John: Absolutely. One aspect of the diagnostic odyssey that is
important to recognise is the physical effect of the as yet
undiagnosed condition that's present and affecting the individual
and their family on a daily basis. Those with rare conditions may
be affected by a range of emotions connected to the ongoing
journey that they're on, including feelings of isolation. 


Also stress and anxiety. The fear of unknown can have a massive
knock-on effect on the mental health of the individual and their
family. And it's important to recognise the signs of this so that
people can take steps to manage their mental health. Many rare
conditions first present themselves in children and young adults,
so considering the effects on their day-to-day lives is
especially important. 


Florence: If you'd like to learn more about how the diagnostic
odyssey can affect someone, listen to our previous podcast, “Hope
for those with no primary findings”, where Participant Panel
member Lisa Beaton, shares her experience of awaiting a diagnosis
for her daughter. And so, John, can we talk now about what
happens at the end of a diagnostic odyssey? 


John: A section of the odyssey that is essential to understand is
potentially getting a diagnosis. It may come as a surprise to
think that the diagnosis can sometimes be scary as well as a
potential relief to the family and also the individual involved.
But this reason the work of genetic counsellors is crucial to
help those with rare conditions, understand and adapt to the
medical, psychological, and potential reproductive
implications of their new diagnosis.  


Florence: Our previous podcast, “The impact of a genetic
diagnosis on mental health” covers this topic in much more
detail. So for my final question today, I wanted to ask whether
there are ways that families or individuals affected by rare
conditions can access support. 


John: We would recommend that anyone who might be going through a
diagnostic odyssey who wants to know more about their care to
contact their doctor or other healthcare professionals in their
genetics team, additional resources are also available online,
including the NHS website and charities such as Genetic Alliance
UK and SWAN UK. 


There are also lots of brilliant patient communities and groups
that you can get support from.  


Florence: That was John Pullinger explaining what it means to go
on a diagnostic odyssey. 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.