Amanda Pichini: Which healthcare professionals are involved in my genomic healthcare journey?

In this explainer episode, we’ve asked Amanda Pichini, Clinical
Director at Genomics England and Genetic Counsellor, to explain
which healthcare professionals you may come into contact with in
your genomic healthcare journey.


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: Which healthcare professionals are involved in my
genomic healthcare journey? I'm joined with Amanda Pichini,
Clinical Director for Genomics England, and genetic counsellor to
find out more. So firstly, when someone has a genetic or genomic
test, what kind of healthcare professionals might they come into
contact with? 


Amanda: Well, everyone has a different journey, and it can depend
on the type of test you have and the reason for having it. Some
tests might only look for a single gene. Some might look at many
genes, and some look for a very specific gene change that's
already known to be in someone's family. Some genomic tests are
there to find the cause of a person's diagnosis, understand more
about their cancer, or maybe to predict a future health problem
that they may have or that's in their family. 


So usually people start with their GP, who they go to with a
question about their health or their child's health, and this
could lead to them being referred to a clinical genetic service
or perhaps another specialist team.  


Florence: So, then what is the purpose of a clinical genetics
team? 


Amanda: Well, a clinical genetics team, in brief, aims to provide
people that have a genetic condition or are at risk of one with
health information, including information about prevention,
counselling support, and genomic testing, and they focus on the
whole family. 


Adults and children can both be seen in a genetic service.
Clinical genetics teams tend to focus on rare conditions and rare
predispositions to certain types of cancers, so really anything
that might have a strong genetic basis and could impact someone
at any stage of their life. A clinical genetics team is made up
of a range of roles, and that could include clinical genetics,
doctors, genetic counsellors, clinical scientists, and
administrative staff. 


Florence: Could you tell me a little bit more about each of those
roles?  


Amanda: Sure. I am a genetic counsellor, so I'll start with that.
Genetic counsellors are specially trained healthcare
professionals that help patients and families understand
information about their genomic health, as well as provide
guidance and emotional support. 


So, this could be about understanding their family history,
making informed choices about having a genetic or genomic test,
or helping them to come to terms with a result or a new diagnosis
and the impact that could have on them or their family. Clinical
geneticists are medically trained doctors that specialise in
genetic conditions. 


They understand the underlying ways that genetics can affect
health, and they use that to help make diagnoses for patients.
How about genomic scientists? These are often not seen directly
by patients, but they're vital to someone's genomic healthcare
journey. So clinical genomic scientists and genetic technologists
work in labs, and they're involved in processing patient samples,
working with those other healthcare professionals to select the
most appropriate genomic tests to perform and interpreting those
results based on the variance or genetic changes that are seen in
patients, which are usually summarised in a lab report. 


There's lots of other healthcare professionals that can also, um,
be in a clinical genetics team. That could include administrative
staff, family history coordinators, genomic practitioners or
genomic associates. They might help arrange appointments, gather
medical and family history details after a referral to help the
clinical team know what might be done next. 


Some genetic services also have psychologists, nurses, or other
allied health professionals embedded in their team or in
specialty clinics that they work with, and it's really important
that everyone is working together as a multidisciplinary team to
help those patients and families in their healthcare
journey. 


Florence: So, we know there are lots of different healthcare
professionals within the clinical genetics team. Are there any
other professionals involved in genomic healthcare as
well?  


Amanda: Absolutely. As genomics becomes part of routine
healthcare, that means there's lots of other healthcare
professionals involved in arranging genomic tests and giving back
results, or at least having initial discussions about genomic
tests before referring on to another specialist. 


So, some examples might be midwives, arranging screening tests
for women in pregnancy, a number of those screening tests have a
genetic or genomic basis. They might also refer families with a
history of a genetic condition whilst they're pregnant for more
specialist genetic testing. Many paediatricians are ordering
genomic tests for children that might be suspected to have a
syndrome or an underlying cause for their health or developmental
issues. 


And many nurse specialists like those who work with people with
cardiac conditions or neurological conditions. Might be involved
in arranging or discussing genetic testing. Final example in the
cancer world is oncologists who might often arrange genetic tests
that will help give information about someone's cancer. 


The last thing to call out isn't necessarily healthcare
professionals, but patient charity organisations are super
crucial to someone's genetic healthcare journey. It's really
important for families when they've had a new diagnosis or when
they're seeking information, and there are some charities that do
have healthcare professionals that work for them, like a nurse or
genetic counsellor or psychologist that may help to run a
helpline, for example. 


Florence: That was Amanda Pichini explaining which healthcare
professionals are involved in a genomic healthcare journey. 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.