Union

Earlier this year, I attended the European Academy of Neurology Congress. Over the five-day event, I noticed many discussions focused on precision medicine within both neurology and psychiatry.

The trend for precision medicine is becoming increasingly more important, and a key area of debate amongst both physicians and the wider healthcare community. During my time there, I joined conversations surrounding whether this is the right approach to take, or if research and clinical understanding is still in its infancy and ‘old school’ diagnosis is still far more reliant.

With a passion for Alzheimer’s and Parkinson’s research, below I have collated my key insights from the congress associated with the two neurological conditions.

Parkinsons Disease:
The Syn-Neuro-Ge system combines α-syn (a test to identify early stages of the disease before symptoms begin), neuroimaging and genetics (e.g., presence of PARK-PRKN gene) to make a diagnosis and predict early onset. However, the condition is underlined by biological heterogeneity with different genes being more prevalent across different areas of the world.

However, this doesn’t necessarily mean having a specific gene means you will go onto to have clinical presentation of the disease. α-syn is less sensitive in females and the presence of this does not mean the patient will go onto present with clinical symptoms. Similarly, patients can present with clinical symptoms and not have α-syn.

It poses the question: Could ‘precision’ do more harm than good?
HCPS were debating the ethics of using precision medicine for diagnosing Parkinsons Disease, questioning the benefits of someone knowing, when clinical presentation isn’t guaranteed. >80% of neurologists agreed that despite clinical advances in precision medicine, we’re not at a stage where this can be useful within the diagnosis of this neurological condition.

Alzheimer’s Disease:
The use of biomarkers for diagnosis is one of the biggest developments in the last 20 years, but often rely on PET imaging which is only available for specialists. Around 50-80% of patients are receiving a diagnosis without seeing a specialist, which poses the risk that a proportion of diagnosis are from a PCP, which could be wrong.

As the congress continued, the field debated whether CSF biomarkers and blood-based biomarkers could help ‘fill this gap’ as they are both more affordable compared to PET imaging. However, getting CSF fluid is invasive, 1/3 of patient refuse the procedure and there’s also a lack of standardization in testing. Although blood-based biomarkers are less invasive, there’s lower concentrations of biomarkers, meaning tests can be less sensitive and accurate.

Final thoughts
Overall, there’s questions as to whether the healthcare infrastructure is set up for precision medicine to be widely adopted, which would allow the right patients to be identified for disease modifying treatment. There’s also a lack of evidence around how biomarkers might present in different ethnicities.

 It’s clear that precision medicine is advancing, but there is still a lot of unknowns. From the congress it was clear that Neurologists are still heavily reliant on ‘old school’ diagnosis of these conditions, but precision medicine is viewed as a complimentary diagnosis approach.

If you would like to talk to us more about precision medicine, or find out more about our time at EAN, please reach out to HRW Synapse at HRW_Synapse@hrwhealthcare.com.

 

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