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Ana Pataki: Hope in Sarcoma Diagnosis Through Advancements in Whole Genome Sequencing

Ana Pataki/LinkedIn

Aug 26, 2025, 12:50

Ana Pataki: Hope in Sarcoma Diagnosis Through Advancements in Whole Genome Sequencing

Ana Pataki, Founder at EmPOWERa Consulting, shared on LinkedIn about a recent paper by James A. Watkins et al. published on BJC:

“My father died of soft tissue sarcoma (C49.4). The time between his diagnosis and funeral was just five (5) months.

That short time was a gift – we used it to say goodbye, to love, and to be present.

His cancer was deemed ‘chemo-and radio-resistant’ by the conciliar board. No surgery, no real options. Just time. The time we were lucky to have, even if it was too brief.

Now, I am approaching this again – with a different lens. Working with healthcare professionals, I often heard the same: ‘Sarcomas are usually untreatable.’

Then, I came across this article published in the British Journal of Cancer (Nature, 2024):

Its conclusions gave me something I didn’t expect – a spark of hope.

Until this, every mention of sarcoma was bringing up the feeling like the little girl in this photo, without the strength to help her own father and clueless of how to continue with the struggle.

Here’s what it says in short:

Whole genome sequencing (WGS) can improve diagnostic accuracy in sarcomas, helping to distinguish between histologically similar tumors.
It can identify actionable mutations that may guide targeted therapies. WGS also plays a role in reclassifying misdiagnosed cases, which can lead to better treatment planning.
Overall, it’s a step toward personalized care for sarcoma patients — something desperately needed in such rare and complex cancers.

For hashtag#patients and hashtag#families, even a small step forward matters.
It’s a start. It’s hope.

So, if you are:

a medical oncologist,
a researcher in sarcomas or rare cancers, or
working on genomics and personalized medicine,

I’d truly appreciate reading your experience and opinion on the role of hashtag#WGS in diagnosing and managing sarcomas.

Is this the direction we should be investing more in?
What are the barriers?

Let’s talk – because behind every sarcoma diagnosis is a story like my father’s.

And perhaps, a future that doesn’t have to end the same way, and some other little girl will do everything she could to help her father.”

Title: Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma

Authors: James A. Watkins, Jamie Trotman, John A. Tadross, Jennifer Harrington, Helen Hatcher, Gail Horan, Sarah Prewett, Han H. Wong, Sarah McDonald, Patrick Tarpey, Thomas Roberts, Jing Su, Marc Tischkowitz, Ruth Armstrong, Fernanda Amary and Alona Sosinsky

Read the full article.

Ana Pataki

More posts featuring Sarcoma.

Ana Pataki cancer Fernanda Amary & Alona Sosinsky Gail Horan Han H. Wong Helen Hatcher James A. Watkins Jamie Trotman Jennifer Harrington Jing Su John A. Tadross Marc Tischkowitz OncoDaily Oncology Patient Advocacy Patrick Tarpey Ruth Armstrong Sarah McDonald Sarah Prewett sarcoma diagnosis Thomas Roberts

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