Jordi Bach Griera - Healthcare scientist

What does your job involve?

I work in the East Genomics (opens in a new tab) inherited cancer team focused on analysis and reporting of genetic tests that help to assess inherited risk factors contributing to breast/ovarian cancer, Lynch syndrome, prostate cancer or colorectal cancer.

This can include helping to identify people carrying genetic variants that significantly increase risk of cancer so that actions can be taken to avoid it.

This includes specific activities such as:

• Receiving referrals from specialist clinicians and ensuring eligibility for testing in line with the national genomic test directory (opens in a new tab). This can also include working with the solid cancer teams in the lab to determine if a genetic change detected in a tumour sample may be present in the patient's DNA.
• Planning of targeted sequencing tests via Sanger sequencing and analysis of results.
• Planning and analysis of tests for genetic changes known as copy number variants, where parts of the DNA are duplicated or deleted.
• Analysis and validation of next generation sequencing results, where panels of genes are examined for changes.
• Curation and interpretation of changes in cancer risk genes using available online tools and resources.
• Supporting the training and development of new staff.

What is your proudest achievement / project you have worked on as a healthcare scientist?

For me, the most important part of the role is making a difference for patients. Every time the team can send out a finalised report to a clinician is an important moment.

As NHS staff at Addenbrooke's our goal as healthcare scientists is always to work hard to deliver reliable, meaningful results for patients.

We are constantly striving to enhance and improve our service. Ensuring that accurate results can be returned within turnaround times.

How are advancements in science and technology shaping your role?

I think genetics is a rapidly progressing field that is playing, and will continue to play, an increasingly significant role in healthcare.

Exploring genes that contribute to cancer risk is very important as it offers the potential to help people to avoid cancer before it happens. Disease prevention is a key aspect of how we can all live healthier in the future.

Increasingly, using genetics to guide use of drug treatments through precision medicine and pharmacogenomics is also becoming vital. It provides ways to deliver more effective treatments to patients, while also reducing side effects.

For example, in pharmacogenomics, knowing how a patient's body metabolises a specific drug, ensures that they can be given a more precise dose, or allows them to avoid treatments that their body will not respond well to. While this is already available in a few specific cases, this approach has much more potential.

Similarly, there are many more opportunities for precision medicine, where genetics can help to choose the most effective treatment. For example, PARP inhibitor drugs can be used in breast cancer to treat patients carrying changes in the genes BRCA1 and BRCA2.

Can you share an example of a recent scientific advancement in your field?

This recent research publication "Site-saturation mutagenesis of 500 human protein domains" could help to identify many more genetic changes that could be used in future to inform the diagnosis and treatment of patients.