Talking genomics

Q&A with Sean Whittaker – Consultant Dermatologist at Guy’s and St Thomas’, Professor of Cutaneous Oncology at King’s College London and joint lead for the Cancer Clinical Academic Group of King’s Health Partners.

What is genomics? Genomics is the study of changes in our DNA which can cause diseases, specifically inherited diseases, which are often the cause of rare conditions. Damage to DNA is one of the main causes of cancer. In England there is a national genomics programme called the 100,000 Genomes Project which aims to sequence 100,000 genomes from around 70,000 NHS patients with a rare disease, plus their families, and patients with cancer.

Sean Whittaker- NEWS

How is Guy’s and St Thomas’ involved? Guy’s and St Thomas’ is leading the South London NHS Genomic Medicine Centre, covering the populations of South London and Kent, Surrey and Sussex. We’re working with our partners at St George’s Hospital, King’s College Hospital and South London and Maudsley, as well as NHS trusts across Kent, Surrey and Sussex, to deliver the national project locally and unravel the basic causes of rare, inherited diseases and cancers.

By working collaboratively, we will develop standard genomic tests for patients with complex conditions. These tests will ensure our patients have access to the same diagnostic tools, with the same accuracy as anywhere else in the country. We’ve had great success so far. South London is the top recruiter of cancer patients to the 100,000 Genomes Project and we are one of the highest recruiters of patients with rare and inherited diseases and their families. To date we have recruited more than 6,000 participants to the project.

What does it mean for patients? Advances in genomics will mean patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential for new and more effective treatments. We’ve already had some successes in treating rare, inherited diseases based on a better understanding of gene mutations and gaining the ability to identify damaged genes earlier. 

What is your main area of interest? My main area of interest is in complex skin cancers, both melanoma and lymphoma in the skin. My work is all about studying and analysing the causes of DNA damage, finding out which genes are damaged and, from there, finding new treatments. I work collaboratively with teams across universities and NHS trusts to gather information and research on mutations and damage. The more knowledge we have, the more options we will have for future treatments.

What are the challenges? One of the main challenges in genomics is getting people to participate in our research. We need people to take part in initiatives like the 100,000 Genomes Project so it can achieve its full potential and make a difference to how we diagnose and treat patients. When it comes to rare and inherited diseases, the biggest concern for patients and their families is the lack of a clear diagnosis. Without a diagnosis, it is difficult for patients and families to understand the condition and to access the care they need. In cancer the challenge is improving our knowledge. Most patients understand this is critical not only for them but for the future.

How will genomics improve healthcare in the future? I believe diagnostic tests and treatment will be greatly impacted by genomics in the next five years. Already we are working with lung cancer patients on diagnosing cancer through a blood test and treating their cancer with one tablet. Analysing DNA from a blood sample is a much less invasive procedure than a traditional biopsy and can be repeated throughout the course of treatment to monitor progress and inform future treatment decisions. We’re hoping to repeat this blood test, as well as one tablet treatments, for a range of cancers in the future.

First published in the Guy’s and St Thomas’ NHS Foundation Trust GiST magazine – Issue 24.

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.