Commitment to research
The genetics clinic is part of the Division of Medical and Molecular Genetics at King’s College London. We are committed to genetic research and academic excellence.
We have a dedicated research office, enabling us to recruit patients to high quality clinical research studies sponsored by both GSTT, part of the Biomedical Research Centre, within King’s Health Partners and the UK Clinical Research Network. The UKCRN provides the infrastructure and support to develop joint initiatives and promote partnership and UK-wide working wherever possible for patient benefit. This is especially pertinent in rare diseases, where recruitment numbers per centre will be low, but across the UK could provide sufficient numbers to answer a research question, to help clinicians, scientists, researchers and patients understand more about the disease.
Our current research portfolio includes many studies for patients with a known cancer predisposition gene mutations, trying to understand more about the epidemiology of the disease particularly in BRCA1 and BRCA2 (EMBRACE Study) or prostate cancer (GENPROS). For those without a known identified cancer predisposition gene, there are targeted gene discovery studies including CORGI and SCOTTY for colon cancer, Human Genetics Disease for kidney cancer and paragangliomas/phaeochrocmocytomas, EUROPAC for pancreatic cancer, BOCS for breast and ovarian cancer, UKGPC for prostate cancer, FACT for childhood tumours and IHCAP for rare cancer types or multiple primary tumours. Another study, BRCA Protect is recruiting women with Lynch or BRCA1/2 mutation carriers without cancer.
Further studies are also helping us to understand the mutational signatures in humans (INSIGNIA) or the effect of splicing and disease. In addition, we have studies for children with intellectual disability (BINGO and IMAGINE) or NF1 (EDEN). Some of our patients are taking part in interventional studies which include CaPP3 in Lynch syndrome and drug trials in patients with Huntington’s Disease or children with Achondroplasia, in conjunction with other medical teams at GSTT.
The research portfolio is constantly changing and we want to encourage patients to consider taking part in research. Often, study recruitment can occur on the same day after your appointment with the clinical genetics team, or if the study requires multiple samples, a dedicated clinic slot in a nurse-led research clinic. We have a display in the clinic waiting area at Guy’s to showcase current research studies. Please ask about studies during your appointment. Your involvement could be vitally important in discovering genes responsible for cancer and other rare diseases, as well as discovery of future potential treatments for the next generation. And to those who have taken part in research in the past, thank you, every participant matters. Your contribution has made a real difference.
100,000 Genomes Project
Guy’s and St Thomas’ NHS Foundation Trust is the lead organisation for South London Genomic Medicine Centre (GMC) which was set up in 2014 as part of the first wave of GMCs established by NHS England to deliver the 100,000 Genomes Project and transform the provision of genetic and genomic medicine services. South London GMC includes King's College Hospital NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust and South London and Maudsley NHS Foundation Trust as Local Delivery Partners, as well as a number of alliance partners (including the Health Innovation Network, Viapath, King’s College London, St George’s University London, Kent Surrey and Sussex AHSN, Genetic Alliance UK, Macmillan Cancer Support). The GMC covers South London as well as Kent, Surrey and Sussex populations.
In addition to recruiting patients to participate in the 100,000 Genomes Project and processing samples in accordance with requirements for Whole Genome Sequencing, South London GMC is delivering an ambitious transformation agenda to improve the quality and equitability of genomic medicine services for our patient populations. This includes integrating new molecular diagnostic testing techniques for patients with cancer into standard clinical practice, and broadening the use of genetic testing to a wide range of clinical specialties. The GMC also has a wide educational portfolio, including an MSc programme in Genomic Medicine, which is used to ensure clinical teams have the skills to deliver this rapidly changing area of medicine.
Participants will be eligible to take part in the 100, 000 Genomes Project if they are affected by certain rare diseases or have cancer and meet the disease-specific eligibility criteria stipulated by Genomics England. The list of eligible rare diseases, information on the process of taking part and the samples required for analysis are available online.
Further resources for healthcare professionals including eligibility statements, project documentation and nominating new diseases for inclusion in the Project can be found online or on the South London GMC website.
A team of Research Practitioners are available to discuss the Project with patients and clinicians, obtain informed consent from participants and collect the blood samples required by the Project if necessary. To refer a patient to the Project or to find out more about the Project, email Genetics100k@gstt.nhs.uk or call 07766 992320.