Genetics news and events
The emotional impact of living with a rare or undiagnosed condition
Do you have a rare or undiagnosed condition?
Or are you a parent or carer of someone with such a condition?
Your chance to take part in research
Living with a rare or undiagnosed condition can have a huge impact on patient and families, and a recent patient experience report has shown that many individuals are not getting the emotional support they need.
Please help us to gain a greater understanding of the relationship between mental health and rare disease by completing an online survey for Rare Disease UK.
Your participation in the survey will allow us to find out more about:
- your experiences of living with a rare or undiagnosed condition, or caring for somebody with a rare or undiagnosed condition, and particularly the emotional impact this has had
- your thoughts about accessing psychological and emotional support services
- how you think things could be improved
More information about the study, and links to sources of support, can be found on the Rare Disease UK website.
The survey is completely anonymous and will be open until Sunday, 10 December 2017.
Genomics England - 100,000 Genomes
Genomics England is creating a lasting legacy for patients, the NHS and UK economy through the sequencing of 100,000 genomes. The main goal is to transform the application of genetics to healthcare in the NHS by understanding more about rare diseases and cancers. By learning more about genomes, we can identify the cause of genetic diseases and we may be able to help improve treatments. This information may help us better care for our patients, whilst also providing data that could be important for other family members too.
Fast, low cost, whole genomic sequencing is now affordable in the NHS.
The aims of the project are:
- patient benefit
- new scientific insights and discovery
- accelerating the uptake of genomic medicine in the NHS
- stimulating and enhancing UK industry & investment
- increase public knowledge and support for genomic medicine
For the week ending 8 April we had a total of 294 samples collected across genomic medicine centres across the UK (267 for rare disease and 27 for cancer), giving a grand total of 7,881 samples collected to date. This is fantastic.
For more information, please visit the website www.genomicsengland.co.uk
Lynch syndrome information and support event – May 2016
On Monday, 9 May 2016, we held an information and support evening for our patients and relatives affected with lynch syndrome. Lynch syndrome is an inherited condition which predisposes individuals to developing bowel cancer, endometrial cancer (in women) as well as some other cancers. We have approximately 130 patients with lynch syndrome in the Wessex area (which covers Hampshire, Dorset, Wiltshire, the Isle of Wight and the Channel Islands).
We were lucky to have presentations from a number of speakers including Mr Nicholas Beck (consultant bowel surgeon) and Dr Henny Lukman (consultant obstetrician). Mr Beck and Dr Lukman both for for our Trust and see some of our patients with lynch syndrome to discuss cancer screening and surgery. We also had presentations about a number of research studies that people with lynch syndrome may be eligible to enrol into. (You can find copies of their presentation slides in the downloads section on the right-hand side of the screen).
At the end of the evening we held smaller discussion groups (facilitated by various members of the genetics team, Mr Beck and Dr Lukman) on topics such as sharing information with relatives, risk-reducing surgery and cancer.
We have taken on board your comments about the day and time of the event and hope to hold the next lynch syndrome information and support event on a Saturday morning in 2017 - date and time to be confirmed.
If you have any queries about lynch syndrome or any aspect of genetics, please do contact any of the cancer genetics team.
Athalie Melville, principal genetic counsellor
BRCA education and support morning - November 2014
Over 100 people joined us for our sixth annual BRCA education and support morning in November 2014. We've previously held the event in various locations around the Wessex region and for the first time we were in Southampton at the Hilton Hotel. The weather was reliably rainy - which also seems to be an annual event.
Each year we invite a guest speaker to offer specialist information on an aspect of risk management for both men and women who are BRCA carriers. We also offer the opportunity for attendees to share their experiences in a small group setting. This year Dr Caroline Rubin was our main speaker and she updated the group on breast screening for women at high risk.
We also like to update our attendees on changes to national guidelines and share information on new and ongoing research studies, together with results from completed studies.
Below is some feedback from attendees on what they found helpful about the day:
"...meeting people in the same situation and discussing with them thoughts and opinions."
"The small group discussion. I needed to hear some positive stories."
"Some useful info and really good talking, talking to others about their experiences."