Care & Support

We are busy creating some information to show national and local care and support resources in the UK & Ireland, which we hope will be of use. We are also trying to build a buddy system and set up regional networks. These things take time, especially when it’s all done voluntarily in people’s spare time, so please bear with us. In the meantime, there are some useful links below, including a link to the official UK screening guidelines for PHTS.

Ian – Spring 2018

Screening Guidelines

This is the link to the official UK screening guidelines for PHTS patients in the UK from the UK Cancer Genetics Group (UKCGG) –
http://www.ukcgg.org/news-events/news/pten-management-guidelines/
which includes:
Guidelines for management of tumour risk – http://www.ukcgg.org/media/1099545/pten_management_-_cgg_4may2017.pdf
National Audit of Screening Advice given to PHTS Patients – http://www.ukcgg.org/news-events/news/pten-management-guidelines/pten-national-audit/

The guidelines were ratified by the UKCGG which is the representative national body for Cancer Genetics. CGG is part of the British Society of Genetic Medicine http://www.bsgm.org.uk

The guidelines in the U.S. can be found on the National Comprehensive Cancer Network website in the “NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast and Ovarian.” publication here:
https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf 
(requires creating a free login/account)
If you are not able to access the guidelines, a copy is held here on the ptenuki.org website: nccn genetics_screening Jul18

There are differences in opinion on screening in the patient and medical professional world, including across different countries, as there are cons (e.g. stress, false positives) as well as pros (e.g. identifying issues early) to screening. If you are worried, always seek proper medical advice.

 

Resources

British Society for Genetic Medicine: Map of Genetics Centres:
Nottingham University Hospital: Talking to children about genetic conditions:
Unique: After Diagnosis (a guide aimed at parents with children under 5):
Rare Disease UK: Living with a rare or undiagnosed condition – The emotional impact and effect on mental health:
Information on NHS Genetic Counselling services:
Mind: How to Cope when supporting someone else:
FIND: Further Inform Neurogenetic Disorders:
Cerebra Anxiety Guide – A Guide for Parents: