|
|
|
|
|
|
|
|
abstract
Background
Genetic
participation in gynaecological oncology multidisciplinary team
meetings (MDT) may identify the sentinel cancer in women with hereditary
breast-ovarian cancer syndrome or Lynch syndrome.
Aims
To
identify the changing patterns of genetic referral from 2010 to 2014
and the outcomes of referrals through clinical MDT case review.
Materials and Methods
Medical
records of cases of gynaecological cancer presented at the MDT meetings
and genetics databases were reviewed to determine the frequency and
outcomes of recommendations for genetic referral between 2010 and 2014.
Results
Four
hundred and sixty-two women of 2523 cases reviewed were recommended for
referral, increasing from 8% in 2010 to 25% in 2014. However, 167 of
462 patients (36%) had not registered with a Hereditary Cancer Clinic in
NSW/ACT, including 11 women with high-grade serous ovarian cancer and
seven women with abnormal MMR immunohistochemistry. Mutations were
identified in 40 of 165 women (24%) undergoing breast cancer BRCA1/2
testing and in ten of 25 women (40%) who underwent MMR genetic testing.
Eighty-one first- or second-degree relatives of these women have
undergone predictive testing, identifying 48 mutation carriers and 33
non-carriers.
Conclusion
Changing
indications and increased participation by a genetic consultant in the
weekly MDT meeting has led to increasing genetic referrals over the last
five years. Follow up of referrals needs to be addressed. With
decreasing costs of genetic testing and use of readily transportable DNA
collected through saliva or mouth swabs, we propose that distance
should not be a barrier to this model being extended to all centres
providing care to gynaecological cancer patients.
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.