Today's sessions were bursting at the seams with intriguing findings and thought-provoking discussions. The day consisted of four sessions, covering HBOC prevention, treatment of BRCA breast cancer, relevant challenges in genetic counselling, and a special interest group (SIG) to end off the day. I attended the SIG on next generation tumor sequencing, where a lively discussion on ethical and clinical challenges was sparked. Also, throughout the conference I have picked up a number of information sheets, some of which are pictured below. These will make for some interesting reading on the plane ride home!
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The first talk of the day was by Dr. Joanne Kotsopoulos from Toronto, Ontario. Dr. Kotsopoulos discussed evidence for the RANK signalling pathway and progesterone's involvement in breast cancer in BRCA1/2 mutation carriers. Current breast cancer prevention guidelines for carriers focus primarily on increased screening and preventative surgery. However, investigating pathways and other possible targets in patients with inherited BRCA1/2 mutations is a vital part of exploring wider options for cancer prevention. Dr. Kotsopoulos described that a RANKL (RANK ligand) inhibitor led to decreased carcinogenesis and proliferation of mammary epithelilial cells, and has proposed a clinical trial to further investigate the use of this inhibitor. Interestingly, this drug (denosumab) is used clinically in the treatment of osteoporosis!
This morning held quite a few other interesting talks. One that stood out to me was by Dr. Alison Trainer. She discussed the effort of population-based screening for HBOC risk in Australia. Dr. Ephrat Levy-Lahad had described earlier that since testing is performed on the basis of personal and family history of cancer, we inevitably miss carriers who don't have a strong family history of breast and ovarian cancer. One possible answer to this challenge is to implement population-based screening. Dr. Turner and her team found that 81% of BRCA1/2 mutation carriers had no clear high risk factors and would NOT have been offered testing by current criteria! Without population-based testing, these women would have slipped under the radar. There was some interesting discussion on how far to extend population-based screening. If we implement population-based BRCA1/2 testing, why not include Lynch Syndrome genes too? The debate remains! |
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Professor Nicholas Turner gave a fascinating talk on the treatment of breast cancer in BRCA carriers in today's second session. I appreciated his in-depth explanations of PARP inhibitors, which I was first introduced to in my cancer biology course at UFV. Dr. Turner described how PARP inhibitors trap the PARP protein on DNA single stranded breaks, which ultimately results in PARP colliding with a replication fork. PARP inhibitors (and platimun based therapies too!) have been shown to be effective in BRCA1/2 mutation carriers with advanced cancer.
Ms. Christine Kobelka and colleagues from California provided a unique look at screening and strategies for elderly BRCA1/2 carriers. They performed a retrospective chart review and were specifically focused on women who lived to be 75 years or older. In fact, this came to only 6% of their total BRCA1/2 carrier group! They found that almost 60% of elderly female carriers had a regular mammogram every 1 to 2 years, revealing that age didn't stop them from regularly pursuing screening! I had never seen a study like this before. It is encouraging that the majority of BRCA1/2 elderly patients still have a keen interest and motivation to pursue screening. |
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Dr. Bartha Knoppers had me very engaged with her talk on the ethical and legal challenges of genetic counselling. She provided interesting case examples to illustrate how clinicians must balance many duties (duty to warn, duty to follow-up etc.) and are faced with ethical decision making on a regular basis. Her talk widened my perspective and I was thankful to hear such clear explanations! In addition to clinicians' duties, labs have immense responsibility when it comes to data sharing and ensuring that their information is up-to-date. Dr. Knoppers gave a tragic example of a lab that did not update the status of a particular variant, even though the variant had been reclassified as pathogenic. A little boy had been born with this variant, and sadly passed away. The take home message was that data sharing (and subsequent updating) across labs is beyond important - it is vital for ensuring the best patient care.
During the final session of the day, I enjoyed an extremely engaging series of short talks and discussion time at the SIG. Adam Buchanan, Britta Weigelt, and Jorge Reis-Filho led the discussion through everything from mutational signatures to the challenges that clonal hematopoeisis introduces to genetic testing. Although the session's topic was tumor sequencing, the participants' questions led the session in all sorts of directions. For example, if a child is tested, is it the child's right to know their test result? Should this be decided by the parents or the clinician? If a test identifies an incidental finding, should the patient be informed? How do we balance an individual's right to know with their right NOT to know? Another interesting point was raised concerning the view of genetic tests as very different to other medical tests. Will genetic tests always be viewed in a different way as other medical tests, such as ECGs and routine bloodwork? Daniel Silver argued that attitudes towards genetic testing will change over time, and gave the example that attitudes towards HIV testing have evolved tremendously. In response, Dr. Reis-Filho brought up an excellent point that HIV tests have just one parameter: HIV status. Genetic tests, however (especially in the case of large panel tests), have many, many parameters, making interpretation and management much more complex. I was so glad to have attended this session! |
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After the day's talks were complete, I joined a group of genetic counselors from BC Cancer's Hereditary Cancer Program (including my research supervisor, Angela Bedard) and another lovely lady from LifeLabs for dinner at Le Jardin Nelson in Old Montreal. Playing in the background while we ate delicious savory crepes was a band fully equipped with a double bass, drums, and saxophone (tenor and alto!) The covering of the restaurant is entirely composed of huge umbrellas, giving the place a nice open ambiance. If you're ever in Montreal, I recommend giving this place a try!
Tomorrow is the final day of the conference. In store are further interesting talks and a lecture in honor of Marla Miller. Following this, I will be hopping on a plane and returning back home. It's hard to believe how quickly this conference has gone considering just how much has been packed into such a short time! Looking forward to what the day holds tomorrow...
~ Vivienne |
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