Conversation about hereditary cancer with Assoc Prof Heather Thorne

18 Aug 2021

Professor Heather Thorne has been the national manager of kConFab since it started in 1997. This foundation brings together over 300 healthcare professionals around Australia and New Zealand, including clinical geneticists, breast surgeons, oncologists, psychosocial researchers, scientists, and community representatives. These professionals all work as one to find better health outcomes for families at high risk of breast, ovarian, and prostate cancer. 

A/Professor Thorne, how do you contribute to the hereditary breast and ovarian cancer space?  

Since being appointed national manager of kConFab twenty-three years ago, our group of health care professionals and community representatives have been able to develop criteria to facilitate a broad range of research activity by recruiting families who are at high risk of cancer due to the multiple cases of breast and ovarian cancer diagnosed in the family. 

We recruit all family members over the age of eighteen, including females, males and those with and without cancers. We aim to identify the genes associated with cancer and link the already discovered genes to lifestyle factors. While these lifestyle factors may have minor modifications, they can still add up to contribute to a “high risk” category and potentially a cancer diagnosis. 

We recruit our families through the national genetic clinics. If anything is found in our research of clinical significance, we hand the research results back to all family members via their genetic clinic of choice in Australia or New Zealand. 

Our foundation is one of the longest standing consortiums of any type. Much of our success is due to the family members who constantly give us updates about surgery and treatments received and new family members who are eligible recruitment for mutation testing. The families also inform their doctors and health care professionals about who we are and what we do. This network of communication has led to a virtuous cycle of research to clinical care, back to research that has resulted in better co-ordinated clinical care of women with familial breast and/or cancer and their families, informed by the latest research results.  

What changes have you seen since starting your research? 

In the beginning, we expected to have only 400 families Australia-wide that we could recruit, but since then, the number has grown exponentially to 2,000 families, and we are still recruiting.  

The first recognition was that there were more high-risk families of breast and ovarian cancer than we predicted. The BRCA1 and BRCA2 genes had just been discovered when we started, so we thought all 400 families would be carrying one of these gene faults (mutation). As we dove further into the research, we quickly found that only 10-20% of families carried one of these gene faults (mutation). This realisation set us up for a vast gene discovery program in 2000 and has been like a jigsaw puzzle, filling in newly discovered information, ever since.  

The genetic space is evolving at a tremendous pace, with new essays and studies coming out on other genetic risk markers, linked to lifestyle factors, for breast and ovarian cancer, which is becoming more personalised to the individual. There is more genetic information in addition to BRCA1and BRCA2 that will tell you about your lifetime risk of cancers by a certain age. This is a rapidly evolving area, gearing towards cancer prevention, and that’s what it’s all about—for the next generation to know their genetic risk as early as possible to prevent cancer using a variety of strategies.  

The most significant advancement has been through genetic technology, which has evolved dramatically in recent years. Up to 2010, we couldn’t even sequence the whole gene. Fast forward to today, where we can screen the entire genome or look at 300 genes in one experiment to try and find a genetic fault (mutation). The power of this technology means that we can identify gene faults (mutations) and relay that information back to families so they can take preventative measures if needed. 

We’ve also expanded the knowledge worldwide of at least eight other genes, in addition to BRCA1 and BRCA2, that are now known to be involved in breast and/or ovarian cancer.  This work continues as there are even more genes that we’re researching and exploring to determine if they have a role in cancer development. 

What trials/research are you working on currently? 

Over the last twenty-three years, one of our major projects has been working towards cancer prevention. We have been collecting donated normal breast tissue samples from women having their breasts removed to reduce cancer risk. After handing the normal tissue samples over to Professor Geoffrey Lindeman’s laboratory for his research project, his laboratory has been able to discover and trial a new cancer prevention medication. 

After collecting samples for so long, the kConFab team were thrilled to contribute to this discovery by providing a new cancer prevention option in the clinic for our young women who carry a BRCA1 gene fault (mutation). We understand not all of them will want to take this cancer prevention medication, but it gives some a choice to buy themselves some time before potentially surgical intervention.   

We’re also conducting research that involves following patients who use PARP inhibitors, a target gene therapy for individuals who have failed traditional treatment options such as chemotherapy and/or radiotherapy. We have seen patients on PARP inhibitors, go back to work, the gym, and lead a relatively ‘normal life.' Of course, PARP inhibitors don’t work for everyone, but we have seen enough men and women who have gone on this treatment to have 1-5 years or longer of good quality of life. We track these patients very closely and continue to test their biological samples so we can add to our research and clinical knowledge about who might be a good responder vs. a poor responder to this type of treatment.  

We have been able to contribute to extensive international studies that are producing a whole new generation of cancer treatments available to women and men with gene faults (mutations). Many of these therapies are looking promising and are another area that is also expanding with our research work. 

I think for the next generation, it’s going to be a very new world. It’s also important to recognise that we engage with many genetic counsellors and psychosocial researchers that work with people at high-risk of cancer to develop better strategies for prevention and improved communication in all aspects of a patient’s journey. By lessening the barriers and giving a better understanding of decision making around preventative surgery or medication— it will make that journey easier for the young women and men who are confronted with this decision-making process.  

What hope do we have for families with hereditary cancer in the future? 

Technology around genetics is so powerful these days. Working with many brilliant scientists and clinicians worldwide allows us to make discoveries and share those with our families and family members for better outcomes.  

We keep advancing, and our findings now are even better than what they were five years ago. We have 50-60% of the jigsaw complete for an individual’s risk assessment— but that knowledge is growing all the time. 

Within the next five years, I believe there will be more updates so that an individual will go to their health professional and get a good assessment of what their breast or ovarian cancer risk is over their lifetime. This will allow an individual to make more accurate decisions on cancer prevention strategies and by what age. 

What advice do you have for those with genetic mutations? 

Since the whole area has been evolving constantly, if you haven’t spoken to your GP and/or a genetics clinic over the last five+ years—make sure you do that. It’s worth making an appointment to get any updates on the advances in the previous 5-10 years and what you might be able to do better for improved surveillance and risk assessment. 

There are updates on MRI eligibility and other advice based on new family history and information the clinic will have. As new genes have been discovered, most clinics have retested previously tested samples for new genes—but it’s worth double-checking to make sure this new analysis has been performed. 

What’s your advice for families starting conversations about hereditary health? 

Having a discussion on this topic amongst family members can be understandably difficult for some. There will be those who want to jump in headfirst and get any information they can, while for others it can take a while to process all the issues. 

We encourage everyone to have the conversation. There are many health professionals that can help families find the best ways to talk about their family’s cancer history linked to their personal risk. There are better surveillance programs for cancer prevention or early detection. Knowledge is power. People need to be empowered to make decisions that will be best for them. 

How important are organisations like Pink Hope for those working in genetic cancer research? 

Pink Hope has been invaluable to everyone involved in kConFab for many reasons. We’re not fabulous communicators to patients or the community about what we do and understand there needs to be more than one avenue to get the message across. So, we are grateful that Pink Hope has been able to take our message and new findings and help us translate them to high-risk men and women in the community. 

Through Pink Hope, we have also recruited 100’s of young women who we couldn’t have connected through genetic clinics in Australia. This organisation has been a great source of recruitment for new families Australia-wide and an unbelievable family connector. 

This year, we have chosen Associate Professor Heather Thorne to be the face of “Fearless.” Here’s what it means to her… 

I have been incredibly privileged to be a part of this group of 300 health professionals who strive for greatness daily within their research and studies. We have been fearless for the last 25 years and have stuck together and worked together as one. We have not moved off this path and stay focused on the genetic space. We’re passionate and committed to getting new updates and findings and improving the clinical outcome of our high-risk families. 

We have had to push through many barriers to get our clinical findings to our families and provide them with better clinical services. Our team members have fought for Medicare rebates for MRIs as a cancer prevention strategy, and all our genetic clinics were fearless in pushing the federal government for a rebate for genetic testing. I’ve been lucky to work with people who have stopped at nothing to have the back of our families and get the best outcome for them.  

It’s not hard to be fearless when working with our high-risk families—some of them carry terrible burdens and stress, so they deserve our research efforts for improved health outcomes. By signing up with us, these families trust our expertise, and we want to do all that we can to deliver for them.