RESEARCH OPPORTUNITY! Do you want to participate in a new Canadian study looking at digital delivery of cascade genetic testing? 

Written By BRCAinBC

Facilitating Cascade Genetic Testing Study 

https://www.womensacademics.ca/active-studies/cascade-genetic-testing-study/ 

 

This Canada-wide study is developing and piloting a patient-centered digital tool for cascade testing for BRCA1 and BRCA2. This new resource is designed to help carriers and their families and will hopefully increase the identification of relatives that have a very high risk of developing cancer.  Once identified, these relatives can access genetic testing to see if they carry the gene mutation that is present in their family.   

 

Patients that use digital tools have shown that they have better knowledge of the subject which helps tremendously with decision making.  Being more informed allows patients to be an active part of their care.   

 

Currently only 30% of first degree relatives of BRCA carriers get genetic testing.  With this study, the digital tool will aim to increase this number by making individuals and their family members more knowledgeable.  This will aid relatives in deciding about getting genetic testing and then if they are carriers deciding about next steps.   

 

How do I get involved?  

If you are interested, please review the information at the above link and contact the study team by emailing cascadestudy@wchospital.ca or calling 416-323-6400 x2749.  

The study is looking for participants who meet the following criteria: 

  • Adults over 18 years old  

  • The first in the family to have a BRCA 1 and or BRCA 2 gene mutation*  

  • Have connected with genetic services in the last 5 years.   

*Additionally, relatives of BRCA carriers over 18 years can also participate.  

 

All aspects of the study can be completed from home. You will complete a consent form, which includes your contact information and then there is a short online survey to gain an understanding of your experiences with genetic services. Finally, you will participate in a virtual interview to explore your needs and preferences for a digital tool that may help with the uptake of cascade testing.  Any additional questions can be addressed by the study coordinators at the above contact details.   

 

Backgrounder on Cascade Genetic Testing in British Columbia 

What is cascade genetic testing? 

Cascade testing identifies those family members that could benefit from gene mutation analysis.  These are relatives of individuals that are known carriers of BRCA gene mutations.   Once family members are identified mutation analysis is offered for the gene mutation that is known to that family.  (Srinivasan et al., 2020) 

 

Why do we need it? 

Cascade genetic testing helps us more easily locate BRCA carriers in the general population, which can lead to more cancers being prevented down the line. Learning that one of your relatives is a BRCA carrier is often concerning. But it may also make you want to explore your own genetic testing options. British Columbians who learn they have mutation in the family (a blood relative) through cascade testing are generally eligible for testing through BC’s Hereditary Cancer Program. Depending on their results, they will be provided with cancer risk-reducing options for themselves. 

 

Do I have to have cancer in my family to be involved in cascade genetic testing?   

In short, no!  Cascade testing is for family members of anyone that carries an identified gene mutation, including BRCA1 and BRCA2 carriers. The individual with the identified mutation may not have cancer, but may have found out through population testing programs, or even through private testing. An example of a population testing program is the Get BRCA Wise program (www.getbrcawise), which tests people with Jewish ancestry who are known to be at increased risk of being BRCA+. 

 

Why would I want to participate in cascade testing? 

Of course, genetic testing is always a very personal choice. But if a family member tests positive, your risk of carrying a mutation yourself increases considerably (up to 50%, depending on who the family member is).  

If you test positive for a BRCA mutation, you will be considered at increased risk of several cancers, including breast (up to 87% for bio females), ovarian (60%), pancreatic, prostate (up to 40% for bio males) and male breast cancer.  

Cancer is a scary thought but knowing that you are a carrier of a BRCA mutation offers you many options to reduce your risk of cancer and opens doors to more targeted and effective cancer treatments and therapies. 

 

How does it work in general? 

There are a few different ways that cascade testing can be done. They depend on the preferences of the person who has been identified to carry the gene mutation.  Of course, when an individual is identified to carry a BRCA1 or BRCA2 gene mutation, this is considered valuable information for their relatives. However, that person still ultimately owns their health information and is under no legal obligation to inform their family about the finding. A recent Canadian study exploring family communication preferences of carriers aimed to capture the current preferences/ challenges carriers face with discussing mutations with their relatives. It was found that those with personal history of cancer and a BRCA gene mutation, prefer to be involved with the communication of that news to their relatives.  If an individual is a BRCA gene mutation carrier and does not have a personal history of cancer, they prefer to have healthcare professionals assist them in sharing this information with relatives.   

 

How does it work in British Columbia? 

Cascade testing is conducted by the BC Cancer Hereditary Cancer Program (HCP). Those who test positive can access support from genetic counsellors to assist with sharing the news with their families, through appointments either in person or virtual (Hereditary Cancer Program, 2024). 

Alternatively, the genetic counsellor can also provide this person with a letter which explains the circumstances and the various options for moving forward. Finally, they can also offer an anonymous letter option for those who would like to inform their family members without being identified as a mutation carrier.  

Family members would then be eligible for genetic counselling and carrier testing. The testing done only looks for the gene mutation that was previously identified in their family, unless broader testing is advised. 

 

If you carry a BRCA1 or BRCA2 gene mutation and you want help sharing this information with your relatives, contact the BC Cancer Hereditary Cancer Program (604-877-6000 x672198 or HereditaryCancer@bccancer.bc.ca) 

 

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BRCAinBC
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