[2023-10-03] Reducing barriers to genetic testing

Today, I read a social media post by the Ovarian Cancer Research Alliance (OCRA) that suggested that genetic counseling may be an unnecessary barrier to genetic testing. Based on a study funded by OCRA and Stand Up To Cancer and published a few weeks ago in JAMA Oncology (JAMA is the Journal of the American Medical Association),

Genetic counseling before and after genetic testing could be eliminated for some individuals without a negative impact, according to the Making Genetic Testing Accessible (MAGENTA) study.

The study looked at whether omitting genetic counseling before and/or after genetic testing increased distress in people being tested. It looked specifically at genetic testing conducted remotely using saliva kits delivered to participants' homes and genetic counseling provided over the phone. The study found that skipping genetic counseling
  • before genetic testing for all people being tested, and
  • after genetic testing for anyone found to not have a pathogenic variant
caused no more distress among individuals who had not received counseling than among those who had. One can infer from the summary of the study published in JAMA Oncology that post-test counseling is still recommended for people who are found to have a pathogenic (disease-causing) variant.

As I've shared before, I had genetic counseling both before and after the genetic testing that ultimately confirmed that I had inherited a pathogenic variant in my BRCA2 gene. Unlike the genetic testing in the MAGENTA study, my genetic testing was a thorough analysis of hundreds of potential variants on 17 different genes, using a blood sample I had provided in person to the Children's Hospital of Eastern Ontario (CHEO), which operates the Genetics Clinic for the region. I was referred to CHEO's Genetics Clinic by my gynecologic oncologist after a pathogenic mutation was found in the tumours removed during my surgery to deal with ovarian cancer. I found the genetics counseling both before and after testing to be valuable, particularly as it was already known that I had a gene mutation. My genetics counselor helped me understand the difference between:
  • a somatic variant (which is a genetic change that occurred in a person's lifetime and that is confined to specific tissue, such as a tumour) and
  • a germline variant (which is a genetic change that was inherited by a person and that is found in all cells in the body, including germ cells and therefore can be passed on to offspring).
My genetics counselor indicated that based on my family history and the presence of the BRCA2 mutation in my tumours, genetic testing was likely to confirm that I was carrying the pathogenic variant in all my cells. She noted that the Genetics Clinic would look for variants in 17 genes: some could be pathogenic (likely to cause disease); some could be benign (not likely to cause disease) and some could be of uncertain clinical significance (unknown, at this time, whether they cause disease). She also discussed the implications of an inherited pathogenic variant: additional cancer risks I could face, preventive steps I could take to lower my risks, and eligibility for my mom, siblings and children to be tested if I were found to have inherited a gene mutation. All of this prepared me mentally for a possible positive diagnosis in the future.

When the results of my genetic testing were in, the booking assistant at CHEO called me to set up an appointment with the genetics counselor, who had told me beforehand that the assistant would not know my results. So the first conversation about my results was with my genetics counselor who had set aside sufficient time to discuss the implications. Indeed, she spent as much time with me on the post-testing call as she had on the pre-testing call. All the hypotheticals we had discussed initially were now realities. She explained that I was now eligible for annual mammograms and MRIs as part of the high-risk arm of the Ontario Breast Cancer Screening Program, that I could be referred to The Ottawa Hospital's Breast Health Centre if I wanted to discuss a bilateral mastectomy to greatly lower my risk of breast cancer, and that my mom, siblings and children were immediately eligible for genetic testing.

For me, the steps I needed to take to access genetic testing seemed reasonable and did not feel like barriers.

That may have been less true for my first-degree relatives. After I provided them with a letter from CHEO about my gene mutation, my relatives needed to:
  1. Book and attend an appointment with their family doctors to request a referral, providing my letter so that the CHEO Genetics Unit would make the connection between my relatives and me when the referral for testing was submitted.
  2. Accept an invitation from CHEO for genetic counseling.
  3. Participate in a pre-test genetic counseling appointment.
  4. Provide a blood sample to CHEO directly or via a lab closer to where they lived.
  5. Participate in a post-test genetic counseling appointment at which they would receive their results.
At multiple steps in the process, a failure to communicate could (and, in some cases, did) occur. Referrals from doctor's offices could be delayed and in many cases did not result in a connection between my relative and me, which delayed the setting up of the pre-test genetic counseling appointment. The invitation for genetic counseling, which was made by phone, could be missed. It often took months before a pre-test genetic counseling appointment could be scheduled—longer still if a communications error had occurred earlier in the process.

This is in no way meant to be a criticism of the CHEO Genetics Clinic or the process it follows, which was no doubt put in place because it was found to be the most appropriate way to proceed and is likely part of a larger system that requires patients to meet with their family doctors and for those doctors to make referrals. In fact, the CHEO Genetics Clinic did streamline processes for my relatives by having multiple family members participate in a single pre-test genetic counseling appointment and by making post-test calls with family members who were found to not carry the same gene mutation as me as short and efficient as possible. And, in my case, every conversation I've had with the CHEO Genetics Clinic has been with helpful, knowledgeable and empathic genetics counselors.

However, as a layperson, I wonder whether the process for genetic testing (wherever that is done in Canada) could be streamlined for the first-degree relatives of people found to carry a pathogenic mutation. It would still be up to the patient to inform their relatives of their genetic testing results, but once done, could the relatives contact the genetics unit directly to indicate their interest in being checked for the same pathogenic mutation? Could they provide the name of their family doctor in lieu of going through the doctor for a referral? Could they choose to opt in or out of a pre-test genetic counseling appointment?

While the type of genetic testing looked at in the MAGENTA study is different from the kind of genetic testing I underwent, I do think there is merit in considering whether some steps in the genetic testing process might cause barriers. As an advocate for genetic testing, I would encourage organizations to reduce, as much as possible, any barriers that might make someone choose not to avail themselves of genetic testing.