Why Pretesting Counseling Is Critical in the Age of Consumer Genetic Tests

July 06, 2018 by Suzanne M. Mahon DNS, RN, AOCN®, AGN-BC, FAAN

On March 6, 2018 (https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm599560.htm), 23andMe—an at-home genetic testing company—announced their direct-to-consumer genetic test (DTCGT) (https://voice.ons.org/stories/oncology-nurses-can-help-patients-understand-at-home-genetic-testing) would include DNA results for the three common founder BRCA mutations (https://www.ncbi.nlm.nih.gov/books/NBK1247/) commonly seen in people with Ashkenazi Jewish ancestry. This was big news because DNA results for the BRCA mutations had been previously available on the 23andMe panel report until the U.S. Food and Drug Administration removed them in 2013.

Reinstating reporting for BRCA mutations was considered significant because it opened the door for 23andMe to offer reports for other susceptibility mutations. Since then, the genetics community has shown great concern about the information associated with these reports, because individuals might mistakenly think that receiving negative results on this panel for the three BRCA mutations would mean they don’t have elevated risk for developing breast and other cancers.

As it stands, the BRCA1/2 genes currently have thousands of other mutations, and more than 30 other genes associated with hereditary breast cancer syndromes aren’t represented on the DTCGT panels. Healthcare providers need to be aware of these concerns.

DTCGTs Affect Patients in Unexpected Ways

Another side to the DTCGT story struck me after I met a new patient a few weeks back. She’s a 30-year-old mother of two who had been adopted as an infant. She had no information about her biologic family. She told me her adoptive parents were great, and they’d become wonderful grandparents. But she wanted to do a DTCGT primarily to understand her ancestry. Because her adoption was closed and she didn’t want to meet or be involved with her biologic family, she decided to move forward with a DTCGT test. Unfortunately, she wasn’t prepared for what she learned. She tested positive for one of the three founder BRCA mutations. Thinking it might be a mistake, she went to her primary care doctor and was referred to me for genetic counseling.

When individuals have a positive pathogenic result on DTCGT, their report states they should follow up with confirmatory testing and genetic counseling. In my patient’s case, confirmatory testing showed that her at-home result were accurate. So, that’s where our counseling process began. She’d initially tested thinking it would be interesting to know where her biologic relatives came from, but she was devastated to learn that she has an 80% lifetime risk for developing breast cancer, a possible 50% lifetime risk for developing ovarian cancer, and a possible increased risk for developing pancreatic cancer and melanoma. She’s worried about the risks to her two small children. Ultimately, she wasn’t ready to think about risk-reducing bilateral mastectomies or the fact her husband is terrified for her well-being. What started as an innocent inquiry spun out of control.

At our appointment, we discussed risk-reducing surgeries and screening. The unfortunate truth is that 30-year-olds are not supposed to be worried about significant cancer risks—she’s supposed to be taking care of her children, working part-time as a music teacher, and building her marriage with her husband. Now, she has some big decisions to make, and hers is even more complicated because she believes that the adoptive agency should be informed about her mutation in case she has other siblings who might be at risk.

I’ve been assisting her with this process, and she’s been forced to think about her biologic family more in the past few weeks than ever before. She said that prior to the test result, she’d reached a point where she felt grateful for her adoptive family, not focusing on her biologic parents. She has more questions about her biologic history, and those thoughts have been intrusive and concerning for her. Because of her test results, she could potentially face issues obtaining more life, disability, or long-term care insurance because of a known mutation in her genes.

The Importance of Pretest Counseling

During one of our appointments, she had one question I knew was coming: What would’ve happened if I’d sought counseling prior to testing?

I responded truthfully. I told her that if all she wanted was the ancestry testing, we could’ve selected an ancestry test that was right for her. I would’ve told her of the risks to her privacy and her data—that it might be sold by the company for profit to other groups. I would’ve mentioned that if she was concerned about cancer risks, she should consider some self-pay options for comprehensive cancer genetic testing for the same price as the DTCGTs on the market.

I also would’ve discussed the possible outcomes associated with testing, including indeterminate results if no pathogenic mutations were detected or if she was found to have a variant of unknown clinical significance. We could have discussed the ramifications of a positive test result, including the possibility of risk-reducing surgery. Our discussions could have provided information about the implications for her children, and the unique issues and challenges that adopted individuals face when a mutation is detected. I would have recommended that she obtain adequate insurance prior to testing, and I would’ve been there to support her and her husband when the results were disclosed.

The testing itself wasn’t the problem for my patient. The problem was the lack of preparation for the potential outcome. Unfortunately, none of that matters now. Whenever this happens I’m sad, because pretest counseling is about anticipatory guidance as much as it’s about understanding what the test is. Pretest counseling can provide enough information that balances the risks of testing again the benefits and limitations, so an individual can make the best decision for herself and her situation. Would her response to the results have been different if she had had pretest counseling? It’s likely she’d still be sad and worried, but she would have been prepared and felt supported. I like to think it would have made a difference.

Helping Patients Know the Potential Risks, Benefits, and Limitations

I’m reasonably confident that with time, counseling, and support, this lovely mother and wife will find peace. She understands that she has important knowledge she can use to potentially and significantly reduce her risk for developing cancer. Prior to the DTCGT results, she had no idea she was at substantial risk for developing breast and other cancers. Now, she’s been forced to think about it.

Thankfully, she has the loving support of her adoptive family and husband. I only wish we could’ve met before the test, because she represents one of the hidden risks associated with DTCGT. Oncology nurses and healthcare professionals can help educate patients, family members, and loved ones about the potential issues involved with DTCGT, as well as refer them to a qualified genetics professional.

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