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Color, NorthShore Pilot Project Results Reported at ACMG

SEATTLE (GenomeWeb) – At the American College of Medical Genetics and Genomics annual meeting here this week, representatives from Evanston, Illinois-based NorthShore University HealthSystem and the California-based consumer-centered genomics company Color presented early findings from a hereditary cancer testing pilot study that did not require a specific personal or family history.

Under this pilot — which enrolled more than 1,000 patients over 18 years old in less than two months at four internal medicine, obstetrics and gynecology, or family medicine primary care sites — individuals received Color hereditary cancer gene testing through their primary care physician with oversight by NorthShore's Center for Personalized Medicine.

NorthShore's Peter Hulick reported results for these participants in a poster at ACMG this week, and Alicia Zhou, Color's vice president of research and scientific affairs, provided additional details on ongoing work with NorthShore as well as other research being done by the company at an industry exhibit at the conference here today.

All told, the team picked up 89 pathogenic or likely pathogenic variants in 88, or 8.8 percent, of individuals with Color's next-generation sequencing panel, which focuses on 30 genes implicated in hereditary breast or ovarian cancer, uterine/endometrial cancer, colorectal cancer, melanoma, pancreatic cancer, stomach cancer, or prostate cancer.

Hulick noted that the proportion of pathogenic and likely pathogenic hereditary cancer gene variants found was in line with what has been reported in other unselected populations, but still provided important baseline information before implementing broader genetic testing in the health system.

Just over 300 individuals provided enough information to look at whether they would have met current National Comprehensive Cancer Network criteria for testing based on their family or personal histories, the researchers reported: Less than one-third of the 303 individuals did, including 81 of 280 individuals with a negative test result and 12 of 23 individuals with a pathogenic or likely pathogenic variant.

"Pathogenic variants were identified in patients who would have met criteria and would not have met criteria," Hulick and co-authors wrote, "reinforcing the concern that screening guidelines may fail to identify all patients who could benefit from genetic testing for well-established inherited cancers."

Conversely, while 10 of the participants had previously been diagnosed with breast cancer, ovarian/fallopian cancer, or melanoma, the researchers noted, none of the individuals with personal cancer histories had pathogenic variants picked up by the test.

The investigators noted that well over half of the participants — 682 of 1,005 individuals — were female, including 56 patients with pathogenic or likely pathogenic variants. Pathogenic variants turned up in between 7.7 percent and 10.8 percent of individuals in each age category, peaking in the youngest, 18 to 30 year old, participants.

Nearly 40 percent of patients who received a handout or secure pre-primary care appointment message about the program opted to participate.

"The data presented here, coupled with the demonstrated public interest in obtaining genetic information regarding health risks, suggest that health systems need to engage patients interested in proactively identifying risk through genetic testing screening, rather than have patients bypass their healthcare providers," the poster's authors concluded.

Zhou noted that Color considers such partnerships crucial for making genetic test results clinically informative and applicable for participants, as opposed to receiving test results in a vacuum without specific medical or screening recommendations.

"We came to the realization that, yes, we've brought in access to genetics, but at the end of the day, you're not actually helping anyone if people aren't doing what they should be doing with the results," Zhou said. "That's why partnering with the health systems is so important."

In January, NorthShore and Color announced that they are partnering on a DNA10K initiative — an effort to offer testing for cancer, cardiovascular disease, and specific drug responses to primary care patients — that expands on the Color-NorthShore hereditary cancer gene testing pilot project.

That program, which started earlier this week, is free of charge to NorthShore patients and will include Color's Extended product. That test provides information on 30 hereditary cancer-related genes, 30 genes implicated in cardiovascular disease, and pharmacogenomic information, Zhou explained, along with non-medical traits and ancestry information that is reported over a longer period of time. The DNA10K participants will also be assessed by low-coverage whole-genome sequencing.

In addition to providing clinically actionable genetic information to guide screening and other care in participants, the investigators plan to follow DNA1K and DNA10K participants to better understand their behaviors, health system use and outcomes. In particular, Hulick noted, the researchers hope to get a sense of what did or did not drive interest in genetic testing, participants' downstream interactions with the medical system, potential barriers to care, cascade test uptake by family members, whether testing leads to early detection and improved outcomes, and so on.

"It's definitely an exercise in real-world evidence and implementation science," Zhou told GenomeWeb, noting that "clinical care and patient management are a top priority for us."

"We really wanted to make sure that clinical care was one of the top priorities, so as a result all of the research has to happen in real time," she said.