Testing Differences by Race

Another difference the review identified was that the proportion of patients undergoing genetic testing varied by race.

There were 8 studies that reported race and included data on referral to genetic counseling. Among the 2310 evaluable patients, 43% of White patients were referred to genetic counseling, compared with 24% of Black patients and 23% of Asian patients.

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“If we want to make genetic testing accessible and equitable, then we have to understand what the barriers are,” Dr Frey said. “I really implore investigators to include race and ethnicity as biologic variables in any future studies, as I don’t think we can begin to tackle these disparities until we really understand them.”

Dr Frey also noted that most studies included in the review did not include race and ethnicity data, so the analysis was limited by sample size.

Of 6428 patients from studies that included information about race and completion of genetic testing, 40% of the White patients completed testing, compared with 26% of Black patients and 14% of Asian patients.

Some Improvements Over Time

“I think — not surprisingly — overall and rather grimly, we see that the rate of testing is low,” said Allison Kurian, MD, MSc, director of the Stanford Women’s Clinical Cancer Genetics Program in Stanford, California, who was not involved in the review but has conducted research on genetic testing in ovarian cancer.

“I think there were some encouraging findings; the fact that they looked over time, and they did see an improvement in rates of testing,” Dr Kurian added.

A combination of reduction in cost and more awareness of genetic testing has boosted overall uptake over time, but there are huge variations in uptake, with many patients still not being offered genetic testing by their providers.

“I think it matters what kind of data set you’d look at, whether you are looking at a clinic-based data set from a specialty center versus a population-based data set,” Dr Kurian said.

“In our follow-up paper to the one that they included in the review,2 we unfortunately did not see a substantial improvement at a population level. So I suspect there are improvements in expert centers but maybe not everywhere,” Dr Kurian said.

Interventions That May Help

The review authors made several suggestions as to how interventions might lead to a higher uptake of genetic testing among patients newly diagnosed with ovarian cancer, but there is unlikely to be a one-size-fits all approach.

The review showed that genetic counseling support increased the likelihood of patients completing genetic testing to 76%, and telemedicine increased the likelihood of completing genetic testing to 75%.

Another intervention called “mainstreaming” yielded the largest increase in patients undergoing genetic testing, with 99% of patients in the test cohort receiving genetic analysis for pathogenic variants.

As Dr Frey and colleagues explained in the review, mainstreaming allows non-genetics specialists to provide genetic testing and counseling to patients, reducing or eliminating the need to refer patients to specialists. Nurses and physicians are trained to provide genetics services, identify at-risk individuals, start genetics discussions, and order genetic testing.

Although mainstreaming appeared to be very successful, Dr Frey noted that it requires complex training and teamwork, so it may not be possible in all centers.

“Mainstreaming requires a significant amount of buy-in from your medical team and also from a genetics team that’s going to educate the medical team on how to perform genetic counseling and testing,” Dr Frey said. “So I also think that it is important to individualize this based on the resources at the specific practice.”

“Looking at the interventions they analyzed, mainstreaming certainly looks promising as well as embedded genetic counseling, as well as universal testing or opt-out,” Dr Kurian said. “Telemedicine is another strategy that has great potential too.

“Right now, all of these interventions look better than the 30% testing you get when you don’t do them. I think it is likely that combinations of these strategies will be most effective, and that will depend on what kind of facility and what kind of population we’re trying to serve.”

“I think that most oncologists believe in the power of genetics and believe that genetic testing at [the] time of a cancer diagnosis is critical,” Dr Frey said. “But I’m hoping that this study will cause us to realize that, despite a universal recommendation for genetic testing, we’re still far from that in reality, and we should critically evaluate our own successes and our own practices.”

Disclosures: This research was supported by grants from the National Institutes of Health, Patient-Centered Outcomes Research Institute, and Clinical and Translational Science Center at Weill Cornell Medical College. One study author declared affiliations with biotech, pharmaceutical, and/or device companies.


  1. Lin J, Sharaf RN, Saganty R, et al. Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis. Gynecol Oncol. Published online May 19, 2021. doi:10.1016/j.ygyno.2021.05.011
  2. Kurian AW, Ward KC, Abrahamse P, et al. Time trends in receipt of germline genetic testing and results for women diagnosed with breast cancer or ovarian cancer, 2012-2019. J Clin Oncol. 2021;39(15):1631-1640. doi:10.1200/JCO.20.02785