To better understand the links between ovarian cancer testing, prevention and treatment, The American Journal of Managed Care® (AJMC®) spoke with Jessica Greenwood, MS, who was recently appointed Senior Director of Clinical Implementation and Innovation for Aspira Women’s Health. Greenwood discussed Aspira’s OVA1 test, which uses an algorithm to assess masses before surgery, and Genetix, which detects a woman’s risk of hereditary breast and ovarian cancer through genetic testing.
AJMC®: Can you briefly describe the society’s test for ovarian cancer and the hereditary cancer test?
Greenwood: OVA1 is our test for ovarian cancer. This is an FDA approved blood test for women with adnexal mass that uses 5 biomarkers and a proprietary algorithm to assess the risk of malignancy of this mass. The test results can help providers determine which provider should perform the surgery, which [gynecological] an oncologist or an OB / GYN, and that really leads to the most effective treatment plan for patients. Add to that the Aspira Genetics hereditary cancer tests. This is a multigene panel test specially designed to include genes with a known or suspected associated risk of breast and gynecological cancers. These gynecological cancers include not only ovarian cancer, but also cancer of the endometrium or the cervix. So this panel includes genes like BRCA1/2, as well as all the Lynch syndrome genes, but also some lesser known genes such as ATM or BRK1 or P10.
AJMC®: In 2013, we experienced what some called the Angelina Jolie effect, described as a landmark event in raising awareness BRCA tests after Jolie revealed she had her breasts removed to reduce her chances of developing breast cancer. (Later, Jolie also had her ovaries removed.) How would you describe the current level of consciousness BRCA tests, as well as knowledge about preventive surgery? What is the level of knowledge of the risk of ovarian cancer compared to the risk of breast cancer?
Greenwood: Angelina Jolie’s willingness to share her personal experience has certainly brought hereditary cancer screening as a whole to the mainstream media. And it dramatically increased patient awareness, and then led patients to ask their providers about BRCA tests – and to increase the importance of these tests across the spectrum of gynecological care.
However, what the movement did not do was draw attention to all cancers associated with BRCA1/2 cancers, including high grade ovarian and endometrial, pancreatic and prostate cancer, which is quite interesting because although the focus was largely on breast cancer, Angelina Jolie’s mother actually died of ovarian cancer, which is really what [prompted her] get tested.
While the emphasis on BRCA1/2 is appropriate, as they make up the majority of pathogenic variants associated with inherited breast and ovarian cancer syndromes, there are several other genes that also confer extremely high risks of gynecological cancers. So test only for BRCA1/2 will miss these other genes and could falsely reassure women that they are not at increased risk for breast or ovarian cancer. We really feel that awareness shouldn’t just be BRCA, but also on other high penetrance genes that can confer these high risks.
AJMC®: Advocacy groups have tried to educate patients and providers about the need to test men as well as women, BRCA and other related mutations, as fathers are also able to pass these mutations on to their daughters. Has the reimbursement landscape met this need?
Greenwood: This is such an important point. And I would add that not only do men have the ability to pass any of these themes on to their children, but if they are carriers themselves, they can also be at risk of developing cancer. It is really an important point of consciousness on both sides. Many inherited cancer syndromes confer an increased risk for things like high grade prostate cancer, breast cancer in men, pancreatic cancers, and others that directly affect men. I have reviewed some of the most recent policies of the major payers, and it is clear that there is coverage for men who have a known family history of hereditary cancer syndrome, a personal history of cancer. associated or extensive family history of cancer. However, the coverage is different and much more well defined for BRCA1/2 only, compared to panel tests. But if a patient has cancer himself or has a long history of cancer, most policies would likely cover these tests as well. So I think the bigger issue is maybe less about the coverage here, but more about the men actually showing up for this test and recognizing the relevance to both their own health and health. of their family.
AJMC®: About 18 months ago, we published a special issue on reimbursement issues in genetic testing and hereditary cancers. And soon after, the National Comprehensive Cancer Network (NCCN) updated its recommendations for screening people of Ashkenazi Jewish descent. Have you seen the testing and reimbursement landscape change since the end of 2019 update for this population?
Greenwood: Around the world, it seems the big payers are at least covering BRCA1/2 test for women and sometimes men of Ashkenazi Jewish ancestry. It is therefore important to understand how this term of Ashkenazi Jewish ancestry is defined. He is defined as having at least 1 grandparent who is of Ashkenazi Jewish descent. The challenge here is to only cover BRCAThe 1/2 tests, not the multigenic panel tests for these women, assume that they are only at risk for the 3 founder mutations that are found in the Ashkenazi Jewish population. Given that women who qualify as Ashkenazi Jews may have up to 75% of their ethnic makeup represented by a different ancestry, this is truly an inaccurate and potentially dangerous assumption, however. Panel tests are more clinically and more relevant, and frankly, more cost-effective as a way to assess the risk of inherited cancer. But panel tests are not routinely covered for Ashkenazi Jewish women, solely on the basis of these criteria.
AJMC®: Are some payers better than others on test coverage? And is there a gap between commercial and public payers? And is Medicaid better in some states than others?
Greenwood: As you can imagine, this is kind of a loaded question, but the short answer is yes. Under the Affordable Care Act, BRCA screening of women with particular personal or family backgrounds should be covered without co-payment. However, men and women treated for cancer are not included in this provision. So it is useful but not sufficient. And obviously the provision, even though it doesn’t cover multigene panel testing, and of course, you know, all ACA provisions are subject to what happens with this program going forward. For Medicaid, all but 3 state Medicaid programs cover BRCA1/2 test for qualified people. And the criteria essentially follow the guidelines of the NCCN, as is the case with most commercial payers. Unfortunately, again, most state Medicaid programs do not cover panel testing or testing for any gene outside of BRCA1/2 or the Lynch syndrome genes. And that really leaves a huge void in care for people with this particular coverage, as tests are going to argue that they are going to miss variants that confirm a significant associated cancer risk like STK11, which dramatically increases the risk of breast cancer. ovarian neck and potentially the endometrium. will not be included or covered by these Medicaid plans. The bottom line is that the coverage is universal enough to BRCA1/2, test only at least for women. But it varies greatly from there.
AJMC®: Should population-based screening be done in women based on clinical factors beyond family history or ethnicity, such as obesity?
Greenwood: I’m not sure we’re at the stage of population-based screening for hereditary cancer screening for a group or a subgroup. We certainly know that other medical factors such as obesity increase the risk of certain cancers, but the data is simply not there to suggest that these medical factors are also associated with a history of hereditary cancer syndrome, and are therefore an indicator of a population. So that’s where you start to see multimodal risk assessment techniques like polygenic risk scores come into play. These are risk assessments based on a variety of factors, including other genetic components, factors related to lifestyle, age and family history. Instead of thinking about population-based screening, based on a particular factor like obesity, it may be more clinically effective to think about the combination of all these factors and how that influences risk.
AJMC®: Is there anything we haven’t covered that you would like to add?
Greenwood: Another challenge is the lack of coverage for diagnostic tests to confirm genetic test results directly to the consumer. Anyone who receives a positive result, indicating the presence of a pathogenic variant by a DTP test, is recommended to undergo a confirmatory test by a diagnostic laboratory. And given some of the recent data that has been published demonstrating the high rates of false positive results for some of the DTP labs, as well as the limitation of DTP tests in general, such as not covering all variants of a particular gene, this test diagnostic process is very important to ensure that patients are not making clinical decisions based on findings that have not been verified by standard care measures.
AJMC®: Would most payers cover surgery on a direct-to-consumer test basis?
Greenwood: Not necessarily, but they would cover it if it was medically necessary. It would therefore be up to the provider to determine if they would be willing to call for something medically necessary based on that particular outcome.