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Dr. Sadie Dobrozsi is a board-certified pediatric oncologist, a nationally recognized leader in complex care delivery, and the medical director of genetic testing and oncology imaging at <a href="https://urldefense.com/v3/__https:/www.evolent.com/__;!!Py7XclA3!JohJJhTkW_ts-948OrFC_GcqgrM0dVacvdHr4JnWUwuN3jGwOoM2IA4SlSm-vmFuWkpZ0nChBkIpiwb4yYsfmw$">Evolent</a>, a leading specialty and primary care management company. Today, she talks to Urban Health Today about advances in genetic testing and screening and how they impact women’s health.
Urban Health Today: Dr. Dobrozsi, please tell us about your background and your work with Evolent.
Dr. Sadie Dobrozsi: My clinical background is in pediatric oncology, and at Evolent, I’m the medical director of our genetic testing program. The vast majority of genetic testing is focused on cancer patients, both genetic testing to see if an individual has a change in their personal genes that puts them at higher risk of developing certain cancers, and also genetic testing of cancer cells themselves. 
UHT: Can you give an overview of genetic testing in oncology? How is it currently used?
Dr. Dobrozsi: Genetic testing in cancer is broad and rapidly evolving, but there are basically two branches. 
The first branch involves testing or evaluating an individual patient for mutations that help determine if that patient is at increased risk of developing certain cancers. We call those cancer predisposition genes, or cancer predisposition syndromes, and these genes help control either how quickly a cell grows or how quickly it dies. 
The second branch involves testing the tumor itself. Cancer is basically a cell that has turned on and has lost the ability to stop growing. It&#8217;s growing uncontrollably, and that growth is regulated by genes within the cancer cell. So, whenever an individual develops a cancer, we can test their cancer cells and see what gene changes in their cancer cells are driving that cell to keep growing. 
This knowledge will often drive personalized treatment decisions, as we can select medication that will be most effective with that tumor and eliminate the use of medication that is not optimal.
In both paths, diagnosis of cancer predisposition syndrome can result in cascade testing for family members, which can, in turn, help us catch cancer early.
UHT: Can you describe the role of cancer risk assessment tools and where genetic testing comes into play?
Dr. Dobrozsi: Risk assessment tools are incredibly valuable to identify people at increased risk for developing cancer. These are standardized ways that enable providers to identify patients for whom increased testing may be appropriate. 
For example, if a patient was assessed with a 20% risk of breast cancer, then this might trigger a recommendation for genetic testing and more aggressive MRI screening.
If the resulting genetic testing then turns out negative, this doesn’t necessarily rule out an increased risk of cancer because there is still so much we don’t know about what drives cancer growth. To me, this would just indicate that to the best of our current scientific knowledge right now, results are negative, but we would still conduct increased screening.
UHT: With the pervasive gaslighting of women seeking medical care, how would genetic counseling even come up in conversation with a provider?
Dr. Dobrozsi: This is a difficult issue and demonstrates the importance of being an informed patient. In an ideal world, a conversation around genetic testing should be a part of every primary care evaluation. A provider should have a template baked into every wellness checkup, using AI to analyze the electronic medical record with family history and flagging those patients that meet criteria for risk. 
I’ve found OB/GYNs are often better versed in discussing breast cancer and ovarian cancer screening with their patients, but these are very specific screens, and there are many other cancers, so ultimately, it is the responsibility of the primary care provider.  
However, the field of genetic testing is rapidly evolving. Every six months there are different guidelines about who should get tested. Keeping up with the most recent guidelines requires a “champion,” or a clinician who agrees to own this area and keep his fellow clinicians updated as the guidelines are revised.
UHT: Can you explain universal hereditary cancer testing? Is it the next step in genetic testing for hereditary markers?
Dr. Dobrozsi: Universal hereditary cancer tests are “pan-cancer” panels which are broader and are designed to identify any cancer predisposition genes. They are much more comprehensive tests, and if a patient meets the criteria for a breast cancer or colon cancer panel, then that patient likely qualifies for the pan-cancer panel. While it makes sense to get the full panel, most patients are not doing so – it’s vastly under-utilized.
One reason may be that it can be challenging to interpret the results. A negative result doesn’t mean the patient isn’t going to develop cancer and can stop screening; it simply means the patient doesn’t have an increased risk. Another reason is that some patients simply do not want to know their risk. 
As we learn more, the criteria for patients who qualify for the universal hereditary cancer testing is constantly evolving and expanding, so it’s worthwhile for patients to keep asking their provider for the most recent guidelines.
UHT: Data presented at the American Society of Clinical Oncology suggests that hereditary cancer genetic testing is underutilized in cancer care. Do you agree with that data? If so, in your estimation, why is that the case?
Dr. Dobrozsi: Yes, I would agree with that, and there are several barriers that make this true. First, science is rapidly evolving, and the criteria for which patients should be screened change year to year. It is difficult to accurately identify patients at risk who would benefit from screening.
There is also a huge variability in clinical tests on the market, which makes it difficult for providers to know what to order and when. Today, there are over 175,000 genetic tests in the U.S., an overwhelming number for a medical practice to sort through. Even for BRCA screening, there are over 200 commercial tests, each with some variation. 
Finally, insurance coverage is variable and evolving, so this also plays a role. The average cost of BRCA testing, for example, is $1,800, so out-of-pocket costs can be prohibitive if a patient’s insurance is not contributing.
UHT: What policy changes or innovations do you believe are necessary to ensure genetic testing leads to better prevention and treatment strategies for patients and not just their children?
Dr. Dobrozsi: The more unified we can be as a scientific community across groups and different clinical stakeholders, the stronger voice we have to impact policy in terms of access. For example, the American College of Breast Surgeons, the American Society of Clinical Oncology, and the genetics community are all in agreement about breast cancer screening, although they have slight differences in opinion about who should be screened. The more we can unify and agree, the stronger our message is to policymakers that this is clear-cut medicine. When there&#8217;s really wishy-washy clinical guidance in the scientific community, it opens the door more on a policy side for there to be much more variable coverage because then the people making the decisions about coverage get to decide which scientific point of view they want to side with. 
We must also continue to work toward unifying policies that ensure coverage for mammograms, colonoscopies, and other testing that is part of standard, preventive health care. Genetic testing has the potential to be in that same category of preventive care for patients who qualify, and if patients decide not to do it, that’s okay, but the choice shouldn&#8217;t be made because they don&#8217;t have coverage for it.
UHT: Can you give an overview of the landscape of cancer diagnosis in increasingly younger patients? Have you seen an increase in pediatric cancer diagnoses among your patients?
Dr. Dobrozsi: Yes, we have seen that people in their 20s, 30s, and 40s are being diagnosed with cancers that we used to only see in people who are upwards of 50 years old. This increase is well-documented but very poorly understood at this point. One of the practical implications is that people in their 20s, 30s, and 40s are often having babies and raising their families, so the testing and diagnosis of the cancer predisposition syndrome in the parent is then cascading down to their children. These young parents are thinking about potential future children, how this risk could cascade to them, and how to mitigate the risk of their future children having a cancer predisposition syndrome.
UHT: How important is it to test children? What are the ethical considerations and potential benefits of identifying genetic risks early in life?
Dr. Dobrozsi: There is a strong belief that it is unethical to test a child for a genetic mutation if the cancer is not present until adulthood. A 5-year-old does not understand the complexity of the decision to know your cancer screening risk. We defer testing until the child is 18, so the child can have a voice in whether they want to be tested. The only exception is when a gene mutation from the parent can result in cancer developing earlier in life. In those cases, we consider screening pediatric patients. If children do test positive for the mutation, there is tremendous anxiety and emotional burden that goes along with this. It’s absolutely necessary to layer in support, such as a pediatric psychologist, in these cases.

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Dr. Sadie Dobrozsi Discusses the Future of Genetic Testing in Oncology and the Impact on Women’s Health

Women's Health

Dr. Sadie Dobrozsi talks to Urban Health Today about advances in genetic testing and screening and how they impact women’s health.

Dr. Dobrozsi Discusses the Future of Genetic Testing in Oncology and the Impact on Women’s Health