The video covers the concerning issue that genetic screening for breast and ovarian cancer is not adequately reaching those most in need, despite the significant genetic link to these cancers. Joe Gymski, director of genomics at Renown Health, discusses his involvement in a study highlighting that 80% of individuals with a pathogenic BRCA gene variant were unaware of their condition. The conversation also touches on the Healthy Nevada Project, which assesses the impact of genetic screening on populations, revealing that many don't meet current screening criteria, highlighting gaps in medical practice.

Secondly, the video addresses the responsibility of primary care physicians in recognizing the need for genetic screening and discusses the racial disparities in healthcare that affect screening accessibility, particularly impacting black women in the United States. Solutions like federally funded screenings in certain Nevada areas and the need to reevaluate screening practices and costs are explored, aiming for equitable healthcare delivery.

Main takeaways from the video:

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Key Vocabularies and Common Phrases:

1. genomics [jəˈnōmiks] - (noun) - The branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes. - Synonyms: (genetics, molecular biology, genetic science)

Joining us now to explain this research is Joe Gymski. He's the director of genomics at Renown Health, and he was deeply involved in this research.

2. pathogenic [ˌpæθəˈdʒɛnɪk] - (adjective) - Capable of causing disease. - Synonyms: (infectious, harmful, disease-causing)

But there's evidence that suggests that up to 80% of patients with a pathogenic or likely pathogenic variant of the BRCA gene are unaware of their condition.

3. oncology [ɒnˈkɒlədʒi] - (noun) - The study and treatment of tumors or cancer. - Synonyms: (cancer research, cancer medicine, tumor study)

There was a 2016 study in the Journal of oncology that looked at racial disparities in BRCA testing.

4. disparities [dɪˈspærɪtiz] - (noun) - A great difference or inequality. - Synonyms: (inequality, divergence, discrepancy)

There was a 2016 study in the Journal of oncology that looked at racial disparities in BRCA testing

5. hereditary [həˈredəˌterē] - (adjective) - Determined by genetic factors and therefore able to be passed on from parents to their offspring or descendants. - Synonyms: (genetic, inherited, familial)

And it really speaks to the importance of raising awareness for risks for hereditary breast and ovarian cancer.

6. inequitable [ɪnˈɛkwɪtəbl] - (adjective) - Unfair or unequal. - Synonyms: (unjust, unfair, unequal)

Care is inequitable across the United States, for sure.

7. socioeconomic [ˌsəʊsioʊˌiːkəˈnɒmɪk] - (adjective) - Related to or concerned with the interaction of social and economic factors. - Synonyms: (economic-social, social-economic, income-related)

So what can we do? Well, in our case in northern Nevada, we've partnered with federally qualified health centers which deliver care, you know, across socioeconomic divides

8. complexities [kəmˈplekstiz] - (noun) - The state or quality of being intricate or complicated. - Synonyms: (complications, intricacies, difficulties)

And it asks questions about the broader complexities of navigating the United States Health care system.

9. implementation [ˌɪmpləmɛnˈteɪʃən] - (noun) - The process of putting a decision or plan into effect. - Synonyms: (execution, application, enactment)

Is there another research study or are you moving into implementation?

10. populations [ˌpɒpjəˈleɪʃənz] - (noun) - All the inhabitants of a particular town, area, or country. - Synonyms: (society, people, community)

As you talk about this figure and you talk about folks who are not meeting the screening criteria and also the awareness of screening, it strikes me that we might be talking to two populations here

New Study Shows Many People Don't Know They Carry Genes For Breast Cancer

According to the American Cancer Society, one in eight women in the United States will develop breast cancer. One in 36 will die from the disease. Other research shows that up to 10% of breast and ovarian cancer cases are caused by genetics. And yet new research shows that genetic screening is not reaching the patients need it the most. Joining us now to explain this research is Joe Gymski. He's the director of genomics at Renown Health, and he was deeply involved in this research.

Joe, thanks so much for being here. Start at the beginning. What made you want to do this research? Was it a patient experience you had? Was it a story that you heard? Or was it prior research that led to this article now coming out in Jamaica? Sure. So, like many people, I had to deal with cancer in my family and was actually a researcher in biophysics.

And after my father passed away when I was age 27, I felt like my research should have more of a human health focus and was fortunate enough to start this project in Northern Nevada called the Healthy Nevada Project, whose aim is to assess the impact of genetic screening on individuals in our population. And that's what led to a series of studies on links to breast cancer.

So this new study that came out, there was a figure in it I was reading, just the parts that I could understand as someone without a medical license. But there's evidence that suggests that up to 80% of patients with a pathogenic or likely pathogenic variant of the BRCA gene are unaware of their condition.

Can you talk about in layman's terms, what does this mean? And also in layman's terms, broadly, what did you find in this research? Sure. So if we take a step back in 2018, when we launched the Healthy Nevada Project, genetic screening of the general population was not common. There are a few studies happening around the United States, then there are many more now.

And the reason for that is we found that when we screened the general population, so all comers, as we call it in research. Anybody, welcome to join. Who's an adult. We found that approximately 8 out of 10 individuals who had one of these pathogenic or likely pathogenic variants not only didn't know it, but they didn't meet the screening criteria in common medical practice to raise a red flag to say we should screen this individual.

And that is, that was at the time surprising. It still is. It is a finding that has been validated by other health systems around the country. And it really speaks to the importance of raising awareness for risks for hereditary breast and ovarian cancer, many of which, of course, travel through families and stories, right? Grandma had breast cancer, my father had colon cancer.

But when eight of out of 10 individuals do not know those risks or their doctors do not see them as high risk individuals, and we're finding them with 30 year disease acceleration for the underlying disease, it's really important to change the narrative on the importance of screening and the importance of genetics in the general population.

As you talk about this figure and you talk about folks who are not meeting the screening criteria and also the awareness of screening, it strikes me that we might be talking to two populations here. There's the individual population telling people to go to their doctor and get screened. But also, if people are not meeting the screening criteria that their doctor is providing them, how much of this is on the GP population of the world? The primary care physicians who are talking to their patients, are they unaware of the screening criteria? And is that why patients are unaware that they should perhaps be getting this genetic screening?

Yeah, that's a great question, Maggie. So the primary care doctors are becoming more versed in the power of screening. And I think within the next few years, we're going to see genetic screening for these relatively prevalent pathogenic variants that cause disease. We're gonna see it become much more common in the primary care practice.

Throughout our journey working with the health system, we've had to consistently spend a lot of time working with primary care doctors, basically about not being afraid of using genetics for screening tools, much like they wouldn't be afraid to use a cholesterol panel or check someone's blood sugar. And that just requires changing the narrative on the complexity of screening, using clinicians who are more versed to help guide primary care docs to feel more comfortable about it, and also just to increase knowledge more broadly, much like, you know, I hope we're doing today.

There was a 2016 study in the Journal of oncology that looked at racial disparities in BRCA testing. And this is important because we know that black women have a 41% higher death rate from breast cancer than their white counterparts.

But this 2016 study asked some of the participants about costs in some of these screenings. So did your research look at the cost of some of this genetic testing and how patients feel about them? Because I think if someone thinks that an extra test is going to cost them a lot of money, they might not take it. And I can kind of understand why, of course.

And it asks questions about the broader complexities of navigating the United States Health care system disparity is a real thing in the delivery of care. Care is inequitable across the United States, for sure. And we've also shown that in this recent JAMA Network paper on familial screening, where even just the assessment of family risk is not equally distributed across racial and ethnic groups. And that's, you know, obviously problematic.

So what can we do? Well, in our case in northern Nevada, we've partnered with federally qualified health centers which deliver care, you know, across socioeconomic divides. And we offer our genetic screening at no cost. And that is not, unfortunately, practical across the entire United States. Right. Who's going to pay for it in this case? It's a research study. There are both research and clinical goals. You know, we're really lucky to have a health system that supports us and feels like this is the right thing to do.

In the future, we are going to need to assess whether or not current screening. Right. Mammography, starting at age 40, ending at 74 every other year, is the most effective and most cost effective tool and also the most equitable tool versus something like offering screening for these BRCA genes.

And then we are going to have to, you know, reeducate the population on how these costs are going to be covered and whether or not, you know, they should participate. Given, of course, there are also, you know, ethical and personal concerns about the use of genetic testing.

You said something interesting just about the family history. So I'm wondering, are doctors of America not taking a complete family history? And does this go back to the training? Do America's medical schools and residencies need to change what they're teaching our young doctors about, what they're asking patients in all populations? Yeah.

So in our study, we both use a seven question questionnaire. Seven questions. Seems like anybody should be able to fill it out. Right. It's not exhausting. They're very easy. Right. Did anybody in your family have breast cancer? You know, is one of the questions versus a really detailed family history, which we found, gets buried, you know, deep in the notes.

And so, you know, if I look at my notebook from meetings, I typically focus on the first page and I never really go to the last page. And the notes of many patients, deep in their notes, are family history. And it's not surfaced and available for the primary care doc to again say, ding, ding, ding. There's a problem here. And so we looked at the power of just seven questions. It's called the FHS7 questionnaire. I can provide a link to it really easy.

And what we found was that those questions actually predict really well whether or not a woman is going to have a BRCA mutation. But we also found that those questions, when answered positively, increase the risk of breast cancer. Not surprisingly, it often runs in families and is not readily available to the primary care doctor.

To say, this is something you should think about, perhaps offer this individual genetic screening and it starts with individuals who are. Screening rates are higher for individuals that are socioeconomically well off. Screening rates are lower for racial and ethnic minorities. And we need to, you know, frankly, improve that.

I think one of the, the points of this study is to not be afraid of implementing a very simple questionnaire because if you can do it consistently with everybody, you're going to increase outcomes for things like breast cancer survival rates. And that's obviously a huge goal across the United States.

Now, of course, this seven question survey sounds like something that providers can give, but do you have any recommendations for patients themselves? And perhaps they are in a healthcare desert, perhaps they are in a disadvantaged community where they struggle to get treatment. Is there a question they should ask themselves and then take to their doctor the next time they happen to see one?

Absolutely. Like I said, I would like to provide the link to the questions. Certainly it's really difficult to impose on individuals. What is the best thing to tell your doctor about your entire family history and your own concerns as an individual? You know, I, like I said at the beginning, I, you know, had to deal with a father who was very young and had cancer.

And so, you know, I'm hyper aware. Folks who are living out in the rural communities of Nevada are perhaps less aware. And so, you know, a simple message is if you think you have a family history, risk of disease, family history is still the, unfortunately the best tool we have for assessing risk. And I would ask people to, you know, indicate that to their doctor.

Again, I want to, you know, I think we need to answer that question cautiously to, you know, put so much on individuals plates about, you know, what they should be doing. But yes, the, you know, the phrase you have to be your own best advocate still unfortunately holds true. Family history is the best assessment.

Joe, what's next for you? Is there another research study or are you moving into implementation? If we were to speak a year from now, what would you hope to tell Forbes about what you have accomplished as a result of this research?

That's a great question. So yes, we will continue research into, you know, what are the best tools to assess risk across the population for cancers, for heart disease, et cetera? That's a real goal of the Healthy Nevada project. But of course, you know, it becomes imperative to actually convert this into action.

And so, again, you know, I'm lucky enough to work with a health system in northern Nevada that is extremely progressive. For example, we're building a new BRASS Risk center, thanks to generous donors in the community, the Conrads. And one of the reasons that's being built is because Nevada really is at the bottom of outcomes for women as it relates to breast and ovarian cancer.

So putting these tools like the FHS7 questionnaire that will soon be sent to every person in our health cent system rather than just asked by the doctor, is something we're going to do. And then what we can do scientifically is we can say, okay, did this method work better than that method?

Report on it in the literature, and then hope that our colleagues across the United States adopt our best practices based on the evidence. The evidence is really what should drive the decision making in healthcare.

Evidence should drive decision making in health care. That is worth underscoring. Joe Gymski, thank you so much for joining us to talk about this very important research. We so appreciate your time and your work.

Global, Healthcare, Technology, Genetic Screening, Breast Cancer, Racial Disparities, Forbes