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

Forbes

Genetic factors play a role in as much as 10% of all cases of breast and ovarian cancer. And yet, according to a new study published in the Journal of the American Medical Association, there is a significant number of patients who are not aware that they carry genetic risk factors for these diseases. Joseph Grzymski, the Chief Genomics Officer for Renown Health--which helped spearhead the study--spoke to ForbesWomen editor Maggie McGrath about these research findings and what they mean for doctors and patients across the U.S.  0:00 Statistics On Breast Cancer 0:40 What Genetic Screening Found In The US Population 4:01 Recommendations For Individuals And Institutors 5:58 Is Cost A Barrier To Breast Cancer Screenings 8:43 How JAMA Is Helping 13:03 What's Next?  Subscribe to FORBES: https://www.youtube.com/user/Forbes?sub_confirmation=1  Fuel your success with Forbes. Gain unlimited access to premium journalism, including breaking news, groundbreaking in-depth reported stories, daily digests and more. Plus, members get a front-row seat at members-only events with leading thinkers and doers, access to premium video that can help you get ahead, an ad-light experience, early access to select products including NFT drops and more:  https://account.forbes.com/membership/?utm_source=youtube&utm_medium=display&utm_campaign=growth_non-sub_paid_subscribe_ytdescript  Stay Connected Forbes newsletters: https://newsletters.editorial.forbes.com Forbes on Facebook: http://fb.com/forbes Forbes Video on Twitter: http://www.twitter.com/forbes Forbes Video on Instagram: http://instagram.com/forbes More From Forbes:  http://forbes.com  Forbes covers the intersection of entrepreneurship, wealth, technology, business and lifestyle with a focus on people and success.

Transcript

00:00Hi everyone, I'm Maggie McGrath, editor of Forbes Women.

00:06According to the American Cancer Society, one in eight women in the United States will

00:10develop breast cancer.

00:12One in 36 will die from the disease.

00:15Other research shows that up to 10% of breast and ovarian cancer cases are caused by genetics,

00:23and yet new research shows that genetic screening is not reaching the patients who need it the

00:29most.

00:30Joining us now to explain this research is Joe Jimski.

00:34He's the director of genomics at Renown Health, and he was deeply involved in this research.

00:39Joe, thanks so much for being here.

00:41Start at the beginning.

00:42What made you want to do this research?

00:45Was it a patient experience you had?

00:48Was it a story that you heard?

00:50Or was it prior research that led to this article now coming out in JAMA?

00:55Sure.

00:56So like many people, I had to deal with cancer in my family and was actually a researcher

01:09in biophysics.

01:11And after my father passed away when I was age 27, I felt like my research should have

01:21more of a human health focus and was fortunate enough to start this project in northern Nevada

01:28called the Healthy Nevada Project, whose aim is to assess the impact of genetic screening

01:36on individuals in our population.

01:39And that's what led to a series of studies on links to breast cancer.

01:49So this new study that came out, there was a figure in it.

01:52I was reading just the parts that I could understand as someone without a medical license,

01:57but there's evidence that suggests that up to 80% of patients with a pathogenic or likely

02:03pathogenic variant of the BRCA gene are unaware of their condition.

02:10Can you talk about, in layman's terms, what does this mean?

02:14And also in layman's terms, broadly, what did you find in this research?

02:17Sure.

02:19So if we take a step back, in 2018, when we launched the Healthy Nevada Project, genetic

02:24screening of the general population was not common.

02:28There are a few studies happening around the United States, then there are many more now.

02:32And the reason for that is we found that when we screened the general population, so all

02:40comers, as we call it in research, anybody welcome to join who's an adult, we found that

02:45approximately 8 out of 10 individuals who had one of these pathogenic or likely pathogenic

02:52variants, not only didn't know it, but they didn't meet the screening criteria in common

02:59medical practice to raise a red flag to say, we should screen this individual.

03:05And that was, at the time, surprising.

03:10It still is.

03:11It is a finding that has been validated by other health systems around the country.

03:18And it really speaks to the importance of raising awareness for risks for hereditary

03:23breast and ovarian cancer, many of which, of course, travel through families and stories,

03:30right?

03:31Grandma had breast cancer.

03:32My father had colon cancer.

03:35But when 8 out of 10 individuals do not know those risks, or their doctors do not see them

03:42as high-risk individuals, and we're finding them with 30-year disease acceleration for

03:49the underlying disease, it's really important to change the narrative on the importance

03:55of screening and the importance of genetics in the general population.

04:02As you talk about this figure and you talk about folks who are not meeting the screening

04:07criteria and also the awareness of screening, it strikes me that we might be talking to

04:13two populations here.

04:15There's the individual population telling people to go to their doctor and get screened.

04:19But also, if people are not meeting the screening criteria that their doctor is providing them,

04:24how much of this is on the GP population of the world?

04:28The primary care physicians who are talking to their patients, are they unaware of the

04:32screening criteria?

04:33And is that why patients are unaware that they should perhaps be getting this genetic

04:37screening?

04:38Yeah, that's a great question, Maggie.

04:41So the primary care doctors are becoming more versed in the power of screening.

04:51And I think within the next few years, we're going to see genetic screening for these relatively

04:58prevalent pathogenic variants that cause disease.

05:03We're going to see it become much more common in the primary care practice.

05:10Throughout our journey working with the health system, we've had to consistently spend a

05:18lot of time working with primary care doctors, basically about not being afraid of using

05:25genetics for screening tools, much like they wouldn't be afraid to use a cholesterol panel

05:31or check someone's blood sugar.

05:34And that just requires changing the narrative on the complexity of screening, using clinicians

05:44who are more versed to help guide primary care docs to feel more comfortable about it,

05:50and also just to increase knowledge more broadly, much like I hope we're doing today.

05:58There was a 2016 study in the Journal of Oncology that looked at racial disparities in BRCA

06:04testing.

06:05And this is important because we know that Black women have a 41% higher death rate from

06:11breast cancer than their white counterparts.

06:13But this 2016 study asked some of the participants about costs in some of these screenings.

06:20So did your research look at the cost of some of this genetic testing and how patients

06:24feel about them?

06:25Because I think if someone thinks that an extra test is going to cost them a lot of

06:29money, they might not take it.

06:31And I kind of understand why.

06:34Of course, and it asks questions about the broader complexities of navigating the United

06:42States health care system.

06:46Equality is a real thing in the delivery of care.

06:51Care is inequitable across the United States, for sure.

06:55And we've also shown that in this recent JAMA Network paper on familial screening, where

07:03even just the assessment of family risk is not equally distributed across racial and

07:12ethnic groups.

07:13And that's obviously problematic.

07:16So what can we do?

07:18Well, in our case in northern Nevada, we've partnered with federally qualified health

07:24centers which deliver care across socioeconomic divides.

07:33And we offer our genetic screening at no cost.

07:38And that is not, unfortunately, practical across the entire United States.

07:44Who's going to pay for it?

07:45In this case, it's a research study.

07:47There are both research and clinical goals.

07:50We're really lucky to have a health system that supports us and feels like this is the

07:56right thing to do.

07:59In the future, we are going to need to assess whether or not current screening, mammography

08:07starting at age 40, ending at 74 every other year, is the most effective and most cost-effective

08:14tool, and also the most equitable tool, versus something like offering screening for these

08:20BRCA genes.

08:22And then we are going to have to re-educate the population on how these costs are going

08:31to be covered and whether or not they should participate, given, of course, there are also

08:38ethical and personal concerns about the use of genetic testing.

08:43You said something interesting just about the family history.

08:46So I'm wondering, are doctors of America not taking a complete family history?

08:51And does this go back to the training?

08:52Do America's medical schools and residencies need to change what they're teaching our young

08:59doctors about what they're asking patients in all populations?

09:03Yeah.

09:05So in our study, we both use a seven-question questionnaire.

09:13Seven questions seems like anybody should be able to fill it out, right?

09:17It's not exhausting.

09:18They're very easy, right?

09:19Did anybody in your family have breast cancer, you know, is one of the questions.

09:25There's a really detailed family history, which we found gets buried, you know, deep

09:30in the notes.

09:32And so, you know, if I look at my notebook from meetings, I typically focus on the first

09:37page and I never really go to the last page.

09:41And the notes of many patients deep in their notes are family history, and it's not surfaced

09:47and available for the primary care doc to, again, say, ding, ding, ding, there's a problem

09:53here.

09:54So we looked at the power of just seven questions.

09:57It's called the FHS-7 questionnaire.

10:00I can provide a link to it.

10:01Really easy.

10:03And what we found was that those questions actually predict really well whether or not

10:11a woman is going to have a BRCA mutation.

10:14But we also found that those questions, when answered positively, increase the risk of

10:20breast cancer.

10:21Not surprisingly.

10:22It often runs in families.

10:25And is not readily available to the primary care doctor to say, this is something you

10:31should think about, perhaps offer this individual genetic screening.

10:38And it starts with individuals who are, screening rates are higher for individuals that are

10:47socioeconomically well off.

10:49Screening rates are lower for racial and ethnic minorities.

10:56And we need to, frankly, improve that.

10:58I think one of the points of this study is to not be afraid of implementing a very simple

11:05questionnaire because if you can do it consistently with everybody, you're going to increase outcomes

11:13for things like breast cancer survival rates.

11:15And that's obviously a huge goal across the United States.

11:18Now, of course, this seven-question survey sounds like something that providers can give.

11:23But do you have any recommendations for patients themselves?

11:27And perhaps they are in a healthcare desert.

11:29Perhaps they are in a disadvantaged community where they struggle to get treatment.

11:34Is there a question they should ask themselves and then take to their doctor the next time

11:37they happen to see one?

11:40Absolutely.

11:42Like I said, I would like to provide the link to the questions.

11:46Certainly, it's really difficult to impose on individuals what is the best thing to tell

11:55your doctor about your entire family history and your own concerns as an individual.

12:06Like I said at the beginning, I had to deal with a father who was very young and had cancer.

12:12And so, you know, I'm hyper aware.

12:15Folks who are living out in the rural communities of Nevada are perhaps less aware.

12:20And so, you know, a simple message is if you think you have a family history risk of disease,

12:27family history is still unfortunately the best tool we have for assessing risk.

12:35And I would ask people to, you know, indicate that to their doctor.

12:41Again, I want to, you know, I think we need to answer that question cautiously to, you

12:47know, put so much on individuals' plates about, you know, what they should be doing.

12:52But yes, the, you know, the phrase you have to be your own best advocate still unfortunately

13:00holds true.

13:02Family history is the best assessment.

13:03Joe, what's next for you?

13:05Is there another research study or are you moving into implementation?

13:09If we were to speak a year from now, what would you hope to tell Forbes about what you

13:13have accomplished as a result of this research?

13:17That's a great question.

13:18So, yes, we will continue research into, you know, what are the best tools to assess risk

13:25across the population for cancers, for heart disease, et cetera.

13:29That's a real goal of the Healthy Nevada Project.

13:32But of course, you know, it becomes imperative to actually convert this into action.

13:42And so, again, you know, I'm lucky enough to work with the health system in northern

13:47Nevada that is extremely progressive.

13:50For example, we're building a new breast risk center thanks to generous donors in the community,

13:59the Conrads.

14:01And one of the reasons that's being built is because Nevada really is at the bottom

14:07of outcomes for women as it relates to breast and ovarian cancer.

14:13So putting these tools like the FHS-7 questionnaire that will soon be sent to every person in

14:21our health system rather than just asked by the doctor is something we're going to do.

14:27And then what we can do scientifically is we can say, okay, did this method work better

14:33than that method, report on it in the literature, and then hope that our colleagues across the

14:40United States adopt our best practices based on the evidence.

14:44The evidence is really what should drive the decision-making in healthcare.

14:49Evidence should drive decision-making in healthcare.

14:52That is worth underscoring.

14:53Joe Ginski, thank you so much for joining us to talk about this very important research.

14:58We so appreciate your time and your work.

15:01Thanks for bringing attention to it, Maggie.

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