screening cancer risk for inherited mutations: an interview with Ted Snelgrove -
insights of industry Ted Snelgrove Chief Business Officer at Counsyl, Inc. Interview by April Cashin-Garbutt , MA (Cantab)
How many people are suspected of having inherited cancer mutations and what impact these have on your risk of cancer
Great question - the answer is actually unknown. Each month, there are publications that reflect new genes linked to cancer, so it is a great knowledge growth area for now.
Counsyl cancer screening panel recently rose 22 genes at the beginning of the year up to 36 (if you order the full panel). There is a growing panel could possibly get into the hundreds as our collective understanding of the genes that are associated with hereditary cancer grows.
There are people who have high chances of a risk of hereditary cancer. This does not mean that they will get cancer; it just means that they have genes that increased their risk of cancer.
is really based around the evaluation of the probability of cancer risk, as opposed to a baseline risk in the population. Here's how these statistics are often reported, so you can understand how your personal risk.
What we are involved in is an active area of research. Over time, regardless of hereditary risk, humans almost always have sporadic mutations that occur on a regular basis.
This is why it is more common for adults to have cancer because they lived longer and accumulated sporadic mutations throughout their lifespan. This increases their risk collectively over time, which is in addition to their hereditary risk.
One of the research objectives helps people have a better immunity. Many therapeutic strategies are based on the activation of the immune system to try to ensure that it does a better job of identifying and clearing mutated cells
The question of cancer risk is a response constantly changing. it is one we will continue to learn about the weather. In any case, we are trying to understand more of this because we have a large population of patients tested who came to us for the reproduction tests, not necessarily because they were concerned about the risk of Cancer.
What impact with knowledge of a hereditary mutation have for individuals? What changes can be made?
There will depend to some extent, whether or not they are in treatment. Essentially, there are two types of patients.
with someone who does not currently have a diagnosis of cancer, but is concerned about the risk, is tested, and recognizes that they are at high risk for a particular type of inherited cancer, the first thing that happens is they undergo enhanced medical supervision.
According to the cancer site for which they may be at higher risk, it can mean increased diagnostic testing, imaging, or other types of follow-up doctor, allowing things that might to arise to be picked up earlier.
There are also cases where people will choose to pursue elective procedures to reduce their risk, including surgery, like Angelina Jolie did. This option is usually reserved for patients who do not currently have cancer.
Of course, for patients who receive tests in oncology today because they already have a cancer diagnosis, it is different. The risk of cancer has been resolved and, unfortunately, they have it.
In a subset of these cases, it is becoming important to understand the genetics of their cancer to determine whether it was inherited or not, because it could change the surgical strategies or treatment.
For example, I was talking to a doctor last week who wanted to understand the genetic signature of these newly diagnosed patients because they were trying to decide what type of surgery to perform.
If a patient with breast cancer have inherited a high risk and is scheduled for unilateral mastectomy, they may be more likely to offer a bilateral mastectomy patient. If an improved ovarian risk is also implied they can do oophorectomy as well.
If the patient has no hereditary risk, the clinician is often not going to recommend these additional procedures. That data quite feasible in the population who was diagnosed today.
We also found that patients who were tested by other means and who have had their tumors profiled, it is also useful in a subset of these cases to understand the signing of the patient background DNA so that you can determine whether or not the tumor that you look has a hereditary component risks. This could change the way a doctor chemotherapy treatment approach and the way he or she recommends testing for parents of the patient.
There is a picture changing. Just a few years there was not much data to support the use of DNA results in the context of treatment planning for patients already diagnosed, but that changed just in the last years with growth profiling of the tumor.
This profiling looks at the signature of the DNA or RNA of tumor cells, which is then compared to DNA base underlying the patient, and the two together provide more information than either one alone.
This is a relatively recent development in oncology and is likely to grow over time as our understanding of how to make computers becomes deeper. One area of growing of great interest.
How many different options that people now have the genetic testing and why Counsyl seeks to expand access?
There are a number of different ways to get genetic testing in the United States today. I can not speak with authority about the other countries, even though I know it's happening all over the developed world.
We offer what we believe is a differentiated service to people and actively pursue the promotion of this offer.
Counsyl built our test system and offer services around the OB or obstetrics, community. How we perform genetic counseling proves to be very much appreciated by the practices themselves.
Our market research has shown that the practices in oncology that we spoke to were interested in having the same level of genetic testing and counseling service and support we provide. So we bring this level of service in the oncology market for the first time this summer we are launching in this area.
Because we have offered different types of genetic testing, we can do something that our competitors can not. We actually have a broader understanding of all the genes of reproduction, where there was a huge amount of searches. Our experience in the reproduction tests gives us some advantages
We also believe that this is an area in which we all need to learn together because there are so many new emerging knowledge -. We are participants in large databases, public. There is a large one called ClinVar, a public database where companies can present new information on genomic variation.
If they have learned about a new gene or how to characterize a novel gene and understand the risk, for example, this information will be presented in the public database, which all companies and institutions teaching can be used as a shared reference. It is a way we can all learn together.
Counsyl is an active contributor to the ClinVar database in the United States. It means a lot to some of our physicians and patients because they want to know that, while we are not using their data in a way that undermines their privacy, we collect our learning in a way not identified, share our new genetic information into the database, which allows others to benefit from this information as well.
There are quite a few people in the oncology community who said they would prefer to work with a laboratory that is to participate in these shared databases. Otherwise, they feel like they are the most powerful companies without help advance science and medicine beyond that.
We also try to ensure that we offer what we believe to be the right genes. There are many genes that are known to be associated with different types of hereditary cancer, but only some of them have reached a level of confidence around this association with cancer and related actionability such as surveillance or surgical factors I mentioned, which allows them to be reported to our level. You must draw the line somewhere.
There is an organization in the United States called the National Comprehensive Cancer Network (NCCN), which draws that line. Major academic cancer centers in America gathered there 20 years and has developed a set of guidelines for cancer care in all subscribe to and are updated on a regular basis, at least once a year.
The NCCN recommended genes that they believe are currently the largest reported in these cases and related actions that can be taken from the knowledge that these genes are affected.
We base our panel on what we know the NCCN decided is appropriate and clinically action. This means that we put at the disposal of a group which, complete with up to 36 cancer-related genes, we are not reporting on hundreds of genes, most of which are quite experimental, experimental and mysterious .
In our view, the reports on these genes could lead to unnecessary anxiety downstream, costs for patients of all set and also a lot of confusion between the doctor and the patient trying to understand the information.
It is important to realize that for the most part, these genetic tools are offered to the community and health professionals who have never been formally trained in genetics during their medical training because advanced field so quickly and recently.
We must be aware that our health professionals also learn with us and need concrete information. Do not get in the investigation, the hypothetical research is something they appreciate
Many doctors are still working to integrate genetic data and knowledge from the genes that we have identified in their practices - . We can not confuse the picture with lots of experimental noise.
As NCCN upgrades recommendations, and increases the number of which could inevitably in a few years, hundreds of genes, we will stick with the NCCN and continue to upgrade along with them so always giving us cancer genes we know have been identified and recommended at this level.
This also means that we are able to provide a genetic testing service that is recognized by health plans in the United States. health plans really want just to pay for the genetic test that has clinical utility
This approach also takes a big load off doctors because they know that service is covered. they need not worry about whether or not patients will have coverage for our tests. By tying that all together and having the right pane and the right genes to the right patients at the right time, and then upgrade that over time, we believe that we will provide physicians what they really want.
We are also offering subgroups because we can customize the way we do. That some people do not want 17 genes linked to gastrointestinal cancer or 8 genes related to something else - we actually the ability to be highly customized in terms of what we offer
What are the main challenges and to increase access. how Counsyl plan to overcome these?
I think education, access to genetic counseling and the economy are the three main challenges facing us in the journey to make genetic testing more widely available and adopted quickly.
education is essentially the first hurdle in the field of medicine. Genetics is still a region where many doctors and their staffs have a steep learning curve. Over time, they become more competent, access will be improved for men and women who can benefit from screening.
Another obstacle is access to a good genetic counseling. Counsyl genetic counseling on demand. As far as I know, we are unique in this regard. When we test patients, they are able to get genetic counseling at the request on the same day they receive the results, and often in the same time - a big difference in how we approach our service
access to testing. Perhaps only half the battle, because if a patient comes in with a positive result, it is essential that they understand the meaning and what options are available because they consider the next step.
many health professionals may not feel comfortable having this discussion. By virtue of having trained genetic counselors who are experts, patients who can walk through the report and answer all their questions, we provide a real return to the health care team.
Interestingly, many of our calls are also health professionals themselves who are preparing to talk to patients and want to make sure they say the right thing.
access to high level at the request of genetic counseling is something that we know is rare and not always available with other groups. In large health care systems, it can take weeks or months to get an appointment with a genetic counselor, because there is not enough in the United States today.
will become even more of a problem over time as more genetic tests is conducted, because the number of councilors is not growing fast enough to follow.
another obstacle is cost. The cost of genetic testing has reduced a lot during the last decade. The kind of tests we do today was exorbitantly expensive there about ten years, but now the technology and its cost efficiency are greatly improved.
We have done our best to make sure to lower our costs and provide screening at an affordable cost. This is another reason why we have worked our tests covered as an insured service network, so that patients can rely on their health plans to cover costs.
Can you please preview the pilot Counsyl Firstcare?
Firstcare is a software tool to identify patients who have a personal or family history of cancer that suggest they are at increased risk for an inherited form of cancer, and therefore would be good candidates for genetic testing.
One of the things that doctors tell us that they do not really know how much of their eligible patients according to the eligibility criteria for testing.
With Firstcare, we have the ability to generate invitations patients who come from doctors themselves, asking the patient to perform a document family history that would confirm their eligibility and allow the doctor to have a history family and genetics on the case. They do not really do anything except tell us to go ahead and let Firstcare identify their cases.
One of the things we see is because genetics is new and not something most practices have been built around, the more you can build a solution turnkey limiting the extra work required within a practice, the more it is likely to be adopted and used.
We have done our best with Firstcare to resolve this issue to determine who is eligible and therefore bring in trials under the use of this software agent. Over time, one of the quality metrics that will be used for quality practices in America will be your number of patients who were eligible for the trial were offered tests.
I think it is important to emphasize that it is also a change in the eligibility criteria. Eligibility criteria which dictates that qualifies for today's test is quite narrow. We made a pretty big study last fall in the Bay Area where we brought people to test free of charge, just to see what we would find.
Forty-six percent of women that we found that had genes that raised their risk of cancer, did not meet the criteria that qualified them for testing -. an impressive gap clearly indicates the need for updating these standards
People are offered counseling before genetic testing to discuss concerns ?
once patients are determined by the clinician to be eligible for testing, they are able to speak with a genetic counselor who can answer any questions they may have about their results test.
over time, the field can see the education systems and consulting pretest emerge more automated because it is a simple discussion, relatively consistent. However, it may be a development that was born of necessity, because there is not enough genetic counselors to fill the pre-test demand.
In the short term, the other thing that will happen is that doctors will receive their own certifications in genomics, strengthen confidence in the transmission of results, and to pursue education to the point that they can feel they can offer advice on their own, without referring to any third party continues.
Counsyl What is the vision for the future as regards the screening of cancer risk?
We believe that, over time, the penetration of genetic testing will continue to grow. You can imagine a time in the not too distant future, when everyone is offered the basic genetic test to assess their risk for rare inherited disorders, including cancer is one of the most important. Ultimately, our hope is that testing becomes a routine part of preventive care.
The increase is important, especially as you begin to collect data at the population level that helps you understand the health trends at the macro level. As costs are low and the understanding of the genetic information improves, the impact is inevitable.
We are ready to evolve with the market and help to extend the application of genetic data in the context of health care, particularly in the context of preventive health and treatment. It's just early days, but there is evidence to show that some of the cancer patients who undergo genetic profiling of their tumors, will also benefit from germ tests.
As the science matures and we learn about how a person of genetic background plays in terms of a cancer diagnosis in progress, we will be able to develop better treatments and prevention options.
You will see that cancer is not the only place where it will happen. Other chronic diseases will also look to it. We are part of a larger wave that will increase the penetration of genetic testing in the general population over time, and we see that as inevitable. It's just a matter of time, technology and government policy.
As the value of information increases, the cost decreases, the understanding grows and therefore the mystery back. This will become ubiquitous.
In the long term, patients who are identified by many who may be at risk of a particular type of cancer are on the most effective supervisory regimes. As research in this area is developing, preventive therapies and other treatments are bound to emerge.
What impact do you think that increased access to genetic testing on cancer survival rates going forward?
I think that will play in a couple of ways. The first is that, as people get usable data at the beginning, they can do what is necessary to seriously reduce the risk
These risk reduction practices are surgical. some will pharmacological changes or based on lifestyle, but they will reduce the incidence of cancer in general or allow it to be detected and treated at an early stage.
In addition, for patients already diagnosed, the ability to receive personalized treatment will depend increasingly on an understanding of the genetic basis of tumor.
I do not want to underestimate the amount of effort it will take, but it is amazing that we are finally beginning to understand patients and biology at the individual level, and allowing for inform their own care.
This is a concept that people wanted to continue for a long time, but they have the technology to understand how the patient differs from one patient B. This is our ultimate goal, and we hope to see a measurable increase in the long-term survival in all cancers in the long term, based on a better understanding of genetics.
Where readers? more information
We have lots of information and great resources available on our website: https://www.counsyl.com/. We also published our data at: http://research.counsyl.com/
About Ted Snelgrove 
M .. Ted Snelgrove was Chief management business in Counsyl, Inc. since January 2016. Mr. Snelgrove is responsible for product management and conduct of business strategies for Counsyl. Mr. Snelgrove was previously CEO of Cellscape Corporation since July 15, 2013.
He also served as Head of Oncology / Hematology Business Unit at Jazz Pharmaceuticals, where he led a growing division focused on hematological malignancies and stem cell transplant. Mr. Snelgrove has nearly 20 years of experience launching complex products in the field of health. He has 25 years of management of commercial products and team leadership experience.
M .. Snelgrove has extensive experience in the molecular diagnostics industry, having built and led the original sales team at Genomic Health that created and launched the Oncotype DX product line.
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