Guest Column | January 19, 2017

Genetic Screening, Digital Biomarkers, And Cancer Diagnostics

By Harshal Shah, Cambridge Consultants

It’s well established that early diagnosis of cancer can dramatically alter prognosis and cure rates. The nature of the disease progression is such that early stage diagnosis can greatly impact overall quality of care, since early detection enables treatment of the patient with therapies that offer much less collateral damage and fewer side effects to deal with.

Now, the question is, how early is early enough? And an even more important question: How can we diagnose cancer sooner, and where exactly can technology and devices play a role?

This article, focused on the opportunities for innovation in cancer diagnostics, is the last in a four-part series exploring the role of medical technology innovation as it pertains to the distinct stages of cancer care: diagnosis, treatment, remission, and recovery and palliative care. (You can view other articles in this series here.)

Ideally, medical science would like to prevent of cancer altogether, through the use of vaccines, for instance. While this concept has long been a focus of cancer research, at this stage, it’s far from reality. Meanwhile, the healthcare industry has pursued other approaches to curing complex and late-stage cancers with a high degree of success and accuracy, such as immuno-oncology (IO) and targeted therapies like Opdivo. Opdivo has shown unprecedented results in curing late-stage non-small cell lung cancer (NSCLC) and metastatic melanoma, although cure rates for other cancers treated with IO drugs remain painfully low.

However, in the absence of vaccine, or a magic bullet drug that could cure any type of cancer, there is a need to focus on early diagnosis of cancer, which is the single most important – and often untapped – tool for success available to medical science in its fight against cancer.

A lot of emphasis is put on the proactive attitude of patients, and their ability to seek timely medical attention for “unusual” bodily developments. But the fact is that there are three distinct areas where innovation can play a critical role in improving early diagnosis. Making these technologies easily accessible, and developing a support system built on continuous monitoring of patient’s health, can alter patient behavior for the better, prompting them to take action even before symptoms become noticeable.

The first area where innovation can play a critical role in improving early diagnosis is genetic testing, used to identify high-risk patient pools. Second is development of a web of devices, integrated into the patient’s daily life and generating meaningful data to identify early indications of growing disease risk. The last, and most widely understood opportunity, is more accessible and affordable cancer screening, with improved accuracy. These three opportunities for innovation could significantly improve the timing and rate of cancer diagnosis if implemented sequentially and in tandem. Let’s look at each area in a bit more detail:

Genetic Testing — For a number of cancer types, there are well-analyzed “high-risk” patient demographics based on race, age groups, living standards, and occupational hazards. However, these risk groups remain loosely defined and, all too often, large numbers of at-risk patients fall outside of the classification standard for such high-risk groups. Indeed, for a number of cancer types, no concrete patterns have been identified that enable physicians to zero in on a specific, high-risk patient population.

While it may help, in some cases, to focus screening and awareness campaigns on identifiable high-risk patient populations, in my opinion, screening has to go beyond the functions of probability and individual subjectivity. Screening should hone in, instead, on the chromosomal level – that is, genetic testing to profile the risk of cancer.

Early efforts in this direction have been quite successful. Startups like Counsyl Inc. have commercialized genetic screening tests that analyze DNA to identify cancer risk with high degree of accuracy. If these cancer risk tests are as accurate as they claim, they could logically inform the next step of continuous monitoring for signs of cancer development. Such tests also would encourage proactive patient attitudes, where individuals who are conscious of their risk status would be more disciplined and mindful about their own health.  

There is tremendous potential to improve the way these tests are done, to make them more affordable, more accessible, and easy to roll out. Modern science has made marginal improvements in process, equipment, and reliability of DNA analysis since the days of Watson & Crick, but it remains a pretty lengthy and cost-prohibitive process to analyze DNA. As a result, genetic tests are expensive and are not reverse scalable for small operations, factors that directly, negatively impact their accessibility and ease of administration. Any innovation that could simplify the process of deriving DNA from blood samples, analyzing and profiling chromosomes, and/or automating the process at fraction of cost, has the potential to revolutionize this niche area.

Digital Biomarkers — Once genetic testing has identified a demographic with high cancer risk, the logical next step is to put them on “close surveillance.” It is a scary thought for some, but quite logical and conceivable, that great opportunity lies in leveraging connected devices to capture virtually any physical behavior, activity, or change in vital signs.

While the challenge of making sense of the massive data collected by wearables is ongoing and open to debate, the challenge of wider acceptance and adoption can be addressed through device design and development innovation. Design needs to improve dramatically in order to effortlessly blend into the daily lives of potential device users and ultimately gain wider acceptance.

Looking at the smart and wearable device market today, its single biggest hurdle is motivating the user to use his or her device consistently. Part of the reason for this challenge is that devices are still designed as separate pieces of equipment, requiring management and outputs interpretation provided by some primitive app or software.

The only way to bolster user motivation is to transform the world around the user. From smart clothing to smart homes and smart offices, there is a huge opportunity in evolving massive infrastructures to help the healthcare ecosystem continuously monitor high-risk patients.

If you find it hard to imagine the evolution of such infrastructure on a global scale, and the opportunities it could offer, consider these two examples. It took just 20 years from the invention of first cell phone for 90 percent of North America to be enabled with cell phone coverage. It also took just 30 years between development of the first jet engine for a single-seat plane and the launch of the 700-seat Airbus A380.

We may be looking at two to three decades of research and development, but imagine the innovation opportunities that these two examples offered on the way to maturity, and apply similar thinking to the field of health monitoring. Also, in the field of medical science, such a time frame for innovation is not abnormal.  Consider that a molecule takes eight to nine years from its first synthesis to commercial launch – if it gets there at all.

Molecular Diagnostics — Diagnosing cancer with traditional approaches, including cell diagnosis and biopsies, comes next. Though these methods are currently in use, practically, they should come last, as they are intended to improve the timing and accuracy of cancer detection. Once the high-risk patient population is identified through genetic testing, put on “continuous monitoring,” and then alerted to diagnostic indications through those digital biomarkers, they can be led to immediate cancer screening through blood tests and biopsies. Ideally, this is how the path to cancer diagnosis should look.

Opportunities in this area are widely understood and discussed, particularly with regard to their cost, speed, accuracy, and potential for minimal invasion. Cancer diagnosis is a rapidly evolving field that openly accepts new technologies if they show clear improvement over established norms. Since any innovation at this stage can be directly linked to tangible benefits, as compared to the two opportunities discussed above, opportunities in this area offer the path of least resistance, from a commercialization point of view.

In each of this series’ four articles, you will see a common theme of “thinking outside of box” when it comes to exploiting innovation opportunities in cancer care. Cancer care claims a massive share of overall health care spending and it is primed for breakthrough changes, as current models of care are unsustainable in the long term. In other words, we have reached a point in the innovation cycle where the status quo simply is not an option. Things are bound to change one way or the other, and opportunities can be found in virtually every direction. It’s only a matter of time before the care model embraces disruptive change in the way cancer is treated.

About The Author

Harshal Shah joined Cambridge Consultants in 2015 as head of oncology drug delivery, focused on growing the company’s drug delivery business in the U.S. — in particular, expanding its offerings in the oncology space. With more than eight years of strategy and management consulting experience in pharmaceuticals, biotech, and drug-device combination products, Harshal has a deep knowledge and understanding of drug delivery device design, development, and commercialization. His past experience includes working with Bristol-Myers Squibb, Johnson & Johnson, and PRTM Management Consultants, and managing his own practice as principal of Labyrintheus Consulting.