Precision and Personalized Medicine: The Role of Phenotypes

Phenotyping is the process of observing and measuring the observable traits or characteristics of an individual, often in the context of genetics or medicine. These traits can include physical characteristics, behaviors, biochemical markers, and other measurable features that provide insights into an individual’s phenotype. In the field of precision and personalized medicine, phenotyping plays a crucial role in tailoring medical treatments and interventions to the specific characteristics of each patient.

Phenotyping allows for a deeper understanding of an individual’s unique characteristics, contributing to more effective and targeted medical interventions. By integrating phenotypic data with genetic information, healthcare providers can make informed decisions that align with the specific needs of each patient, ultimately improving treatment outcomes and overall healthcare delivery. Phenomix Sciences is a precision medicine biotechnology company that brings data intelligence to the treatment of obesity. In this Q&A, Mark Bagnall, CEO of Phenomix Sciences, explains how phenotyping is driving the development of products to treat — and conquer — this disease.

MDB: How does phenotyping enable you to understand disease and tailor treatments?

Mark Bagnall: Based on the scientific discoveries of Phenomix’s founders, Dr. Andres Acosta and Dr. Michael Camilleri of the Mayo Clinic, obesity is not one disease but many, at least four of which can be determined by clinical examination, or phenotyping. Phenotyping looks at a patient’s DNA, metabolomics, hormones, and behavioral assessments to accurately predict their obesity type and tailor treatments that address it specifically. This paves the way for long-term weight loss by getting to the root of the problem.

MDB: How is precision medicine poised to change the future of obesity patient care?

MB: There is well-documented variability in response to obesity treatments, including diets, medications, devices, and surgical techniques. The conventional approach to treatment ignores this evidence — diet plans, drug therapies, devices, etc. are all marketed as if they are equally applicable to all patients. Without a systematic method of determining the right intervention for the right patient, patients and their physicians are subjected to a trial-and-error approach to their treatment until the right diet or drug or surgery is found. Obesity precision medicine solves this. It is an innovative approach that uses information about an individual’s genomics, and environmental and lifestyle information to identify their obesity phenotype and guide treatment decisions. Personalizing treatments can reduce variability in patient response, improve outcomes, and reduce overall healthcare costs.

MDB: How does phenotyping affect patient adherence to medication?

MB: The current trial-and-error approach to obesity treatment costs patients a lot of money, time, and sometimes unbearable side effects. This approach leaves patients frustrated and not willing to adhere to treatment. If we use precision medicine when approaching obesity treatment (through phenotyping), we have a significantly higher chance at getting patients on the right treatment the first time, resulting in greater outcomes and adherence.

MDB: Why is obesity a disease that would benefit from precision medicine?

MB: Any time there is variability in response to treatment, that variation suggests that precision medicine is an appropriate approach. In oncology, for example, research institutions have observed variation among different types of cancers and treatments and are beginning to get to the root cause of why cancers are different. They’ve been successful in using that knowledge to customize treatments, bring new treatments, and identify patients who would benefit from different types of treatment.

One thing that has been clear about obesity for a while — and has been clear to obesity practitioners — is that there’s variability in response. This variation suggests that precision medicine is needed in obesity, much like it is needed in oncology.

In 2013, the AMA categorized obesity as a disease, which opened the door to treating it with multi-modalities of treatment to include medicine and surgery. As the obesity rates rise, it becomes ever more critical to quickly identify who will respond to specific diets, medications, or procedures based on their unique characteristics or phenotype.

MDB: Why do phenotypes aid in the treatment of obesity?

MB: Phenotyping enables us to understand the type of obesity disease people have and tailor treatments that address it specifically, for the first time ever. Beyond that, it changes the conversation around obesity and explains to patients that they have a genetic predisposition to obesity resulting in their lifelong struggle — and it’s not a moral failing. In addition to scientifically treating the disease, phenotypes also address the emotional side of obesity and debunk the shame that these patients have felt for decades.

MDB: What are the primary goals of a product like the MyPhenome test?

MB: We believe knowledge is power, and the ability to diagnose and treat patients with the right diet, the right medication, or the right procedure will be a major step forward for curing obesity. Obesity treatment is not a one-size-fits-all approach, and phenotyping is the only way to personalize treatment by arming doctors with information that allows them to feel confident in the treatment plan.

The primary goal for physicians and patients is for the patient to receive the best possible treatment as soon as possible in their treatment cycle. For the healthcare system as a whole, the goal is for the patient to be treated as quickly as possible with the right intervention so time and money aren’t wasted on wrong interventions.

MDB: How does the test work?

MB: We have launched our first two saliva-based genetic tests, MyPhenome Hungry Gut and MyPhenome Hungry Brain, to identify an individual’s phenotype. This test is a simple cheek swab that can be performed in a provider’s office and sent off to a lab to look at about 6,000 gene variants to determine the patient’s phenotype. From there, the provider receives a report that identifies the patient’s phenotype, and provides recommended treatment options that can include medications, surgical approaches, and/or lifestyle interventions.

MDB: Do you have forward-looking plans to extend phenotyping to other diseases?

MB: Eventually, yes. We expect the field of obesity to remain our focus for quite some time. We believe that similar to oncology, obesity will have various subtypes and levels, and we’re not even close to the end of the road to discovery.

That being said, when dealing with a chronic disease such as obesity, accompanied by numerous comorbidities, it’s intriguing to explore whether specific phenotypes are predisposed to certain associated health complications. For example, if you have been identified as having a Hungry Gut phenotype, we will begin to see what other disease states are commonly seen with a Hungry Gut phenotype — like type 2 diabetes, heart disease, or hypertension. We will be able to evaluate all of these different diseases related to obesity with our algorithm.

MDB: Can you provide a brief overview of the research that led to the development of the test?

MB: Phenomix’s founders have spent decades researching obesity through a number of clinical trials and nearly 800 patients. Before patients were treated with a specific obesity intervention, they went through a series of tests to measure quantifiable traits of obesity (like calories to fullness and how fast food goes through the intestines). These patients’ genes were then measured, and nearly two million gene variants were observed. The key to Phenomix’s discoveries is the three-way association of measurable traits, biomarkers, and clinical outcomes.

Phenomix’s founders found that obesity is not a single disease with a single treatment type, but a constellation of diseases (or phenotypes). Understanding a person’s obesity phenotype — the combination of genes with environmental and behavioral factors — can help pinpoint the cause of weight gain. Phenomix’s technology is based on research from its physician founders, Drs. Acosta and Camilleri of Mayo Clinic. Their research has demonstrated that when phenotyped and prescribed the right medications, patients can achieve up to twice the weight loss of those not phenotyped.

MDB: What does the future hold for the development of personalized and precision medicine?

MB: We’re in an amazing place when it comes to obesity medicine specifically. Ten years ago, this wasn’t even considered a disease and very little research was being done. As a result, 100 million people in the U.S. alone were suffering without much support, from their providers or peers. Now we’re in a place where drug companies are spending real money, and our company and founders have a hypothesis of how to get people on the right path with these new medications. Together, we’re going to help people, and it’s long overdue.

Phenomix Sciences is based in Santa Clara, CA. For more information, contact Mark Bagnall at This email address is being protected from spambots. You need JavaScript enabled to view it. or visit here .

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