By Jessica Kent, Health IT Analytics | August 8, 2019
Precision medicine is quickly moving from the lab to real-world clinical settings, and organizations are looking to apply these strategies to chronic disease management.
In recent years, the field of precision medicine and genomics has developed from an exciting research venture to a concrete, deployable solution.
Holding the potential for more targeted treatments, personalized care, and better patient outcomes, precision medicine has caught the attention of organizations across the care continuum, and researchers have increasingly demonstrated that it could revolutionize care delivery.
While precision medicine is frequently associated with and applied to cancer care, scientists have expanded their efforts to address other common chronic diseases with precision medicine and genomics methods.
What are some of the common chronic conditions that researchers are addressing with precision medicine strategies, and how can these strategies result in better patient care?
DEVELOPING PERSONALIZED ALZHEIMER’S CARE
Alzheimer’s and other cognitive disorders are among the most prevalent chronic diseases impacting individuals across the US. According to the Alzheimer’s Association, 5.8 million Americans are currently living with Alzheimer’s, and by 2050 that number is projected to increase to nearly 14 million.
READ MORE: Studying Diverse Populations Will Strengthen Precision Medicine
With these patients generating healthcare costs in the billions and trillions, there is a significant need to discover innovative methods of treatment for the disease.
Precision medicine could be a viable solution.
In July 2019, a study published in Frontiers in Aging Neuroscience made the case for providers to use a precision medicine method to treat and prevent cognitive disorders.
The team of researchers stated that this method would enhance the current “one-size-fits-all” approach the industry takes to Alzheimer’s, dementia, and related conditions.
“Taking a precision medicine approach, the question is no longer ‘Does treatment × work?’ but ‘Who does treatment × work for?’ Identifying the characteristics of ‘non-responders’ becomes as important as ‘responders’ in understanding the impact of a particular intervention,” the group said.
READ MORE: Effective Precision Medicine Requires Moving Beyond the EHR
“Such an approach may result in considerable health benefits by allowing more effective selection of individuals for treatments based on a priori known profiles of disease risk and their potential response to treatment.”
Their argument is supported by recent research. At the University of Buffalo, scientists discovered that a human gene present in 75 percent of the population is a key reason why a class of Alzheimer’s disease drugs failed in human studies, despite seeming promising in animal studies.
The findings suggested that different mechanisms are at work in different Alzheimer’s patients, indicating that a personalized approach is more suitable for treatment of the condition.
Additionally, in 2018, investigators from Boston University School of Medicine discovered new genes that could contribute to the onset of Alzheimer’s. This was a significant step in identifying the variations that play a part in Alzheimer’s risk or protect against it.
The Frontiers in Aging Neuroscience study presented a Precision Aging model that examines the risk factors of cognitive disorders, as well as potential targets for intervention and prevention efforts. Each individual could be characterized based on a profile of risk categories and genetic variants, leading to more personalized treatments.
TARGETING DIABETES TREATMENTS
READ MORE: NIH Clinical Trials Apply Genomics to Chronic Disease Management
As a chronic disease that can affect almost every part of the body, diabetes is a condition that requires consistent, targeted care.
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) has made precision medicine for diabetes a priority with its Diabetes Genetics and Genomics program. The program serves to identify the genes and intergenic regions that predispose to or protect against type 1 or type 2 diabetes.
The program funds studies that aim to discover diabetes genes in human populations, interactions between genes and environmental factors, and genetic differences in populations that can lead to health disparities. The program currently has 98 active studies, which the institute expects will result in better diabetes care.
“By determining the genetic mechanisms underlying these diseases — and how genetic and epigenetic variation influence therapeutics — researchers should be able to develop better therapeutics and prevention strategies,” NIDDK states.
Other organizations have sought to apply precision medicine techniques to diabetes treatment. Massachusetts General Hospital recently found that interventions focused on individuals’ genetic profiles can help reduce the risk of type 2 diabetes in susceptible patients.
The group found that the quality of dietary fat consumed and the genetic risk of diabetes work independently of each other, revealing that a diet rich in polyunsaturated fat can be safely applied across the spectrum of type 2 diabetes risk.
“The positive association between polygenic scores and type 2 diabetes we reported acknowledges the fact that people at higher genetic risk could benefit from additional strategies that have nothing to do with dietary fat intake,” said Jordi Merino, RD, PhD, of the MGH Diabetes Unit and Center for Genomic Medicine.
The findings could inform future diabetes intervention strategies, enabling providers to focus on measures that will truly reduce individuals’ risk of developing the condition.
STREAMLINING ASTHMA CARE PLANS
Asthma is an incredibly complex chronic condition, associated with genetics, environmental factors, activity levels, and the immune system. With so many factors involved, it makes sense to target care plans to individuals’ specific needs, rather than apply a single form of treatment.
Recent research has provided further support for a precision medicine approach to asthma treatment. A recent review article published in the Journal of Allergy and Clinical Immunology showed that integrated multi-“omic” studies could help identify asthma subtypes and accelerate personalized care for the disease.
In another study, conducted by the National Heart, Lung, and Blood Institute (NHLBI), researchers found that inhaled steroids were no more effective than placebo in nearly three-fourths of the study patients. Inhaled steroids were better than placebo for a subset of patients who had high levels of a particular type of inflammatory cells, called eosinophils.
The results indicate that it may be possible to target particular therapies to subsets of patients.
“This study adds to a growing body of evidence that different patients with mild asthma should be treated differently, perhaps using biomarkers like sputum eosinophils to select which drugs should be used—a precision medicine approach,” said James Kiley, PhD, director of the Division of Lung Diseases at NHLBI,
In 2018, Mount Sinai Health System sought to put this idea into practice. The institution partnered with Sanofi and Sema4 to launch a five-year, multisite study designed to advance precision medicine therapies for asthma patients.
The collaborative effort will follow nearly 1,200 people with asthma and collect genomic, clinical, and mobile device data to allow for advanced analysis of the condition.
“Understanding how to develop new treatments for asthma starts with a better understanding of the disease,” Frank Nestle, Global Head of Immunology and Inflammation Research and Chief Scientific Officer, North America, at Sanofi, said at the time.
“Our goal is to develop a holistic view of each patient in the study, which is why we’re excited to add digital technology to the traditional types of medical examinations conducted in this study. It’s a new way to approach this enormous problem, connecting real-world clinical and scientific data, that we hope will translate into new ways to treat asthma.”
The field of precision medicine and genomics holds a lot of promise for healthcare and chronic disease management. Going forward, the many efforts of researchers and organizations across the industry will further advance these strategies to improve patient care and outcomes.