How Genome Sequencing, AI and Pay-For-Performance Delivery Drive Precision Health » Digital Health Institute for Transformation

By Rahul Patel, Forbes | February 12, 2019

Precision health has become all the rage lately, as it holds ramifications that reach deep into the prospects for success for new models of health care, including pay for performance. So how can precision health benefit patients and the clinicians who care for them today? It starts with an understanding of precisely what it entails and what it can achieve.

While there have been different definitions and explanations of precision health, the Indiana University School of Medicine provides a good one, stating that it “is a highly personalized approach to prevention and treatment that takes into account individual variables in genes, environment and lifestyle.” Precision health is all about predicting and preventing disease — not just treating it — to reduce health care costs. At my company, my group works directly with a number of health care systems and providers who are working to achieve these goals, and through key digital transformation initiatives, they are quickly realizing them. Today, three key drivers are enabling precision health: genome sequencing, innovative artificial intelligence-based technologies and a pay-for-performance model of health care.

Artificial intelligence and connected devices gather and translate genomic and lifestyle data for better insights.

Laser-focused genome sequencing provides a plethora of information that feeds data-hungry artificial intelligence to spot disease markers in patients. But it goes even further. Connected devices and wearable technologies, which track patient health data, have enabled a whole new scope of offerings. When information such as blood sugar levels, blood pressure and heart rate can be sent through cloud-based interoperability to artificial intelligence (AI)-based algorithms, a clinician gains a personalized health profile of a patient. Through this data, highly customized treatments can be developed for the patient. This methodology, tightly matching treatment to the unique life circumstance of the patient, strengthens the role of precision health.

A recent example of this approach in action comes from my company’s collaboration with client Johns Hopkins University. The platform developed in this case can characterize the biology of a patient and factor in other clinical and socio-demographic characteristics to improve prevention and treatment efforts for tuberculosis and HIV.

The Institute of Systems Biology has developed a novel approach for building models by using publicly available genomics and clinical data for glioblastoma. They believe that this approach can be applied to other types of diseases.

In another example, scientists in the United Kingdom developed an online tool that could help doctors better calculate a patient’s breast cancer risk. The tool will look at factors such as family history and alcohol use, among others.

The pay-for-performance model will spur growth of personalized, data-driven patient care.

As part of a national strategy to transition to value-based care, pay-for-performance initiatives are working to improve the quality and value of health care by rewarding clinicians, health systems and other providers with financial incentives to achieve good patient outcomes and performance metrics, such as low patient readmission rates, timely use of diagnostics and improved patient conditions.

Precision health is providing the antidote to providers who are turning to technology and genome sequencing to deliver more successful and relevant patient care and treatment. Providers want to proactively identify markers that can prevent ailments and conditions before they occur — whether through treatments or lifestyle changes. This type of targeted, data-driven diagnosis and insight can ultimately save enormous costs and help providers become better compensated for successful outcomes, while transforming health care and bringing about a new generation of informed providers, payers and patients alike.

Genome sequencing provides the blueprint.

Genome sequencing provides unique information about a person’s genetic code (DNA, RNA, etc.) to understand better and predict the likelihood of certain diseases, how the person will react to specific treatments and what may be the causes of a disease in the person. Genome sequencing also provides insights into the evolution of disease over time and environmental and lifestyle factors that may impact cells. This helps in identifying preventive measures, such as lifestyle changes and wellness regimes, most suitable for the patient.

Natural gene sequencing is playing a critical role in precision health and making significant gains in clinical research. However, it is still struggling for widespread adoption in clinical care as most physicians still do not understand genomic data and ways to interpret it. Today, genetic counselors are filling this role for them.

Genetic counselors are specialists, typically working in a clinic or hospital environment, who help patients interpret results and evaluate the risk that an inherited condition may present, according to the National Society of Genetic Counselors. The NSGC states there are more than 4,000 certified genetic counselors, but the problem is that this is not enough to meet the needs of every physician practicing across the country. As the popularity of genomic sequencing continues to increase and its role in precision health continues to evolve, however, we can expect to see not only an increase in students pursuing professions in genetic counseling but also greater awareness among physicians for its critical role in health care. There is also a need for solutions that will enable physicians to map phenotypic information to information coming from genomics testing.