Personalized Healthcare

The “one-size-fits-all” approach to healthcare might soon be a thing of the past. A novel approach called precision medicine is expected to usher in a new era of healthcare that is specifically tailored to a person’s genes. The adoption of precision medicine will help save more lives from cancer, and in the future, from rare genetic diseases, chronic conditions and infectious diseases.

Precision medicine (which is used interchangeably with “personalized medicine”) is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person. This approach will allow doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people.¹

Precision medicine is being advanced through data from the Human Genome Project (HGP). Conducted between 1990 and 2003, the HGP generated the first sequence of the human genome. Then, the HGP sequenced all the DNA, which involved determining the exact order of the bases in DNA that improved the methods for DNA sequencing.2

The potential long-term benefits of research in precision medicine include:¹

1. a wider ability of doctors to use patients’ genetic and other molecular information as part of routine medical care;
2. an improved ability to predict which treatments will work best for specific patients;
3. a better understanding of the underlying mechanisms by which various diseases occur;
4. improved approaches to preventing, diagnosing and treating a wide range of diseases; and
5. better integration of electronic health records in patient care, which will allow doctors and researchers to access medical data more easily.

The U.S. Department of Health and Human Services and the private healthcare industry are working together to move the precision medicine field forward for the betterment of everyone’s health.

Personalized Medicine Coalition — Plans, Studies and a Conference

Launched in 2004, the Personalized Medicine Coalition (PMC) represents innovators, scientists, patients, providers and payers, and promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and health systems.

PMC explains that personalized medicine is an evolving field in which physicians use diagnostic tests to determine which medical treatments will work best for each patient or use medical interventions to alter molecular mechanisms that impact health. By combining data from diagnostic tests with individuals’ medical histories, circumstances and values, healthcare providers can develop targeted treatment and prevention plans with their patients.

PMC President Edward Abrams says its Strategic Plan for Advancing Personalized Medicine in 2023 “arrives at a moment when the contention upon which PMC was founded — that a paradigm shift toward personalized medicine will not occur just because new tests and treatments have become available — is more evident than ever.”

PMC research shows that due to the influence of testing and treatment difficulties occurring at each of seven steps in the precision oncology pathway, personalized medicine benefited only 36 percent of a cohort of 38,068 patients diagnosed in 2019 with advanced non-small cell lung cancer, a disease that presents major opportunities for a genetically personalized approach. According to PMC, with more than 100,000 genetic testing products and 300 personalized medicines now on the market, we know we can do better than this to help turn the tide against many of humanity’s most dreadful biological foes.

In this context, PMC’s three-part strategic plan explains what the coalition aspires to do in 2023 to increase investment in personalized medicine and help close the gap between what is possible and what is practiced in modern medicine.³

In 2022, PMC said the U.S. Food and Drug Administration (FDA) achieved many milestones in the field of personalized medicine. FDA approved 12 personalized medicines (therapeutic molecular entities); approved five new gene or cell-based therapies; cleared or approved new or expanded indications for 12 diagnostic testing systems; approved a new therapy to treat non-small cell lung cancers characterized by tumors with KRAS G12C genetic mutations; released a draft guidance document titled Human Gene Therapy Products Incorporating Human Genome Editing; and approved a new personalized therapy for a rare eye cancer.⁴

According to PMC’s Strategic Plan for Advancing Personalized Medicine in 2023, the Coalition will explore the evolving value proposition of personalized medicine across multiple disease states. Member-facing communications will help decision-makers track and tackle key challenges facing personalized medicine. And, patient-facing educational initiatives will prompt more point-of-care conversations about molecularly targeted treatments and the ways in which various medical interventions may alter patients’ lives.

PMC’s advocacy efforts will continue to address emerging questions about how and when to regulate, pay for and integrate the innovative diagnostics and treatments underpinning personalized medicine into health systems whose capacity is already stretched by efforts to develop and equitably deploy “one-size-fits-all” medical interventions.

And, PMC’s research portfolio will continue to focus on generating evidence to support the clinical adoption of personalized medicine.⁵

According to PMC Senior Vice President of Public Affairs, Chris Wells, “PMC’s programs promise to help address the growing gap between what is possible and what is practiced in personalized medicine. By educating patients and providers about opportunities in personalized medicine, the PMC helps prompt conversations about it in clinical settings. By advocating for supportive public policies, the coalition helps to make it easier for business leaders and clinicians to develop and integrate the tests and treatments underpinning personalized medicine into clinical practices. And, by examining clinical integration opportunities and challenges, the PMC’s research helps to direct the field’s leaders toward the most pressing obstacles slowing the pace of progress in the field. All of this is designed to bring us one step closer to the day when every patient can benefit from the right prevention or treatment strategy at the right time.”

PMC also plans to conduct three studies in 2023. The first study will evaluate progress in healthcare by studying payer policies and perspectives on personalized medicine and provide a landscape analysis of what they find. The second study will assess clinical and economic value of personalized medicine by studying the improvements in clinical care associated with personalized medicine. The third study will examine clinical integration strategies by addressing disparities in research advancing personalized medicine.⁶

And, on Nov. 30 and Dec. 1, 2023, PMC will hold its 17th annual personalized medicine conference. “By examining the opportunities and challenges facing the industries whose work drives progress in personalized medicine, this year’s conference is designed to provide a comprehensive overview of the status and outlook for the field 20 years after scientists announced the completion of the Human Genome Project in 2003,” says Wells.

NIH’s CSER/IGNITE/SPARK/All of Us Research Program

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, founded in 2010 by the National Institutes of Health (NIH), is rapidly advancing the knowledge necessary to develop best practices for the implementation of genomic sequence data into clinical care.

Anna Rogers, MA, a science writer with the NIH Office of Communications, says, “Currently, the second phase of CSER, which started in 2017, includes six clinical sites and the National Human Genome Research Institute Intramural ClinSeq Study Coordinating Center. An additional focus has been placed on clinical utility and the recruitment of ancestrally diverse and medically under-served populations. As of June 2022, CSER had recruited [fewer than] 5,200 participants, 75 percent of whom are from underserved populations.”

The first phase of the Implementing Genomics in Practice (IGNITE) Pragmatic Trials Network (PTN), founded in 2013, is an NIH-funded network dedicated to supporting the implementation of genomics in healthcare and includes new genomic medicine studies.

The goal of the first phase of IGNITE was to expand the implementation of genomic medicine across different clinical settings and in diverse populations. These pragmatic clinical trials aimed to incorporate genomic information into electronic medical records and to provide clinical decision support for the implementation of appropriate interventions or clinical advice.

The second phase of IGNITE began in 2018. The PTN is comprised of five multi-site clinical groups and one coordinating center involving diverse settings and populations to conduct clinical trials of genomic medicine interventions.⁷

“IGNITE is currently conducting two large, network-wide, genomic medicine [pragmatic clinical trials (PCTs)], which will allow for bigger, more efficient clinical trials and help researchers and clinicians understand what to expect in real-world clinical settings. These PCTs are ADOPT-PGx, a depression and opioid trial in pharmacogenomics, and GUARDD-US, genetic testing to understand renal disease disparities,” says Rogers.

The IGNITE Genomic Demonstration Projects incorporated genomic information into electronic medical records and provided clinical decision support for providers across diverse healthcare settings. The sites worked together to develop new methods and projects and disseminated their findings to the public.

One outlet for public distribution is the SPARK Toolbox, which provides genomic medicine resources for clinicians and researchers. Dissemination of these methods and developing best practices for implementation is a key goal so that the information generated from the program will contribute to the growing knowledge base of using genomic information in patient care.

Another NIH research program known as All of Us has a goal to invite more than one million diverse people from across the United States to help build a database that can inform thousands of studies on a variety of health conditions. This creates more opportunities to 1) know the risk factors for certain diseases; 2) figure out which treatments work best for people of different backgrounds; 3) connect people with the right clinical studies for their needs; and 4) learn how technologies can help us take steps to be healthier. Researchers will use the data to learn how biology, lifestyle and environment affect health, which will help them find ways to treat and prevent disease.⁸

FDA’s Next Generation Sequencing Tests and precisionFDA

FDA says the goal of precision medicine is to match the right treatments at the right dosages for individual patients at the right time. Precision medicine is generally comprised of two elements: One is the drug, biologic or other therapeutic intervention and the second is the diagnostic test. However, FDA says precision medicine will only be as good as the tests that guide diagnosis and treatment. The challenge of precision medicine is to identify the mechanistic basis for adverse events such as why the body reacts negatively to a treatment (such as breaking out in a rash) and differences in efficacy (why a drug works better in some patients than others).⁹

The agency’s role in advancing precision medicine is to ensure the accuracy of Next Generation Sequencing (NGS) tests so patients and clinicians receive accurate and clinically meaningful test results. And, FDA’s flexible regulatory approach to approving NGS tests will enable innovation in testing and research and speed access to accurate, reliable genetic tests.

NGS tests are capable of rapidly identifying or sequencing large sections of a person’s genome and are important advances in the clinical applications of precision medicine. NGS can scan a person’s DNA to detect genomic variations that might determine whether a person has or is at risk of disease or might help to inform treatment decisions.¹⁰

In 2018, FDA issued two final guidances that recommend approaches to streamline the submission and review of data supporting the clinical and analytical validity of NGS-based tests. The first guidance titled “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics” allows developers to use data from FDA-recognized public databases of genetic variants to help support a test’s clinical validity, and the second titled “Considerations for Design, Development and Analytical Validation of Next Generation Sequencing-Based In Vitro Diagnostics Intended to Aid in the Diagnosis of Suspected Germline Diseases” offers recommendations for designing, developing and validating NGS tests.¹¹

Streamlining FDA’s Regulatory Oversight of NGS Tests¹¹

In addition to approving NGS tests and personalized medicines, in 2015, FDA created “precisionFDA,” a public cloud-based portal for community research and development that allows users worldwide to share data and tools to test, pilot and validate existing and new bioinformatics approaches to NGS processing.

precisionFDA helps to drive critical precision medicine initiatives. It offers a variety of foundational capabilities, according to James McKinney, an FDA press officer, which include reference data, analysis apps and workflows; public and private workspaces; a community discussion forum; the Global Substance Registration System; Common Data Model for Harmonization; and public challenges and app-a-thons. “Since the launch of FDA’s Data Modernization Action Plan, precisionFDA capabilities have grown to provide data orchestration, transformation, cleansing, analytics and business intelligence in support of regulatory operations and for experiential training of FDA data scientists and data collaborators. precisionFDA now aligns with DMAP [Data Modernization Action Plan] goals to support a robust internal talent network, standardize data practices and use of artificial intelligence to improve efficiency and user experience.”

Looking Forward

Although the term precision medicine is relatively new, NIH says the concept has been a part of healthcare for many years, and while examples [of precision medicine] can be found in several areas of medicine, its role in day-to-day healthcare is relatively limited. Researchers hope this approach will expand to many areas of health and healthcare in the coming years.

Precision medicine holds promise for improving many aspects of health and healthcare. Some of these benefits will be apparent soon as the All of Us research program continues and new tools and approaches for managing data are developed. However, other benefits will result from long-term research in precision medicine and may not be realized for years.¹