CEO
InformedDNA
Genomics have enabled a series of transformative scientific advances in precision medicine over the last decade, most prominently in cancer care. Examples include the first approved cancer vaccine for the treatment of prostate cancer and progress on several personalized cancer vaccines with the potential to save thousands of lives in some of the most difficult-to-treat cancer types.
Despite this progress, we are only scratching the surface of potential gains in health span that precision health can drive, both for individuals and society. With respect to genetics and genomics, the under-utilization of germline testing in well-validated use cases (e.g., hereditary cancer assessments, carrier screening, pharmacogenomics) has become as big of an issue as the overutilization of less-validated testing. This leaves us with a conundrum—how can we selectively accelerate the appropriate adoption of genomics in clinical practice?
Precision health recognizes that genomics can enrich preventive care and facilitate the development and use of targeted treatments. Whereas precision medicine has been strongly associated with therapeutics, precision health aims to leverage genetics and genomics for screening, prevention, and early diagnosis as well.
There are several steps we must take to catalyze a shift to more widespread, appropriate, and validated use of precision health across the medical spectrum:
- Increasing the adoption of guideline-supported and well-validated use of germline genetic testing. This is an essential part of moving toward a preventative system. Specifically, the use of genetic testing in:
- hereditary cancer risk assessment
- carrier screening in family planning and pregnancy
- proactive screening for familial hypercholesterolemia and other cardiac conditions
Increasing the use of guideline-backed simultaneous tumor and germline genomic testing in supported cancer types. This is an essential part of improving cancer care and outcomes through personalization.
Increasing the use of pharmacogenomic testing consistent with guidelines and approved drug labeling, thereby reducing trial and error prescription in mental health, oncology, neurodegenerative conditions such as Alzheimer’s, and potentially, GLP-1 drugs in prediabetes and obesity.
Precision health benefits everyone
Consistent with population health management principles, precision health allows us to proactively identify the people most at risk for complex and costly diseases, including certain cancers. It pushes us to effectively stratify patient populations, and helps ensure that individuals receive timely screenings aligned with their unique risks.
By advancing the concept of precision health and utilizing the robust datasets available, we can increase our ability to assess genomic profiles alongside intrinsic, environmental, and societal factors. This will ensure that patients receive the longitudinal monitoring and screenings necessary to maintain their health. The result of this work will be more equitable, high-value healthcare at tremendous scale.
Payors can also more easily stratify and mitigate risks to improve care quality at lower costs. Today, too many payors (as well as providers and patients) spend money on tests and procedures that do not optimize outcomes. By implementing precision health, payors can increase the adoption of appropriate but often underutilized genetic tests (e.g., germline tests) and genetic counseling. This, in turn, helps ensure that at-risk patients and their families are identified earlier and receive targeted screenings, diagnoses, and therapies in a more timely manner. Precision health helps payors optimize screening and treatment dollars by reducing the risk of unnecessary and inappropriate testing, and delayed therapy. It also increases the chances of patients being swiftly directed to the most appropriate evidence-based treatment path.
For providers, precision health enables streamlined access to genomics services and expertise, making it easier to deliver personalized, evidence-based care. Few providers have the time or expertise to confidently order the right genetic tests for the right patients at the right time. Precision health allows providers to screen for and diagnose conditions earlier, setting patients on the best treatment path sooner. It contributes to earlier diagnoses—which can reduce the likelihood of advanced disease—by effectively guiding screenings, diagnoses, and therapies.
For patients and their families, precision health promises more appropriate screenings, earlier diagnoses, and faster access to more targeted therapies. This confers the ultimate benefit of improved outcomes at scale, allowing patients to take a proactive approach to their health and wellness. Consequently, compassionate, personalized care becomes accessible to more patients within their own communities.
Obstacles along the way
There are very real obstacles to realizing the full potential of precision health that constrain both payors and providers, and penalize patients:
- Lack of a robust health infrastructure. Healthcare quality differs demonstrably from region to region and person to person. For example, the average diagnosis for certain cancers is almost a full stage later in certain states in the U.S.
- Managed care frameworks. The current frameworks for health technology assessments do not lend themselves well to diagnostics. Payors are overwhelmed with the sheer volume of new genetic tests and associated therapies. They have limited capacity to take on additional screenings and diagnostics.
- Lack of time and expertise. The time and genomics expertise required for precision health are often in short supply and/or inaccessible for payors and community providers.
- Implementation knowledge. Perhaps most importantly, we as an industry still lack a thoughtful approach to implementing precision health.
Physicians and payors cannot “boil the ocean” to rectify these inequities by ramping up the utilization of services across all the populations they treat and manage. We need precision health-oriented tools and capabilities that can level the playing field by enabling smarter and easier stratification, thereby identifying the subpopulations of patients most in need of modified screening plans for cancers and other complex diseases. These tools can help providers and health plans work within the limited bounds of their resources, and thereby scale their preventive screening efforts and optimize outcomes accordingly.
Artificial intelligence (AI) is not the answer on its own here, but it can play a critical role. AI-enabled tools can significantly supplement human interpretation and increase the availability of precision health. At the same time, we require an understanding, empathy, and integrative path forward that skilled clinicians such as genetic counselors and pharmacists can provide. Person-to-person communication and conversations will remain crucial to the success of precision health in oncology, pharmacogenomics, maternity care, and beyond.
An opportunity for more equitable, high-value care at scale
The use of genomics as a key element in proactive care and population health management is a transformative concept with enormous implications for creating a more equitable and proactive health care system. Smarter and easier population stratification can reveal subpopulations of patients who are most in need of modified screening plans that cater to their unique needs. This allows payors and providers to prioritize screening, counseling, and care-planning for the most at-risk patients and make those options widely available through multiple modalities. People who need proactive intervention will thus receive it regardless of geographic location or socioeconomic background.
To fully reap these benefits, key stakeholders need to think through the possibilities now, especially as they have the potential to significantly impact ongoing health equity conversations. Faced with limited resources, precision health can give payors and providers the tools they need to efficiently and effectively focus preventive screening efforts and optimize outcomes. This will, in turn, enable more equitable, high-value care at scale.
Dr. Surya Singh is the CEO of InformedDNA, a company revolutionizing the application of genomic insights. With more than 20 years of experience in genomics, specialty pharmacy and cell and gene therapies, Dr. Singh brings a unique perspective to how healthcare payors and providers can fully leverage the power of genomics and genetic counseling. Before taking the helm at InformedDNA, he co-founded gWell Health, a digital health, genomics, and wellness company. Prior to that, he served in executive leadership roles for CVS Health and multiple venture and private equity-backed companies, as well as serving as a healthcare strategy consultant at McKinsey & Company. In addition to being InformedDNA’s CEO, Dr. Singh is a senior advisor to the nonprofit Institute for Clinical and Economic Review (ICER). He holds an MD from the Johns Hopkins University School of Medicine, is board-certified in internal medicine, previously practiced as an attending physician at the Brigham and Women’s Hospital and has been a member of the teaching faculty at Harvard Medical School for 20 years.
