Moving Genomics to the Clinic


The promise of precision medicine hinges on our ability to use highly personal data about individuals and populations to prevent, screen, diagnose or treat patients with disease.

Healthcare providers are increasingly using genetic information as a routine part of prenatal, pediatric and cardiovascular care. The use of genetic information is even more common in the areas of rare disease, oncology and pharmacogenomics (looking at how genes affect a person's response to drugs).

Beyond these more specialized disciplines, population screening for actionable hereditary health risks is of interest to many healthcare organizations. The explosion in popularity of direct to consumer genetic testing is allowing many members of the public to learn more about their predisposition to certain health conditions like cancer and heart disease. Patients and the general public want to consider this information in health and healthcare decisions, and researchers, along with innovators in the genetic testing and support services industry, are increasingly advocating for its inclusion in clinical practice.


Many experts and innovators argue that genetic testing should become a routine part of clinical care as a means to identify and treat diseases. It would enable a more proactive approach to identifying risks and establishing management strategies for a population-wide precision medicine experience.

Most healthcare organizations and physicians are not incorporating these tests into routine practice. After an extensive scoping exercise, the Forum’s precision medicine team found that the most significant barrier to moving genetic testing into clinical practice for broader populations is the lack of coverage for genomic testing – i.e., that a physician or healthcare institution will not be reimbursed for the process of ordering and returning the results of a test.

While this is an over simplification of the complexity of the situation, there is general discomfort that the science on which many of today’s genetic and genomic tests are based is still evolving, and thus many physicians and payers are unsure of the utility of genetic testing to drive clinical care decisions in the large, diverse populations they serve.


We plan to explore, design and test incentives to accelerate building the evidence base for clinical efficacy and utility as a way to increase coverage of genetic testing and screening. Increasing the evidence base serves two purposes: to improve physician comfort with the clinical utility of such tests and to demonstrate to payers that tests do elicit action for the populations that they cover. Increasing the incentives for payers to cover genetic tests would allow clinicians and patients to significantly contribute to building the evidence base for the utility of genetic tests in real world settings. This in turn enables population-wide genetic testing that, over time, will drive our ability to personalize the way we treat, mitigate or manage health risks to patient populations. This project will involve several steps:

- Validate key barriers to genetic screening and testing, considering different models of healthcare delivery, cultural and ethical expectations, and stages of healthcare-system development

- Determine which genetic testing use case(s) can be the focus of stakeholder dialogues and activities

- Create original, new analysis of the economic value of genetic testing across four use cases: cancer testing, rare disease testing, population health testing, and carrier testing

- Identify, design and pressure test incentives to address the gaps leading to low or inconsistent levels of coverage


The project will address a foundational element of precision medicine: our ability to effectively deploy genetic screening and testing into routine clinical care. To do so, healthcare providers must be confident that genetic screening tests provide them with value and with actionable results for the populations which they serve. Payers need to know that tests are clinically actionable, and lead to improved outcomes for patients. This project will focus on the value of genetic testing and incentives to generate sufficient proof of the utility genetic testing for healthcare providers and the payer community globally.

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