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Time for your annual physical—and genetic screening test?

May 30, 2018

    When you go in for your annual checkup, your physician will likely screen your blood pressure, heart rate, viral status, and … your genes? Until now, genetic screening for indicators of disease has been limited to only patients or demographic groups at high risk of genetic disease. But with more research linking other common diseases to genetic indicators and growing public interest in self-screening, introducing genetic screening in routine preventive care is gaining interest.

    For example, providers such as Geisinger (an integrated provider and payer network) are betting big that including routine genetic screening will pay off down the road through improved outcomes and lower long-term costs. Employers, faced with rising prescription drug costs, are looking to providers such as Inova Health System to provide genetic testing to their employees to help combat wasteful, ineffective, or dangerous medication prescriptions.

    How should your organization prepare for the increasingly widespread availability of genetic testing? Here's what you need to know:

    Weighing the risks

    While increased public awareness, falling costs, and technology advances have encouraged more to be screened, there have also been concerns around how providers and patients should interpret results. As The Atlantic recently reported, genetic test results can often be confusing for both patients and providers, and that uncertainty can be a source of long-term stress to patients. After Angelina Jolie’s 2013 op-ed, guidelines settled on genetic screening for asymptomatic patients only if their family history put them at substantial risk of carrying the gene.

    An evolution of interest and application

    Over the past few years, a number of developments have renewed enthusiasm for more widespread genetic testing, including:

    1. Costs of genetic testing have decreased. In 2013, genome sequencing cost upwards of $1,000—but Geisinger is estimating costs of just $300 to $500 per patient in its pilot program, and gene-sequencer provider Illumina’s goal is to provide whole-genome testing for just $100;
    2. Tests are more accurate and specific. As sequencers focus on the "exome"—the set of genes that actually cause disease and are actionable from a care standpoint—tests are increasingly oriented around actionable results.
    3. Providers are more accountable for total costs. More systems are involved in value-based or risk-based contracts, increasing their financial stakes in improving long-term costs and patient outcomes.

    The bottom line

    So, could this be the future for population health? Geisinger is an early mover—we don't expect every hospital or physician network to start routine genetic testing tomorrow. However, Geisinger's seen promising results so far, and leaders estimate widespread screening could uncover relevant information in 10% to 15% of their patients.

    Whether you plan to invest in genetic screening or not, you should begin by educating primary care physicians on how to appropriately refer patients for genetic testing and interpret results. With this foundation in place, systems will be better equipped to maximize the value of routine genetic testing once it becomes more widespread.


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