Precision medicine, where therapy effectiveness is tied to genomic insights, is profoundly reshaping healthcare. While these advances show increasing evidence of therapeutic benefit, they come with a steep price tag. And this is only the beginning. With thousands of clinical trials for targeted therapies, gene-based therapies, and gene editing in various stages, payers need to prepare for a deluge of new drugs and therapeutics that cost hundreds of thousands of dollars or more.
Within this space, orphan drugs and other therapeutics approved using alternate FDA pathways have become particularly difficult for payers and their vendors to manage effectively. Over the past few years we have seen the emergence of novel therapeutics, such as Spinraza, Exondys 51, and Luxturna revolutionize care for certain individuals with rare disease. But, we have also seen patients, providers, and insurers struggle to understand how these novel therapeutics work, who they will benefit, and how we pay for them.
Recently approved drugs, such as Zolgensma and Trikafta, continue to set the stage for what is rapidly becoming the new normal. While rare diseases are, by definition, individually rare, when considered collectively they impact a substantial portion of the U.S. population. Within the next decade, more than 500,000 individuals are expected to be treated with a gene therapy product.
For example Crysvita, a treatment for X-linked hypophosphatemia, costs ~$200,000 per year for a condition that affects one in 3,000 children and one in 12,000 adults. And, the latest treatment for Fabry disease, Galafold (~$300,000 per year), only has the potential to be effective in half of the 3,000 Fabry patients based on complex genomic eligibility criteria. Recently approved Trikafta will be relevant to 90% of the cystic fibrosis population and will cost more than $300,000 per year.
With these trends, it’s not surprising that orphan drug spending is expected to top $40 billion in the U.S. by 2020 and $150 billion worldwide. However, adverse coverage determinations for these therapies are often fraught with clinical and economic risks for health plans, as well as legal and reputational risks for employers. At least half of these therapies require complex genomic test selection and interpretation by genetics specialists to establish medical necessity and guide therapeutic decision making.
In addition to the challenges associated with cost, the FDA’s Fast Track and other alternate approval pathways bring these drugs to market based on limited evidence of true therapeutic benefit. FDA labeling can be misleading and suggest broader testing or prescribing than the evidence supports. This all adds up to payers having to take on a de facto regulatory role translating the broad and sometimes vague approval language into transparent, actionable and evidence-based medical policies. That’s why InformedDNA, as the leading genetic services company, is bridging our Genetic Benefits Management™ services to provide Precision Medicine Management™ services.
In reviewing more than 12,000 genetic test requests monthly, we have a unique perspective on the need for genetics expertise in helping manage therapies associated with complex genetic testing. Payers need help ensuring the appropriate use of these costly drugs. From policies and enforcement strategies to value-based contracting and patient education – effectively managing these drugs requires a new paradigm where genetics specialists play a key role.
With the largest team of genetics experts serving payers, providers and patients alike, InformedDNA is uniquely qualified to rise above the PBM status quo and bring scarce genomic expertise to bear on complex therapeutic medical necessity decisions. Our team of more than 80 full-time genetics specialists have deep expertise across all genetic subspecialties – oncology, cardiology, pediatrics, neurology, reproductive medicine, ophthalmology and thousands of rare diseases.
Starting with expertly crafted medical policies and, when appropriate, guidelines for evidence-based contracting (e.g. how do you define a successful health outcome, how strong is the evidence to support therapeutic benefit, which patients populations were included/excluded). We then define the genetic testing selection and interpretation strategy that, combined with other biomarkers and phenotype information, allow our experts to make an evidence-based coverage recommendation.
Once the correct coverage decision is made, our team goes a step further by engaging its specialty-trained genetic counselors to meet with the patient/family to explain the decision in a respectful and accessible way. During this encounter, we are able to leverage our genetics expertise to explain not only why the therapeutic was denied but help families find clinical trials and other alternative support options. This high-touch approach goes a long way toward deescalating a volatile denial situation and avoiding unnecessary appeals. Guiding to the right medical decision is good healthcare; mitigating reputational and legal risks around the decision is good business.
As independent subject matter experts, InformedDNA is able to structure its advisory services to support PBMs, payers or even work directly with employers. In the current era of high-dollar, low-volume orphan drug prescribing, we suggest the compensation model include a program management fee and case rates for each encounter. As the volume increases over time, it may become advantageous to migrate to a PMPM payment model.