[InformedRx™- Eliminating Risk: Why Managing Genetic-Driven Therapies for Rare Diseases Is Critical]

More than 70% of new gene therapies in development target rare diseases, half of which affect children. But as the growth of genetic therapies designed to treat these rare conditions continues to climb, the need for expert guidance around who should receive these therapies has intensified.

Decisions around genetic-driven therapies leave little margin for error. They are very high-profile, and they are often viewed as “miracle cures” for patients with incurable genetic-based diseases. Additionally, health plans have received negative press for denying these medications, even in cases where the patient would not have benefited. What consumers struggle to understand is that these “miracle drugs” only work if the patient has the right molecular basis to respond to treatment.

High Stakes for Sensitive Treatment Decisions

Consider the example of Luxturna, an orphan drug designed to treat a rare, inherited degenerative eye disease that leads to blindness. It’s a treatment that is highly effective, but also costly. At $450,000 per eye, Luxturna is one of the most expensive drugs on the market, and most patients cannot afford it without health plan support. However, Luxturna only works in people with a specific genetic mutation in the RPE65 gene that prevents them from producing a protein that enables the eye to process light.

Because these cases often involve children, conversations between health plans and their members (patients) can become emotionally charged when health plans request additional information before approving treatment. The direct involvement of someone with genetics expertise is key to supporting informed communications that are delivered with compassion and respect and that achieve the right outcome for the patient.

Drugs designed to treat Duchenne muscular dystrophy are another example. Duchenne muscular dystrophy occurs in 1 in 3,300 males and is rare in females. One treatment, Exondys 51, costs about $750,000 per year for young boys and even more for teenagers because the price is based on weight. However, it only targets 13 percent of boys who suffer from DMD: those with a confirmed genetic mutation that is amenable to exon 51 skipping. Another recently approved treatment is designed for boys who have a mutation amenable to exon 45 skipping, and there are now two therapies for exon 53 skipping, both with price tags over $700K per year. These scenarios require genetic expertise to make the right determinations and skillfully convey these decisions to families.

Approval of a treatment plan that isn’t guaranteed to be medically beneficial could cause an adverse reaction. It also gives patients false hope while raising costs for everyone, given that genetic-driven drug therapies cost as much as $1 million per year per patient. With so much at stake, both health plans and providers are under extreme pressure to get these decisions right.

Steps Toward a Highly Informed Approach

In the past year, we’ve seen federal commitment toward understanding and meeting the unique needs of people living with a rare disease.

In 2020, the FDA created the Division of Rare Diseases and Medical Genetics, the only division within the Office of New Drugs that is focused on rare diseases. Its purpose is to enhance communication and consistency around rare diseases—especially critical given the pace of gene therapy development, which rose more than 150% between 2016 and 2020.

Increasing access to and information about care for those with rare diseases are important steps in the right direction. However, on-the-ground support from genetics experts—for providers, patients, and health plans—remains crucial. Here’s why:

  • Medical necessity review for genetic-driven therapies often requires extensive genetics knowledge and experience in interpreting molecular genetic test results. 
  • Test reports are not consistent between laboratories and may not provide all the information needed to render a determination. 
  • Medical directors and pharmacists typically lack this depth of genetics expertise and are naturally uncomfortable making decisions about these drugs.
  • Physicians also are uncomfortable navigating these discussions without support from a genetics expert. 
  • The patient experience depends on getting the right answers to questions regarding potentially life-altering experiences in a timely fashion and in terms that the patient can understand.

We’ve reached an inflection point in healthcare where these decisions require more than prior authorization review from health plans, which generally don’t have the in-house genetics expertise to support such decision-making and discussions with providers and patients. In our experience, there are four keys to creating a highly informed, highly compassionate approach to genetic-driven therapy decision-making and communication: 

No. 1: More robust prior authorization review, paired with genetics expertise throughout the prior authorization process. Robust prior authorization review of genetic-driven therapies eliminates excess genetic benefit and care management costs by preventing the authorization of drugs that won’t benefit the patient. By drawing on the expertise of genetics experts in orphan and other rare disease drug determinations, health plans can ensure that prior authorization is effective in identifying all cases where genetic-driven therapy is not medically necessary.

No. 2: Expert case review with board-certified genetic analysts who can assess individual cases and make a recommendation regarding genetic eligibility. This review should include an assessment of relevant records and laboratory test reports as well as outreach to ordering providers and laboratories as needed. Robust documentation puts medical directors’ minds at ease by giving them access to the cited background, rationale, and references supporting the recommendation. Outsourcing this review to experienced genetics experts also is more cost-effective than an in-house review, enabling medical directors to devote more time to other clinical areas of concern for the plan.

No. 3: A genetics helpline. Such a hotline provides support for medical directors reviewing genetic-driven therapies. It also pairs patients with genetic counselors who can answer patients’ questions fully with skill and ease, giving patients a trusted resource for navigating the decision-making process.

No. 4: Genetic education for patients and ordering physicians after a denial due to genetic ineligibility. The opportunity for patients to speak directly with a trained expert to understand why a particular treatment won’t benefit them mitigates the risk of negative press coverage or appeals due to patient and provider misunderstanding. It also provides an important opportunity to partner with physicians in making decisions supported by evidence.

Find Expert Genetics Support 

While the number of patients for whom orphan drug and other rare disease treatments are a viable option is still relatively small, the growth in genetic-driven therapies and the sensitivities around these clinical decisions necessitate a specialized approach. Now is the time for health plans to infuse genetics expertise into utilization management of genetic-driven drugs and biologics. 

At InformedDNA, our concierge solution for health plans, InformedRxTM, combines expert clinical and molecular genetics prior authorization case review, extensive clinical support for plan medical directors, and complimentary patient education sessions with board-certified genetic counselors for denials of high-profile therapies. It’s a patient-centric solution that empowers health plans to mitigate the soaring costs, clinical and molecular complexity, and risks associated with managing genetic-driven therapies.

We leverage the expertise of the largest, most experienced, fully employed staff of lab-independent, board-certified genetics specialists in the U.S. to help ensure that patientshealth planshealth systems and hospitalspharmaceutical companies, and healthcare providers all have access to the highest quality genetics expertise and services.

Have questions about our services or want to chat? Just submit the short form below and we’ll get in touch quickly. Or, send an email to healthplans@informeddna.com or give us a call at 844-846-3763.

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