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Rare disease treatment has truly come a long way since I started my career as a medical geneticist over 30 years ago. My background has included a mix of caring for patients directly (primarily children) and working in roles to help ensure that these individuals had access to the right therapies, which can be equally gratifying.

For example, during my tenure at United Healthcare, I worked with a team that helped to monitor and streamline prior authorizations for vital new therapies like those used to treat spinal muscular atrophy (SMA).

SMA is a motor neuron disease that causes muscle wasting and weakness, and until recently, no meaningful treatments were available to manage it. A child born with severe SMA in 2017 would be unlikely to live until their second birthday. As you can imagine, a diagnosis like this would have devastating and lasting consequences across entire families. 

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Streamlining and speeding access to new therapies

By May of 2019, powerful new gene therapies were introduced to treat infantile SMA, which were among the first therapies of their kind available for children with severe degenerative neuromuscular diseases.

When children are facing rapid and progressive loss of motor function, each day that passes without treatment counts. So, it was especially important for my team to speed and streamline the prior authorizations process. To do so, we developed a new tool that rapidly alerted us when there was a need to collaborate with physician practices to expedite authorization. This let us partner with clinicians to ensure complete documentation and collaboration across the healthcare system and facilitate rapid treatment and best-in-class care.

This approach allowed us to connect patients with these therapies extremely quickly and, in some cases, even getting these drugs approved in just hours.

This story illustrates the power of making connections—between patients, caregivers, providers and insurers—to speed access to rare disease treatment, which has become my guiding philosophy. That’s also why I’m particularly excited about my new role as Chief Medical Officer at Optum Frontier Therapies, because this one-of-a-kind rare disease pharmacy is all about forging powerful connections.

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Advances in human genome research accelerate innovation

The role of the rare disease pharmacy has become vital thanks to the rapid emergence of therapies across many different disease states, like those noted earlier. Many of these incredible new treatments have been made possible by advances in sequencing of the human genome.

For example, with cystic fibrosis, genomics research has led to the identification of specific mutations tied to abnormal cell functions, which is enabling the development of targeted therapies. This is creating truly personalized medicine and the same is happening in many other areas of the rare disease space as well.

The development of new rare disease therapies is also a direct result of the blood, sweat and tears of patients and their families. These families work tirelessly on advocacy efforts, participate in clinical trials and even support research funding—all of which encourage scientists and manufacturers to develop these life-changing drugs.

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Guiding patients along a complex treatment journey

The availability of new therapies has also created a need to help patients manage different aspects of a complex treatment journey. These aspects include:

  • Recognizing symptoms
  • Obtaining a diagnosis
  • Finding the right specialists and accessing treatment
  • Dealing with the costs of these medications and potential side effects

Given the very nature of rare diseases, managing these conditions can be an isolating and lonely experience for patients and caregivers. That’s where Optum Frontier Therapies comes in, as our team is dedicated to making connections in order to partner with families to ensure that patients get the full benefits of rare disease treatment.

This starts with empowering patients and families by showing them how to leverage all the resources surrounding them, which will vary greatly based on each unique condition. By forging connections with the following individuals and groups, Optum Frontier Therapies ensures that patients and families don’t have to “go it alone”:

  • The rare disease community: Patients want support from others who have firsthand experience in what they’re going through. Many rare diseases have active advocacy and community organizations where parents and patients can develop these powerful connections.
    • Leaders at Optum Frontier Therapies also meet with advocacy groups from the disease communities we serve. We have incorporated the insights gained from these organizations and their members into our model, ensuring that we’re meeting their unique needs. Optum Frontier Therapies is committed to continuing to work with the rare disease community—patients, families, and advocacy groups—to ensure positive outcomes and a simplified experience at all touchpoints.
  • Primary care physicians and specialists: Optum Frontier Therapies partners with physicians to ensure their patients get the best possible care and achieve the best possible outcomes, with the goal of a faster, easier path to these new therapies. We maintain comprehensive medication therapy management and medication reconciliation programs that complement the efforts of physicians to support our patients who may be on a variety of drugs to treat the disease and its symptoms.
    • Most importantly, we are constantly asking ourselves what we can do to better connect all members of the care team for the benefit of our patients.
  • Pharmaceutical manufacturers: We work closely with the drug and gene therapy manufacturers creating these life-altering therapies. This high-touch collaboration gives them confidence that we are doing all we can to help patients access, afford and gain the full benefit of these treatments. We also track all clinical outcomes (including post-treatment labs, ER/unplanned hospitalization avoidance and other quality of life measurements), as well as other critical metrics such as time to first fill and prior authorization approval rates.

  • Insurance companies and financial assistance grants/programs: Given the expense of new therapies, it is more important than ever that families have access to financial help in the form of grants and manufacturer programs as well as all sources of drug coverage. Optum Frontier Therapies has team members dedicated to helping patients start-and stay on therapy.

  • Caregivers and families: Rare diseases disproportionately affect children, causing a deep impact on caregivers and family members who play important roles in treatment and support. With this responsibility can come significant emotional burdens including stress, work/life balance challenges and even mental health issues, all of which are an important as part of the treatment journey.

  • Other healthcare teams and resources: Many rare diseases impact multiple body systems, creating a need for diverse care teams. These can include physical, occupational or speech therapists, or durable medical equipment providers, among others. At Optum Frontier Therapies, we work with each patient to better understand what specific resources are needed in their own individualized journey.
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Being part of a revolution in rare disease treatment

The development of new rare disease therapies has now transformed the rare disease patient journey from one that was largely diagnostic toward one focused on meaningful treatment. This in turn has created the need for a different type of pharmacy model—one that forges connections across the entire continuum of care on behalf of patients. I am honored and privileged to be part of this approach, and I am looking forward to seeing what the future holds as new innovations continue to reshape the rare disease space. Most importantly, I am excited to witness firsthand how these therapies positively change the trajectory of our patient’s lives and ease the burdens that come with these conditions.


About the author


Dr. Nancy Mendelsohn has deep expertise as a board-certified clinical geneticist for 28 years, caring for children and adults with rare disorders. She joined UnitedHealth Group in 2018 and served as the chief medical officer of the Complex Health Solutions team, helping to develop comprehensive care models for complex patients and families. She also serves as the senior vice president, medical affairs for genetics and rare diseases at UnitedHealth Group. To read her full bio, click here.




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Tag: Rare disease, Articles and blogs, Articles, Rare disease

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