Researchers are ramping up efforts to better understand the complex trajectories of rare diseases, with evidence mounting around palliative care’s potential to improve outcomes among those patients.
The Center for Innovation & Value Research recently launched the second phase of its Rare Disease Project, an initiative aimed at examining the diverse range of these illnesses and the patients impacted by them. The project is designed to learn more about the innovative, person-centered care models that can help address common challenges that these patients and their caregivers face — including approaches that integrate palliative care services.
A pivotal point of the research for palliative care providers is understanding how their services help support patients — physically, practically and spiritually — as their diseases progress, according to Rick Chapman, chief science officer at the Center for Innovation & Value Research, which is part of the National Health Council.
“We’re essentially starting from scratch every time a new rare disease treatment comes along,” Chapman said. “What we want to do with this project is come up with patient engagement processes and maybe start to identify what some of those outcomes are that are important to patients. Palliative care providers are a little ahead of the game compared to other providers, because by the very nature of these services they really pay attention to patients’ goals of care and whether treatments are going to be concordant with those goals.”
Intersection of rare diseases, palliative support
The rare disease research project is in part intended to streamline processes around patient engagement and earlier identification of these conditions using an evidence-based approach, Chapman stated.
The project’s first phase involved developing a steering committee of stakeholders, payers and rare disease specialist organizations. The committee created recommendations on ways to assess rare disease treatments and their outcomes.
The second phase includes shaping the committee’s recommendations into a framework for cost-setting structures and more standardized, measurable care approaches that authentically examine patient experiences, Chapman indicated.
Though a smaller proportion of patients with serious illnesses, individuals with rare diseases often incur higher care delivery costs and see greater challenges with access compared to others, he said. This is largely due to sparse data available on rare disease treatment options and efficacy rates.
Alongside consideration around patients’ concerns and needs should be acknowledgment of the “parallel journey” that caregivers are on in navigating a rare disease trajectory, Chapman added.
Delayed diagnosis of a rare disease can result in an average of $517,000 avoidable health costs per patient, according to a report from Everylife Foundation for Rare Diseases and the Lewin Group, published in Global Genes. This dollar amount includes hospitalizations, health care visits, diagnostic testing and caregiver expenses.
“What led us to this project was to really raise the bar on how we do value assessment of new treatments that are coming along, and rare diseases raise a lot of issues for researchers,” Chapman told Palliative Care News. “Those issues make it difficult for payers and decision makers to determine how to cover these treatments and what their prices should be, which sometimes causes delays in access. It’s important to pay attention to patients not only where they are now, but also where they’re going to go, especially as a lot of rare diseases become chronic, progressive illnesses.”
Rare diseases impact an estimated 25 million to 30 million Americans, reported the National Institutes of Health. Of the roughly 7,000 rare and neglected diseases that have identified molecular causes, only 500 have approved treatments.
Having a wider base of available research could go a long way in educating and training providers, said Dr. Julie Kaplan, staff physician at Cleveland Clinic’s Department of Medical Genetics and Genomics. Kaplan is also director for Cleveland Clinic’s Center for Rare Diseases.
Ohio-based Cleveland Clinic operates more than 300 locations in Florida, Nevada and in its home state, as well as internationally in Ontario, Canada, Abu Dhabi and London. Founded in 1921, the nonprofit organization provides a range of health services including emergency and hospital-based care, primary adult and pediatric care, genetic-focused care, and home-based and transitional care, among other services.
Individuals with rare diseases often do not have sufficient information about their condition, and lack some of the supportive structures that can help navigate their illness compared to other patients, Kaplan stated.
“By far the most common challenge is just finding providers that are knowledgeable about whatever rare disease that patient has,” Kaplan told Palliative Care News. “A big challenge is finding providers that are specialists in an area, or even comfortable taking care of them. Another challenge is that there’s just not a lot of easily accessible information about rare conditions, and [they] also have limited access to support groups because there’s not a lot of patients with the same condition.”
Having access to palliative care services sooner in a rare disease trajectory could benefit both patients and their families and caregivers, according Kaplan.
Data may be mounting that supports this theory. Caregivers supporting a loved one with a rare disease commonly report difficulties such as anxiety, stress, isolation, depression, financial strain and impaired ability to work, according to research published in the Journal of Palliative Medicine.
Palliative care providers are becoming a larger part of improving outcomes among patients with rare diseases, Kaplan stated. These providers can help address nonmedical needs, symptom management, care coordination, spiritual support and ensuring goal-concordant care delivery.
“Palliative care is typically involved in most of the medically complex patients I see,” she said. “One of the key roles for palliative care [providers] is making sure the family’s wishes are known and discussing goals of care. It’s starting those conversations and making sure the team is coming together to acknowledge those goals and best treat the patient how they want to be treated. Palliative care does a really great job at looking at the patient as a whole and making sure support services are available.”
