Skip to main content

According to a recent study, the benefits of using telehealth services for people with rare diseases, such as Batten disease, include convenience, cost savings, improved access, and the ability to consult several suppliers.

But limits persist and will have to be taken into account in order to implement the services. These include improving clinicians’ and organizations’ familiarity with telehealth, insurance coverage, patient information security, and training for telehealth providers. Equipment use and Internet connectivity were also identified as limitations to provider adoption of telehealth services.

Additionally, the effectiveness of telehealth services for in-person care will need to be investigated, with a focus on patient experience, disease outcomes and costs, the researchers noted.

The review study, “Using telehealth to create a clinical model of care for patients with Batten disease and other rare diseases,” was published in Therapeutic advances in rare diseases.

The report, authored by researchers at Nationwide Children’s Hospital, Child Development Center, Ohio, sought to examine the benefits and barriers of telehealth services for patients with rare diseases, describe the components of clinical care that use the services telehealth for Batten patients and to discuss telehealth limitations and possibilities.

recommended reading

The team reviewed the current literature on telehealth service delivery between 2010 and 2021.

Batten disease refers to a group of rare inherited neurological conditions that can cause progressive motor and cognitive decline, vision loss, and seizures.

Its treatment includes symptom management and palliative care by a multidisciplinary team of healthcare providers and, often, rehabilitation treatment programs to help improve and maintain developmental skills, physical health and quality of life. life.

Due to the ongoing COVID-19 pandemic, telehealth services – electronic information and telecommunications technologies to support remote clinical health care – have been critical in providing care, such as assessments, coordinating treatments and services, especially for rare conditions like Batten, the study notes.

The researchers said one of the biggest barriers to accessing clinical care for patients with rare diseases is the lack of interventional clinical trials that enroll them. Of 24,000 trials, 11.5% were rare disease trials.

“Research guides clinical practice; therefore, it is alarming and regrettable that people with rare diseases are underrepresented in clinical research trials,” they wrote.

Other barriers included a lack of local resources, difficulties in getting an accurate diagnosis, a lack of knowledge among providers about the causes and treatment of rare diseases, and stress and isolation for caregivers, they said. declared.

“Local healthcare providers in remote areas likely have not been exposed to, let alone trained in, the diagnosis or treatment of rare diseases,” the researchers said.

The study cited telemedicine as an effective way to deliver care because it was convenient for patients and could help reduce costs spent on emergency visits. Telehealth also allows patients to meet with providers who might be too far away and allows patients with physical limitations or health conditions to meet with a healthcare professional, the study notes.

Telemedicine also enables teams of specialists in different locations to coordinate and deliver care and improves real-time communication between providers. The report notes that 87% of providers listed “continuity of care” as a benefit of video visits. Telehealth services can also speed up diagnosis and treatment, and help prevent infectious diseases from spreading during a pandemic, the researchers said.

However, the study indicated that the burden of integrating telehealth services could be a barrier for clinicians and associated organizations adopting them.

“It can be difficult for organizations to restructure appointments and services offered as standard of care in a telehealth format,” the researchers said. “Integrating telehealth services into a healthcare system can require additional workflows and responsibilities. There may be a need for additional staff with training in specific telehealth skills.

The researchers also noted that telehealth services might not be covered by insurance and highlighted the importance of protecting patient information when using telemedicine platforms.

Still, the researchers said organizations should consider integrating telehealth services into patients’ electronic medical records so that multiple providers can attend appointments and access patient information, scheduling, and appointment information. ‘assurance.

Another consideration is provider training and licensing in different locations, as laws may vary from state to state, which could impact clinical practice, and specialized training would be required to provide telehealth services in different regions, they said.

Another challenge for telemedicine, according to the study, is that people with Batten disease and other rare diseases with unique physical and medical needs would still need routine in-person physical exams, imaging and laboratory work to monitor treatment results and prevent progression.

In Batten disease, children and young adults are usually managed by a multidisciplinary neurology clinic, including medical care, quality of life, family support, and end-of-life care. Regular cognitive assessments are necessary to monitor regression, given the degenerative nature of Batten.

recommended reading
NGN-101 Neurogenic Gene Therapy |  Batten Disease News |  illustration of clinical trial charts

The study notes that services such as developmental monitoring, therapies and medication consultations can be managed partially or entirely through telehealth. Additionally, developmental skills can be assessed using questionnaires and interviews with caregivers, as well as specific cognitive and neuropsychological measures, but other direct medical interventions or laboratory work cannot.

The researchers noted that direct telehealth therapy can be challenging depending on the child’s developmental level or medical complications and that parent-mediated intervention may be an option as parent treatment models have proven effective in increasing a child’s learning.

The report also notes that logistical factors, including equipment and internet/connectivity, need to be considered with telehealth services as their absence, or lack of patient technical expertise, could aggravate health disparities. health care.

The researchers said health systems should consider implementing standardized methods that apply telehealth to deliver services to patients with rare diseases. This means that all healthcare professionals should receive appropriate education and training in telemedicine, introduce telehealth accreditation, provide funding to cover telehealth costs, and rethink clinical care models.

Finally, the researchers said more studies are needed to compare the effectiveness of telehealth services with standard-of-care or specialist services delivered through in-person visits, with outcomes including costs, patient experiences, disease outcomes and feasibility. Emphasis should also be placed on reducing barriers and the practical use of telehealth technologies.

“Telehealth continues to be a promising avenue for delivering effective and efficient clinical services to diverse patient populations, such as those with rare diseases,” the researchers wrote.