ALS community stories

Early Referrals in Amyotrophic Lateral Sclerosis: Embracing a New Paradigm in Time to Diagnosis

Dr. Colleen O’Connell discusses the recent paradigm shifts in time to diagnosis of ALS, including the ReferALS Early Referral Tool.

For people living with Amyotrophic Lateral Sclerosis (ALS), a rare, neurological disease that attacks the nerve cells that control the muscles of the body, leading to progressive weakness and disability,ⁱ early diagnosis is crucial. Initial symptoms of ALS can be subtle and may mimic more common diseases, making ALS difficult to diagnose. Historically, with few treatment options, specialists would hold off from introducing an ALS diagnosis until there was greater diagnostic certainty, which often occurred after significant disease progression.  As a result, in Canada it may take up to two years for some people to receive a formal ALS diagnosis,ⁱⁱ delaying treatment and care that is vital to slowing disease progression and improving quality of life. However, a radical change in the management of ALS is underway, and it prioritizes early intervention, open communication and shared decision making.

Shifting the Paradigm: From Uncertainty to Empowerment

"There's been such a paradigm shift in the management of ALS over the past 10 years," says Dr. Colleen O’Connell, Medical Director and Research Chief, Stan Cassidy Centre for Rehabilitation in Fredericton, New Brunswick.

Increasingly, we recognize that delays in diagnosis are associated with more bad than good. This shift signifies a move away from the past top-heavy model of care towards one of transparency, timeliness, more patient-focused delivery of information, shared decision-making and embracing patient empowerment.

In 2023, the ALS Society of Canada (ALS Canada), in collaboration with the Canadian ALS Research Network (CALS), launched the ReferALS Early Referral Tool (ReferALS program) to help non-ALS physicians recognize and understand the signs and symptoms of ALS, as well as how and when to refer suspected ALS cases to a specialty CALS clinic. The program includes the ReferALS tool, which provides key disease features and indicators on when, how, and where to refer patients presenting with symptoms suggestive of ALS and an information sheet that can be given to patients and families to prepare them for the visit. The initiative aims to reduce time to diagnosis of ALS across Canada, facilitate clinic navigation, while expediting important access to multidisciplinary care - known to slow disease progression and improve quality of life - and create better opportunities for patients to participate in clinical trials.

In addition to programs like ReferALS, new technologies like augmented intelligence (AI) are also being used to analyze de-identified electronic medical records (EMRs). In various therapeutic areas, including ALS, these strategies can help identify individuals for which follow-up investigations should be considered, or referral to a specialty centre may be clinically appropriate. As an example, the Process for Progress in ALS: An EMR-based practice enhancement initiative utilizes a clinical algorithm, MNd-5, and is intended to support healthcare professionals (HCPs) in making timely decisions regarding further testing or referral to a specialist.

The Power of Early Referrals: A Proactive Approach to ALS Management

By embracing early referrals and utilizing ReferALS, HCPs can play a pivotal role in reshaping the ALS journey for their patients, by providing them with time – time that allows them the power to be able to control what happens next. Dr. O'Connell has witnessed first-hand how ReferALS can make a tangible difference for patients, allowing her to engage with them at a point where a wider range of care and support options are still available. This then allows a patient some choice, fostering a sense of control, which is so valuable when one is diagnosed with a disease like ALS.

"Within my own practice, I’ve noticed that more patients are being referred when the referring physician thinks it could be ALS but is not entirely sure. But they're still starting the referral process, which is incredibly important," observes Dr. O'Connell.

This early engagement allows for timely education and support, ensuring patients understand the implications of an ALS diagnosis, available treatment options and multidisciplinary care opportunities that have been shown to slow disease progression and improve patient outcomes.

Knowing that some HCPs may hesitate to refer patients before a confirmed ALS diagnosis, Dr. O'Connell emphasizes the importance of early intervention, explaining, "if your patient is presenting with possible signs and symptoms of ALS, use the ReferALS to help yourself and your patient navigate the next steps in their diagnosis. And remember, don’t delay, refer ALS right away; because it is better to refer and be wrong than to delay and put the patient at risk of losing valuable time to proactively manage their disease."

To access the ReferALS tool, visit https://als.ca/wp-content/uploads/2024/01/ReferALS-Early-Referral-Tool.pdf

For more information on Process for Progress in ALS: An EMR-based practice enhancement initiative, visit: https://www.alsprogress.ca.