Can Telemedicine Help You Get a Proper Diagnosis for a Rare Disease?

It goes without saying that it’s impossible for doctors to treat medical conditions if they cannot determine what is wrong. Most patients receive an accurate diagnosis in a timely manner, likely after some testing and perhaps a visit or two with specialists. However, for a person with a rare disease, the road to an accurate diagnosis is anything but smooth. In fact, a survey of patients in the UK and in the US found the average time to correctly diagnose a rare disease patient ranged from 5.6 – 7.6 years. Moreover, one study found that 44% of rare disease patients were misdiagnosed at first – and 75% of these misdiagnosed patients received inappropriate and ineffective treatment. Can telemedicine help you find a proper diagnosis for a rare disease?

What exactly is a rare disease?

In the US, a rare disease is one that affects fewer than 200,000 Americans at any given time, although some impact far fewer people.  The European Organization for Rare Diseases classifies diseases with a prevalence of less than 0.05% as rare diseases. According to the NIH’s National Human Genome Research Institute, there are over 6,800 rare diseases.

Unfortunately, few rare diseases are preventable or curable, and most are chronic, degenerative, and life-threatening.

How many people have rare diseases?

Experts estimate that worldwide, between 263–446 million people have a rare disease at any given point in time. In the US, an estimated 25 – 30 million patients have a rare disease.

The impact of a missed or delayed diagnosis.

For patients with rare diseases, delayed or incorrect diagnoses are common and often lead to medical, physical and mental burdens for patients. When doctors fail to accurately diagnose a patient, the patient’s condition worsens as time progresses without proper treatments.

As patients go from doctor to doctor, undergoing an increasing array of tests, the burden on patients and families grows. The seemingly never-ending “referral loop” of doctor appointments and tests causes frustration, stress, anxiety, self-doubt and emotional trauma for the patient and the family.

Additionally, there is often a financial burden. All of this while the patient’s condition worsens.

Why is it so hard to get a diagnosis for a rare disease?

Unsurprisingly, many doctors lack the knowledge of and experience with rare diseases – a likely cause of late and incorrect diagnoses of patients with rare diseases. Simply put, with no knowledge of a particular rare disease, doctors cannot consider it as a possible diagnosis.

Why don’t doctors know more about rare diseases?

Medical schools train students to associate certain signs and symptoms with specific diseases. Since teaching time and resources are limited, medical schools prioritize the signs and symptoms for common diseases. Although a logical approach, it leaves doctors without a familiarity with rare diseases.

Geneticists are better prepared to diagnose rare diseases.

Although almost 72% of rare diseases have genetic origins, patients face significant barriers to appropriate genetic counseling. In fact, experts believe the shortage of clinical geneticists is a key factor contributing to initial misdiagnoses.

Telehealth to the rescue!

Given the shortage of clinical geneticists, it’s no surprise that it can be hard for patients to see these specialists. Clinical geneticists typically work in urban areas. For those living far from a city, any associated travel can pose time and financial burdens.

Telehealth can make it easier for patients to connect with clinical geneticists, thereby making it easier for patients to receive appropriate, more timely, diagnoses.

The COVID-19 pandemic led doctors to increasingly use telehealth tools to safely see patients. Experts believe the new, broad acceptance of telehealth can improve access to genetic consultations using telehealth – referred to as telegenetics.

This could significantly reduce the “referral loop” and the associated stress, frustration and expense of countless doctor appointments and testing. And of course, it can accelerate the gap between developing symptoms and receiving proper treatments.

A pilot program between Children’s National Hospital and Microsoft uses telegenetic consultations for patients searching for a diagnosis, potentially for a rare disease.

Since its start in 2019, the average wait to see a clinical geneticist decreased from 3-4 months to just 6-8 days. Certainly, telegenetics can connect patients to rare disease specialists more quickly, reducing the time for appropriate diagnoses.

But it also enables the geneticists to more easily partner with patients’ local doctors to deliver needed care in a timely manner.

This innovative program uses virtual tools (e.g. facial recognition), video appointments, and a triage app system to provide remote genetic assessments and counseling to patients and their primary care doctors. Another benefit? This pilot program addresses potential language barriers by using technology for real-time translations.

Certainly, access to these specialists improves significantly with telegenetics. Additionally, researchers identified several other advantages.

For instance, the triage app fosters communication and a partnership between primary care doctors and geneticists. As a result, patients can receive needed testing before their first telegenetics appointment; after diagnosis, patients can receive coordinated care from their primary care doctors.

How can you get a telegenetics appointment?

You can start your search for a clinical geneticist by asking your doctor for a referral. However, if your doctor cannot provide a recommendation, visit the sites below to find a geneticist.

The National Society of Genetic Counselors has a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Additionally, you can click on the “Via Telehealth” button to find geneticists who provide telegenetic appointments.

The American College of Medical Genetics has a searchable Genetics Clinics Database. If you want a genetics appointment via telemedicine, their directory lists whether a clinic offers telemedicine services. Additionally, you can select “Show clinics with no physical locations” to see clinics that only offer services via telemedicine.

State laws can narrow access to out-of-state doctors.

Each state has their own laws regarding patient access to doctors licensed in other states via telemedicine. Many states do not allow their residents to have telemedicine appointments with doctors licensed in other states. Importantly, if an out-of-state doctor is also licensed in your state, a telemedicine appointment should not be a problem.

Rare disease information and support.

Visit the Genetic and Rare Diseases (GARD) Information Center for reliable, up-to-date information in English and Spanish. Patients and families can contact a GARD specialist for further information.

Additionally, you can find information and support from the Undiagnosed Diseases Network (UDN) and the National Organization for Rare Diseases.

Learn more…

Read my blog posts to learn more about related topics:

• The Pros and Cons of Telemedicine.
• Help for Hard to Diagnose Health Issues.
• 10 Steps to Reduce Your Risk of Diagnostic Error.
• Should you Speak Up if You Think Your Doctor is Wrong? YES!
• Personal Stories of Diagnostic Errors.