Telerare offering virtual genomic consultations in Minnesota
Aim is to help rare disease patients get accurate diagnosis, treatment
Telerare Health is now offering virtual genomic consultations to people in Minnesota, with the aim of helping those with rare genetic disorders get accurate diagnoses and start treatment, according to a company press release.
The genome is a person’s complete set of DNA. Genomics, therefore, is a study of all of an individual’s genes and how they work — and how they interact with the person’s environment. In rare diseases, such as AADC deficiency, investigating a person’s genome can aid in getting an accurate diagnosis.
According to the company, these consults can be conducted virtually and can often be scheduled quickly, sometimes within less than a week. The consultations can be paid in cash or may be covered by some insurance providers, per Telerare.
“Telerare Health aims to be the premier provider of virtual care for rare and genomic disease in Minnesota and nationwide, envisioning a world where all patients have access to cutting-edge diagnostics, treatments, and specialists,” the company stated.
Patti Engel, president of Telerare, noted that people ultimately diagnosed with a rare disease “can be facing a labyrinth of complex treatment decisions.”
“One of the special things about our virtual genomic consult service is that the physician can give each participant individualized and tailored treatment options,” Engel said.
Goal of virtual consultations is better outcomes, per Telerare
There are thousands of known rare diseases globally. But while each of these conditions is individually uncommon, collectively, rare diseases affect tens of millions of people in the U.S. alone.
The vast majority of rare diseases for which a cause is known are due to genetic mutations. AADC deficiency, which is caused by mutations in the DDC gene, is one such example.
However, because rare diseases are by definition uncommon, those with such conditions often face an arduous odyssey to get a correct diagnosis.
“Rare diseases often mean the patient — and their family — are locked in a long diagnostic journey, including the need for a genetic assay,” Engel said.
Getting an accurate diagnosis is critical so that patients can get access to approved therapies. Accurate diagnoses are also important for patients with diseases that don’t yet have approved therapies but that may have investigational treatments in clinical trials or options for supportive care.
Rare diseases often mean the patient — and their family — are locked in a long diagnostic journey, including the need for a genetic assay.
Even when patients do get a correct diagnosis, navigating treatment options can be complex and requires individualized care, Engel noted.
AADC deficiency is a rare disease that has a treatment approved by the U.S. Food and Drug Administration (FDA) — the gene therapy Kebilidi (eladocagene exuparvovec-tneq), developed by PTC Therapeutics
Austin Letcher, chief operations officer of Telerare, outlined how virtual genomic consultations with the company may be helpful once a diagnosis is reached.
“Rare disease patients either have one or more FDA-approved effective commercial medications in their disease state, no commercial medication but access to clinical trials, or neither which means symptom management and trial awareness are paramount,” Letcher said. “Wherever the patient is across this triad, we focus on discerning the most practical and evidence-based path to better outcomes.”
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