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April 24, 2017updated 01 Sep 2022 2:23pm

23andMe: bringing early diagnosis of Type 1 Gaucher disease one step closer?

Earlier this month, the FDA approved 23andMe’s Genetic Health Risk Report, which can predict a person’s risk of Type 1 Gaucher disease (GD) from a sample of saliva.

By GlobalData Healthcare

Earlier this month, the FDA approved 23andMe’s Genetic Health Risk Report, which can predict a person’s risk of Type 1 Gaucher disease (GD) from a sample of saliva. The California-based company 23andMe is a private firm offering genetic analysis to the public.

The availability of the publicly accessible health risk report may add to the efforts made to reduce the delays in diagnosis that often hamper the otherwise effective treatment of Type 1 GD.

GD is a rare inherited disorder caused by mutations in the GBA1 gene, which leads to decreased activity of the hydrolytic enzyme, glucocerebrosidase (GCase), which breaks down glucocerebroside (GC). As a result, GC accumulates in macrophages, which transform to so-called Gaucher cells and infiltrate the body.

Accumulation of Gaucher cells in the bone marrow, spleen, and liver typically leads to reduced blood cell counts (cytopenia), enlarged spleen (splenomegaly), and liver (hepatomegaly) and bone lesions.

Left untreated, the condition can have debilitating complications – most commonly skeletal complications, such as osteonecrosis, which is an irreversible manifestation of the disease that can lead to the need for multiple joint replacements.

Type 1 GD is the most common form of the disease, accounting for approximately 90% of all GD sufferers, with an over-representation in the Jewish people of Eastern and Central European descent, referred to as the Ashkenazi Jewish population.

The estimated prevalence of GD among the Ashkenazi Jews is approximately 1 in 850, and it is estimated that one in 10 of this population is a carrier of the disease. The prevalence is much lower, approximately 1 in 40,000 to 1 in 60,000, among the general population.

Type 1 GD can be effectively treated with replacement of the GCase by enzyme replacement therapy (ERT), such as Genzyme’s Cerezyme, or by substrate reduction therapy (SRT) that reduces the rate of GC biosynthesis, such as Genzyme’s Cerdelga.

According to key opinion leaders (KOLs) interviewed by GlobalData, the success of such therapies is dependent on early treatment initiation through which the development of irreversible complications can be minimized.

The report marketed by 23andMe is a carrier status report that indicates whether a person has variants in the GBA gene- specifically N370S, 84GG, and V394L – associated with an increased risk for developing symptoms of the disease.

In many cases, however, the disease manifestations and severity do not correlate with these mutations, and GD cases can range from asymptomatic to fully symptomatic even among individuals carrying the same mutations. In particular, a significant number of Ashkenazi Jewish patients are mutation carriers, but have a mild disease and are never diagnosed with GD or seek treatment.

Therefore, newborn screening, which is an effort aimed at the early identification of patients with GD, is a controversial and costly approach to pick up more patients, and it is not generally available.

At present, many patients experience long delays in diagnosis due to the broad range of symptoms and the lack of awareness of GD among physicians who initially see these patients.

Although the disease manifestations do not correlate with GBA gene mutations in many cases, once GD is suspected, a diagnosis can be reached relatively easily by measuring the GCase activity in the patient’s blood cells.

While assessing the genetic risk of an individual, it is important to note that being positive for the mutations does not mean the patient will develop the disease. Still, the authorization by the FDA to market genetic health risks reports for GD could help reducing the delays in diagnosis in some patients and minimize the risk of developing irreversible complications.

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