Gaucher disease, a rare genetic disorder with significant health implications, has been at the forefront of recent medical discussions due to concerns over delayed diagnoses and treatment initiation. Despite advances in diagnostic methods, many patients still face extended periods before receiving an accurate diagnosis, impacting their treatment and overall health outcomes. The medical community, including key opinion leaders (KOLs), emphasizes the urgent need for improved diagnostic practices to address these delays, according to GlobalData, a leading data and analytics company.

Gaucher disease, which is caused by defects in the GBA1 gene, results in harmful glucocerebroside accumulation, which may affect the spleen, liver, and nervous system.

Sulayman Patel, MSci, Pharma Analyst at GlobalData, comments: “In usual practice, individuals with Gaucher disease typically undergo examinations such as glucocerebrosidase activity testing and/or genetic testing to identify pathogenic variants on the GBA1 gene. However, diagnoses have been historically challenged by the diverse nature of disease progression and intricate symptoms across different subtypes. Alongside substantial disease overlap and low prevalence, healthcare systems have encountered significant hurdles in effectively diagnosing the entire patient population.”

GlobalData’s latest report, “Gaucher Disease: Opportunity Assessment and Forecast,” reveals that the market across the seven major markets (7MM: the US, France, Germany, Italy, Spain, the UK, and Japan) was valued $1.22 billion in 2022. A steady growth is anticipated at a compound annual growth rate of less than 1% from 2022 to 2032.

With over 50 mutations associated with Gaucher disease, predicting the phenotype or prognosis based on genetic testing proves challenging, leading to delays in diagnosis. This may result in late treatment initiation after which, in certain cases, symptoms such as advanced bone disease have become irreversible.

Patel continues: “KOLs called for consistent, increased use of newborn screening (NBS) protocols for Gaucher disease to curtail diagnostic delays and ensure timely treatment plans, referring to previous successes demonstrated in screening conditions such as sickle cell disease and cystic fibrosis. However, this process involves substantial costs for payers and introduces concerns such as parental anxiety and the potential for insurance discrimination.”

Whilst NBS is promising, its widespread adoption demands significant resources, involving training healthcare professionals and building technological infrastructure, requiring substantial funding for setup and optimization.

Similarly, KOLs advocated for prenatal screening, although challenges arise, especially within the Ashkenazi Jewish community, who are known for the highest Gaucher disease prevalence. The heightened carrier frequency adds a distinct issue to prenatal screening, where cultural and religious factors significantly influence decision making.

Patel concludes: “As articulated by a US KOL, ‘Once a family receives a certain mark, it makes things difficult’, underscoring the intricate challenges with diagnosing Gaucher disease.

“Indeed, early patient diagnosis is vital to prevent irreversible symptoms, improve outcomes and boost market share for pharmaceutical players. Strategic action by healthcare providers and drug companies is essential, such as promoting NBS and prenatal testing, educating patients and fostering dialogues among relevant stakeholders.”