Genetic screening for Gaucher disease identifies many patients that may never experience symptoms, according to a new study, and researchers argue that the benefits of early diagnosis of potentially harmful genetic mutations outweigh the negatives.
In the study, “Children with type 1 Gaucher disease: Changing profiles in the 21st century,” the researchers examined the characteristics of children born since screening became common, and noted that most patients who experience symptoms received a diagnosis based on these signs. The report was published on the journal Blood Cells, Molecules, and Diseases.
While Gaucher disease can affect people from all ethnic backgrounds, it is especially common in people in the Ashkenazi Jewish population. Genetic screening for Gaucher disease mutations is common in Israel, both in the form of premarital and prenatal tests.
But for Gaucher disease, a particular gene mutation does not predict the disease course. Researchers at the Shaare Zedek Medical Center in Israel illustrated this by mentioning the array of symptoms caused by the most common mutation in Ashkenazi Jews.
Patients with this genetic mutation, known as N370S/N370S, can live an entire life free from symptoms or experience a major impact of the disease beginning in childhood. This has raised questions about the benefits of genetic testing.
In an attempt to better understand patient characteristics and the impact of screening, the research team analyzed features in a group of children born in the 21st century and compared them to characteristics of children born before the turn of the century, presented in two earlier reports by the team.
Researchers discovered that 54.5 percent of the 67 children identified at the hospital had been diagnosed because of screening. In addition, 18.2 percent were diagnosed because they had an older sibling with disease, who had been diagnosed with the help of genetic screening.
Of the 19 children who had initiated enzyme replacement therapy, four had been identified by screening. The rest had been diagnosed based on symptoms. The study showed that the majority of children diagnosed by genetic tests had mild or no symptoms.
This was a significant contrast to the earlier studies, in which patients had more frequent and severe symptoms.
Therefore, the authors suggested that screening may be harmful in terms of psycho-social or legal issues related to knowledge about one’s genetic status.
Nevertheless, the team argued that the benefits of an early diagnosis and treatment outweighs the potential harm of knowledge that comes with genetic screening.