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Clinical genetic testing, also known as genetic diagnostics or molecular diagnostics, is a medical examination conducted to analyze a person’s DNA, genes, or chromosomes. It involves the identification and evaluation of genetic variations or mutations that may contribute to a particular disease or condition. There are many labs and companies that provide clinical genetic testing around…

What symptoms do physicians typically order for genetic testing for rare disease? Rare diseases may individually affect a small number of people, but collectively, they impact a significant portion of the population. As a company that helps diagnose rare genetic diseases, we usually meet new physicians or researchers from around the world. Some of them are…

According to the statistics, orphan drugs accounted for 58% of the newly approved drugs in 2020 and the total sale of orphan drugs accounted for approximately 20% of the pharmaceutical market in the United States.1 Orphan drug sales are growing at a much faster rate (11.3% growth rate) than overall drug sales (6.4%).2 Advancement in the personalized…

There are many genetic testing sequencing companies around the world that support clinical diagnostics in 2023. And each touting their sequencing quality, affordability, proximity and so on as the best option for healthcare providers. However, the circumstances under which a healthcare provider needs a sequencing company are different. Moreover, even when sequencing using the same…

‘The Good Doctors’ is a programmed series of interviews to meet doctors who encounter patients with rare diseases every day and hear their stories. These interviews were planned to provide better insight for physicians by asking how genetic testing for rare diseases is conducted, how it’s used at their clinics, and how it can be…

A doctor may recommend genetic testing for your child if they suspect that he or she has a genetic disease. Let’s learn about when this happens and what you need to know to respond appropriately. Why, when and which genetic testing is appropriate for my child? Genetic disease in children Genetic disease can appear in different ways in…

It can be quite discouraging to discover that you have an undiagnosed medical condition after undergoing genetic testing. However, with the rapid advancements in genetic research, reanalysis offers new hope. Recent studies indicate that reanalyzing genetic data can significantly improve diagnostic rates, reflecting ongoing advancements in the field. A 2019 study revealed that reanalysis within five years…

One day, 3billion received a blood sample from an elderly European woman suffering from ataxia, on which whole-exome sequencing (WES) was performed to determine its cause. Following examination, she was diagnosed with Huntington disease. What is Huntington disease? Huntington disease is an inherited, progressive, and neurodegenerative disorder characterized by multiple symptoms, including chorea, impaired coordination,…

There was a male infant present with cryptorchidism and muscle weakness. Both parents of the child were unaffected, and there was no family history. The clinician suspected congenital myotonic dystrophy. The proband was an infant male present with cryptorchidism and muscle weakness. Both parents were unaffected and there was no family history. The clinician suspected…

Summary Keywords: genomic data privacy, anonymization, deidentification, differential privacy Introduction: the importance of genomic data privacy Several research initiatives are combining genomic data with other types of data, such as clinical data. In surveys, many researchers need to integrate various data into their research field for new scientific findings1. To integrate various data including genomic…