Common DNA Testing Method Using SNP Chips Struggles to Find Rare Variants Associated with BRCA Test, UK Researchers Find

Results of the UK study confirm for clinical laboratory professionals the importance of fully understanding the design and function of SNP chips they may be using in their labs Here is another example of a long-established clinical laboratory test that—upon new evidence—turns out to be not as accurate as once thought. According to research conducted at the University of Exeter in Devon, UK, Single-nucleotide polymorphism (SNP) chips (aka, SNP microarrays)—technology commonly used in commercial...

Researchers Easily Reidentify Deidentified Patient Records with 95% Accuracy; Privacy Protection of Patient Test Records a Concern for Clinical Laboratories

Protecting patient privacy is of critical importance, and yet researchers reidentified data using only a few additional data points, casting doubt on the effectiveness of existing federally required data security methods and sharing protocols Clinical laboratories and anatomic pathologists know the data generated by their diagnostics and testing services constitute most of a patient’s personal health record (PHR). They also know federal law requires them to secure their patients’ protected...

Tiny Faroe Islands to Begin Sequencing Genomes of All 50,000 Residents in Ambitious Effort to Advance Personalized Medicine

Because of isolation from the worldwide DNA pool for the past 1,200 years, Faroese population is vulnerable to recessive gene disorders Because of the dramatic—and still falling—cost of DNA sequencing, an ambitious project is launching with the goal of sequencing the full DNA of all 50,000 residents of the Faroe Islands. When completed, this project has the potential to reshape molecular diagnostics and clinical laboratory testing. FarGen is the name of this effort and pathologists and...
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