News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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World’s Largest Genetic Study in Iceland Produced New Insights into Gene Function and Disease Predisposition that Could Lead to New Clinical Laboratory Tests

Researchers sequenced the entire genomes of 2,636 Icelanders and gained useful insights into how human genes evolve and mutate

Over the past 15 years, Iceland has managed to be at the forefront of genetic research tied to personalized medicine and new biomarkers for diagnostics and therapeutics. This is true because, as most pathologists know, Iceland has a small population that has seen little immigration over the past 1,000 years, along with a progressive government and business community.

The relatively closed society of Iceland makes it much easier to identify genetic sequences that contribute to different diseases. The latest example of such research findings comes after the genomes of 2,636 Icelanders were sequenced. In addition to this being the world’s largest-ever study of the genetic makeup of a single population, the findings suggest a strategy for analyzing the full-spectrum of genetic variation in a single population.

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Finding Genomes with ‘Knockout’ Genes Leads to Development of New Therapeutic Drugs, along with Clinical Laboratory Tests for these Biomarkers

Drugs based on knockout genes are expected to trigger the need for companion diagnostic tests that will be performed by pathologists and medical laboratory scientists

Pharmaceutical companies and other research programs are developing a new opportunity to use information from human genome sequencing to create a new class of therapeutic drugs. These drugs target “knockout genes” and those same genes are expected to be used as diagnostic biomarkers for clinical laboratory testing as a new field of companion diagnostics emerges.

In simplest terms, large-scale DNA sequencing of the human genome is enabling researchers to identify individuals with “knockout” genes and then develop therapeutic drugs based on that knowledge.

The first commercial success story from this partnership of geneticists and the pharmaceutical industry is expected to be a new class of drugs that lowers cholesterol. These drugs may reach pharmacy shelves this year, reported an October 24 Nature article. (more…)

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