Genomics England Increases Goal of Whole Genome Sequencing Project from 100,000 to 500,000 Sequences in Five Years

Genomic sequencing continues to benefit patients through precision medicine clinical laboratory treatments and pharmacogenomic therapies EDITOR’S UPDATE—Jan. 26, 2022: Since publication of this news briefing, officials from Genomics England contacted us to explain the following: The “five million genome sequences” was an aspirational goal mentioned by then Secretary of State for Health and Social Care Matt Hancock, MP, in an October 2, 2018, press release issued by Genomics England.As of this...

Proteomics May Hold Key to Understanding Aging’s Role in Chronic Diseases and Be Useful as a Clinical Laboratory Test for Age-related Diseases

Researchers are discovering it’s possible to determine a person’s age based on the amount of protein in the blood, but the technology isn’t always correct Mass spectrometry is increasingly finding its way into clinical laboratories and with it—proteomics—the study of proteins in the human body. And like the human genome, scientists are discovering that protein plays an integral part in the aging process. This is a most interesting research finding. Might medical laboratories someday use...

More Clinical Laboratories and Genetic Testing Companies Are Sharing Gene Sequencing Data That Involve Variations

The National Institute of Health’s ClinVar public database of genetic variation is demonstrating good accuracy, and a handful of clinical labs are learning to share and review this relatively small genetic database In the analysis of genomic variants, data sharing is proving to be an important tool for researchers, scientists, pathologists, and clinical laboratory scientists. Accessible databases like ClinVar, which was launched by the National Institute of Health (NIH) in 2013, have emerged...

NIH Funds Nine Anti-Microbial Resistance Diagnostic Projects to Deal with ‘Super Bugs’ and Give Clinical Laboratories New Diagnostic Tools to Improve Patient Care

Lab-on-a-chip technology could reduce the time needed to identify infection-causing bacteria and for physicians to prescribe correct antibiotics  Pathology groups and medical laboratories may see their role in the patient-care process grow if researchers succeed in developing culture-independent diagnostic tools that quickly identify bacterial infections as well as pinpoint the antibiotics needed to treat them. In the battle against antibiotic-resistant infections (AKA “super bugs”) the...

Researchers at Columbia University Report How Exome Sequencing Helped Diagnose Patients with Unknown Disorders

More precise diagnoses will encourage pathologists and clinical laboratory professionals to consider using exome sequencing for clinical diagnostic purposes Having sequenced the exomes of 150 patients to diagnose unknown disorders over the past year, physicians at Columbia University (CU) used that information to make decisive diagnoses in one-third of the cases. It is evidence from one of the nation’s pioneering gene-sequencing programs that such data can improve how physicians identify...
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