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...

International Team of Genetic Researchers Claim to Have Successfully Mapped the Entire Human Genome

With 100% of the human genome mapped, new genetic diagnostic and disease screening tests may soon be available for clinical laboratories and pathology groups Utilizing technology developed by two different biotechnology/genetic sequencing companies, an international consortium of genetic scientists claim to have sequenced 100% of the entire human genome, “including the missing parts,” STAT reported. This will give clinical laboratories access to the complete 3.055 billion base pair (bp)...

Advancements That Could Bring Proteomics and Mass Spectrometry to Clinical Laboratories

Experts list the top challenges facing widespread adoption of proteomics in the medical laboratory industry Year-by-year, clinical laboratories find new ways to use mass spectrometry to analyze clinical specimens, producing results that may be more precise than test results produced by other methodologies. This is particularly true in the field of proteomics. However, though mass spectrometry is highly accurate and fast, taking only minutes to convert a specimen into a result, it is not fully...

Two Boston Health Systems Enter the Growing Direct-to-Consumer Gene Sequencing Market by Opening Preventative Genomics Clinics, but Can Patients Afford the Service?

By offering DTC preventative gene sequencing, hospital leaders hope to help physicians better predict cancer risk and provide more accurate diagnoses Two Boston health systems, Brigham and Women’s Hospital and Massachusetts General Hospital (MGH), are the latest to open preventative gene sequencing clinics and compete with consumer gene sequencing companies, such as 23andMe and Ancestry, as well as with other hospital systems that already provide similar services. This may provide...

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...
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