familial hypercholesterolemia

Genetic Screening for Familial Hypercholesterolemia

Genetic screening for definite Familial Hypercholesterolemia (FH) looks for pathogenic variants in the LDLR, APOB, or PCSK9 genes, as not everyone with a family history of high cholesterol or heart disease has FH. Health professionals recommend genetic testing when an individual’s relatives have been previously diagnosed with FH or based upon physical examination for symptoms  … Read more

Helix COVID-19 Viral Surveillence

How Helix rapidly scaled to provide national viral surveillance and what’s still needed in 2022

In September 2020, researchers in the UK first detected a SARS-CoV-2 variant that was more transmissible and deadly than the original strain. Later designated as the Alpha variant by the World Health Organization (WHO), the surge in cases caused by this variant led to England declaring a third national lockdown just a few months later.  … Read more

Masked Doctor

Why Post-Pandemic US Health Systems Will Look – and Act – Differently

Health systems in the U.S. have always played an important role in supporting public health, but the past two years have required them to step into a more expansive role. With the unexpected demands of an unfolding pandemic, health systems have taken leading roles educating the community about the virus, organizing large-scale viral testing sites,  … Read more

Face Masks

Omicron Variant Contains a “Greatest Hits” Collection of Mutations

Viral surveillance has once more proven its usefulness as researchers in South Africa alerted the world to the growing prevalence of Omicron—a new SARS-CoV-2 variant which, on November 26, was designated by the World Health Organization (WHO) as a Variant of Concern.1 In the short time since it was first described in South Africa in  … Read more

COVID-19 Vaccine

First Pharmacogenomics Study on COVID-19 Vaccine Reactions

  In January, Helix scientists published the first pharmacogenomics study on COVID-19 vaccine reactions, reflecting the power of collecting and combining phenotypic data with comprehensive sequencing on large populations.  Scientists surveyed more than 17,000 participants from the Helix DNA Discovery Project and Healthy Nevada Project, who had their DNA previously sequenced with the Helix Exome+  … Read more

Map of U.S. COVID variant cases

SARS-CoV-2 Trends: Recent Variants, What’s to Come, and What’s Still Needed

  Almost a year after the initial onset of COVID-19, new variants of SARS-CoV-2 emerged, spreading quickly and straining health systems globally. What can we learn from those variants and how can health system leaders gain insights into what’s to come in order to prepare their communities? Active viral surveillance is a critical part of  … Read more

Covid Survey

Evidence of “double mutant” substitutions E484Q and L452R in the B.1.429 lineage suggest convergent evolution of immune escape mutations

Two variants have been shown to help the SARS-CoV-2 virus avoid the immune system’s antibody response; their emergence in separate viral lineages suggests convergent evolution in response to selective pressure.


Update on the Helix, Illumina surveillance program: B.1.1.7 variant of SARS-CoV-2, first identified in the UK, spreads further into the US

Most recent update: January 11th, 2021 What’s new? Helix has identified 74 cases of B.1.1.7 (up from the 51 reported in our January 6 update). B.1.1.7 appears to currently represent 0.27% of all positive tests and 43% of SGTF samples, up from 0.17% and 34% last week, respectively. B.1.1.7 has been found in 3 additional  … Read more

Covid Survey

Is the new SARS-CoV-2 UK variant (B.1.1.7) already in the US? Maybe.

Since the onset of the COVID-19 pandemic, there has been concern about novel SARS-CoV-2 mutations emerging that are more transmissible. Recently, multiple novel strains of SARS-CoV-2 have been found to share the same deletion of amino acids H69 and V70.  At least some of these strains are hypothesized to have increased transmissibility, and some have  … Read more

Helix Covid Laboratory

Why Helix researchers are studying DNA to learn about COVID-19

Over the next several days, Helix researchers will be reaching out to hundreds of thousands of people—each of them having already had their DNA sequenced by Helix—with a short survey. The survey collects information about a person’s possible exposure to COVID-19, any symptoms (or lack thereof) that they may be experiencing, and any medications they  … Read more

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