Related work

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

The above work is done as part of a larger effort to support large-scale genomic screening. Recently published work from the Helix team highlighted the importance of such screening, demonstrating the prevalence of pathogenic and likely pathogenic variants in the Healthy Nevada Project cohort—90% of whom did not qualify for genetic screening under current clinical guidelines. The team also analyzed what impact these variants may have on disease free survival among individuals who fall under current clinical guidelines (vs those who don't).
 
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More Helix Research

With a large, engaged research community, Helix's research team has been active in a diverse range of projects. Learn more about our research below, featuring other ASHG 2020 posters as well as some recent publications. You can also catch up with our research here.

Prevalence of exonic CNVs in ACMG 59 genes

Bar graph showing prevalence of CNVs in ACMG genes

Unlike SNVs and indels, CNVs are not always reported as part of a healthy population screen or secondary findings analysis. Here, we present evidence that they should be, as 0.4% of the ~30,000 healthy individuals enrolled in the Healthy Nevada Project (HNP) were found to have CNV variants in ACMG 59 genes—showcasing the potential clinical impact of adding a CNV analysis to a screening program.
 

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Long-term COVID-19 symptoms in a large unselected population

Bar graph showing that individuals with >5 initial symptoms tend to experience COVID-19 symptoms longer than those with <5 symptoms

It is increasingly recognized that SARS-CoV-2 can produce long-term complications after recovery from the acute effects of infection. Here, we report the analysis of 32 self-reported short and long-term symptoms in a general adult population cohort comprised of 233 COVID-19+ cases—all but 8 of which were mild—and 3,652 SARS-CoV-2-negative controls as well as 17,474 non-tested individuals. Ours is the first population-based assessment of long-term COVID-19 symptoms, including mild cases and uninfected controls.
 

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Early onset of disease in individuals with a monogenic risk compared to individuals with high polygenic risk

How does the age of onset of disease for individuals with a high polygenic risk for breast cancer, colorectal cancer, or hypercholesterolemia compare to the age of onset of disease for individuals with monogenic risk—carrying a pathogenic variant—for these conditions? Here, we dive into this question using data from the Healthy Nevada Project cohort, including EHR and Exome+ for 40,000 unselected adults.
 

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Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

In a recent Nature Metabolism publication, including data from 4 different population genomics projects, Helix researchers suggest that broad-scale genetic screening may help identify a significant number of people with type 2 diabetes who’s care could be modified to reduce the burden of expensive and demanding treatments. This paper “strongly support[s] the hypothesis of a true genetic continuum of monogenic and polygenic forms of non-autoimmune diabetes...opening avenues for evidence-based precision medicine.”
 

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Bar graph showing prevalence of CNVs in ACMG genes
Bar graph showing that individuals with >5 initial symptoms tend to experience COVID-19 symptoms longer than those with <5 symptoms
Bar graph showing prevalence of CNVs in ACMG genes
Bar graph showing that individuals with >5 initial symptoms tend to experience COVID-19 symptoms longer than those with <5 symptoms