Related work
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
The above talk is a continuation of recently published work describing 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. We 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).
Article here >
Early onset of disease in individuals with a monogenic risk compared to individuals with high polygenic risk for three common autosomal dominant conditions
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
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.
See Poster >
Long-term COVID-19 symptoms in a large unselected population
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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Scalable return of results for large scale population genomics programs
Population genomics initiatives are rapidly enrolling tens of thousands of participants, providing them with personalized risk assessments, and, in some cases, medical guidance. There are challenges to scaling such processes and a clear need to meet the education and support needs of patients through easy-to-understand clinical return of results. To address this, we employed a human-centered design approach to develop a highly scalable, intuitive digital return of results experience for genetic tests.
See poster >
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.”
Abstract >
