The Genetic Link

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Article by: Katherine Lawless

Trending topics at ASHG 2020


For the first time, like most conferences this year, the American Society of Human Genomics (ASHG) went virtual. Despite the challenges and limitations of hosting one of the biggest genomic events in the world virtually, ASHG 2020 was quite successful. ASHG continued to bring the world of genomics together to share and discuss important work in research and industry. DNA Genotek attends every year to share and learn about innovations in technology and breakthroughs in current research trends. As usual, there is a lot going on at ASHG, but our team noticed some important key trends that dominated many of the conversations at the conference.

Underrepresentation in population genomics

Over the years, population genomics grew due to the increase of new technology that allows researchers and companies to collect biological samples from large populations. However, many of those genetic studies have largely focused on European or European-derived populations. This underrepresentation has created gaps in understanding the genetic basis of human variation. At ASHG there were many different sessions devoted to talking about the topic of diversity within cohorts. [1]

For example, session 24 “Underrepresented Populations in Genomics: Health, Evolutionary, and Ethical Aspects,” had four researchers talk about this issue and how the inclusion of minority populations in genetic research is needed to benefit the future advances in research and genomic medicine. Dr. Lluis Quintana-Murci form Pasteur Institute and College de France gave a talk during this session regarding the genomic history of neglected populations focusing on Africa and the Pacific.

Another session, “Asthma in diverse populations” also covered the issue of underrepresentation in human genetic research, but specifically for asthma studies. According to the sessions’ abstract, asthma is the most common chronic disease of children and has the highest racial/ethnic disparities in the USA. The session talked about how the current European-centric research findings disproportionately benefit populations of European descent and how there are now ongoing efforts to address the increasing health disparity. [2]

There is enormous value in diversity and improving representation in study populations can impact both research and healthcare. [3] Some studies are even setting up biobanks of minority populations to keep genomic data local, due to underrepresentation in large scale genomic studies, such as indigenous populations. [4]

Pushing for more pharmacogenomics and genetic experts in healthcare

Another topic that flowed through different talks and discussions was the high demand for genetic councilors. The human genomics community in the bio-pharmaceutical industry is growing rapidly, however the healthcare provider’s genomic experts (such as genetic counselors and more) is not growing at the same rate. Industries are trying to educate and advocate the benefits of human genetics to people everywhere, so they can unite the diagnostic/bio-pharmaceutical companies and healthcare providers to conduct biomedical research and translate them to patients. This would hopefully increase the number of genetic experts in healthcare institutions as pharmacogenomics becomes more standardized. [5]

An example of this relationship between diagnostic companies and healthcare providers happened this year with Helix and Renown Institute for Health Innovation (Renown IHI) in Nevada in January [Learn more about the partnership between Helix and Renown IHI here].

Companies like Invitae acquired ArcherDx to accelerate the utilization of genetic information throughout a cancer patients' journey. [For more information you can read Invitae’s press release].

Epidemiology of the SARS CoV-2 virus and how it is changing

Naturally, it is not a surprise to see the SARS-CoV-2 virus as a popular topic at ASHG this year. There have been many different research projects focused on studying the virus around the world as we try to understand this novel RNA virus amidst the pandemic. ASHG published an article highlighting three studies from ASHG members that addressed human genomics and COVID-19 susceptibility and severity. [6]

  • Jack Kosmicki from Regeneron Genetics Center presented the results of the largest trans-ancestry exome sequencing study of COVID-19 to date. Their team of researchers identified a new locus of the viral RNA and suggested that it contributes to variability in severity of the virus. [7]
  • Andrea Ganna from the Institute of Molecular Medicine Finland and her team conducted a meta-analysis from the COVID-19 Host Genetics Initiative where they identified 6 COVID-19 associated genes in two chromosomic regions that are related to inflammation. [8]
  • A Rouf Banday from the National Cancer Institute of the National Institutes of Health (NIH) discovered a novel variant of the enzyme ACE2 which SARS-CoV-2 uses to target cells. This variant is known to be induced by interferons and viral infections, including SARS-CoV-2. This research could potentially contribute to therapeutic strategies for COVID-19. [9]

Despite the challenges of hosting one of the biggest genomic conferences of the year on a virtual platform, many important topics were addressed. These included the need for more diversity in genomic studies, efforts to bring diagnostic/bio-pharmaceutical companies and healthcare providers together for pharmacogenomics, and the genetic efforts to understand and manage the world’s deadliest virus, SARS-CoV-2.

If you attended ASHG this year we’d love to hear what topics stood out to you.

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 [1] Session 24. Underrepresented Populations in Genomics: Health, Evolutionary, and Ethnical Aspects. ASHG 2020

 [2] Session 23. Asthma in diverse populations. ASHG 2020

[3] Session 18. Strength in Diversity: Improving representation in study populations. ASHG 2020

[4] Session 46. Indigenous Biobanking: Global Perspectives on Keeping Our Genomic Data Local. ASHG 2020

[5] Presidential Symposium. The Big Tent of Genetics and Genomics: Research, Translation, and Advocacy. ASHG 2020


[7] Kosmicki, J. et al. Abstract: Trans-ancestry imputation and exome sequencing of 868,021 individuals identifies 4 loci and 3 genes associated with COVID-19 susceptibility and hospitalization. Presented at the American Society of Human Genetics 2020 Virtual Meeting.

[8] Ganna, A. et al. Abstract: The COVID-19 host genetics initiative identifies genetic factors associated with COVID-19 susceptibility, severity, and outcomes. Presented at the American Society of Human Genetics 2020 Virtual Meeting.

[9] Banday, A.R. et al. Abstract: The discovery of a novel primate-specific and inducible truncated isoform of ACE2 and its implications for SARS-Cov-2 infection. Presented at the American Society of Human Genetics 2020 Virtual Meeting.

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