What Researchers Need to Know for the Week of April 4, 2022

The news cycle last week was full of government updates, but the area of genomics was particularly active.  

The NIH set the research community abuzz when it announced that researchers successfully sequenced the entire human genome, an outcome nearly twenty years in the making. But disappointing news also arrived, as researchers discovered that many countries are falling short of sharing the entirety of their genomic data from COVID research. 

The All of Us Research Program hosted an exciting online convention for researchers, and a great new article came out that outlines strategies for understanding what diversity really means in participant recruitment.  

National Institutes of Health Announcements 

Researchers generate the first complete, gapless sequence of a human genome 

2003 was a banner year for genomics; it was then that the Human Genome Project made history when it produced a draft of the human genome, by sequencing 92% of it. But since then, the remainder has proven elusive. Now, a team of nearly 100 scientists from the Telomere-to-Telomere (T2T) Consortium has unveiled the complete human genome – a complete, gap-free sequence of the roughly 3 billion bases in our DNA. 

Even though some research groups have already incorporated the pre-release version of the sequence, studies aiming to understand how genetics contribute to disease will benefit greatly from the complete sequence.  

Biden’s new biomedical agency fails to gain independence from NIH 

Despite making a bid for full autonomy, the new biomedical research agency for high-risk, cutting-edge research will officially sit within the National Institutes of Health (NIH). With a $1 billion starting budget, the new agency aims to be “a new member of the HHS family with a distinct mission” despite falling under the NIH’s structure. 

Meanwhile, there are still a lot of details that remain to be worked out, including the total funding share of the budget.

All of Us Research Program News 

All of Us Research Program Hosts Researchers’ Convention 

Last week, the All of Us Research Program hosted a two-day virtual event focused on researchers at various educational and professional career stages. The Researchers Convention provided an opportunity for researchers using the All of Us Research Program datasets and offered sessions, fireside chats, and a way to highlight research projects created using the All of Us data. 

Research Participant Recruitment 

To Create a Diverse Research Participant Population, Start with These Strategies 

Many researchers struggle with how to take real steps to reduce health disparities and achieve diversity, equity and inclusion in health research.  

Creating a diverse research participant population goes beyond listing desired ethnic, gender, socioeconomic, and other groups, and requires that you seek inputs into what obstacles they face, and what needs they have. This article outlines where to start if you want to make real improvements. 

Diversity Initiatives 

Even as medicine becomes more diverse, main authors in elite journals remain mostly white and male 

A new study revealed that fewer than 1 in 4 lead or senior authors of articles in two major journals were women, while Black researchers likely accounted for between 2% to 7% of these main authors, and Hispanic researchers between 2% to 4%. The study took a look at the Journal of the American Medical Association and the New England Journal of Medicine, finding that representation of these groups in authorship seems to have hit a roadblock. 

Genomics and Research 

Genome data gaps could stymie search for next COVID variant 

Researchers have completed an analysis of the genomic data shared by countries across the globe – and found the results lacking. Even though countries are sharing SARS-CoV-2 genomes on public repositories, and doing so faster than ever, more than one-third uploaded fewer than 50% of their sequences from the variants of concern Alpha, Beta, Gamma and Delta. 

Without complete data, researchers fear that it could be harder to identify the next COVID-19 variant of concern, and impact response to it.