Genomic Data Has a Diversity Problem, But Global Efforts Are Underway to Fix It

Genomic Data Has a Diversity Problem, But Global Efforts Are Underway to Fix It

Genetic data sets skew too European, threatening to narrow who will benefit from future advances.

Louis Reed on Unsplash

Genomics has begun its golden age. Just 20 years ago, sequencing a single genome cost nearly $3 billion and took over a decade. Today, the same feat can be achieved for a few hundred dollars and the better part of a day . Suddenly, the prospect of sequencing not just individuals, but whole populations, has become feasible.

The genetic differences between humans may seem meager, only around 0.1 percent of the genome on average, but this variation can have profound effects on an individual's risk of disease, responsiveness to medication, and even the dosage level that would work best.

Already, initiatives like the U.K.'s 100,000 Genomes Project - now expanding to 1 million genomes - and other similarly massive sequencing projects in Iceland and the U.S., have begun collecting population-scale data in order to capture and study this variation.

Keep Reading Keep Reading
Farhan Mitha
Farhan Mitha is a freelance science writer based in London. He regularly writes about biotechnology, synthetic biology, and natural history, and is currently studying for a master's degree in Evolutionary Genomics. Find him on Twitter @FarhanMitha.
Genes shape our response to Covid virus

Important findings are starting to emerge from research on how genes shape the human response to the Covid virus.

Adobe Stock

From infections with no symptoms to why men are more likely to be hospitalized in the ICU and die of COVID-19, new research shows that your genes play a significant role

Early in the pandemic, genetic research focused on the virus because it was readily available. Plus, the virus contains only 30,000 bases in a dozen functional genes, so it's relatively easy and affordable to sequence. Additionally, the rapid mutation of the virus and its ability to escape antibody control fueled waves of different variants and provided a reason to follow viral genetics.

Keep Reading Keep Reading
Bob Roehr
Bob Roehr is a biomedical journalist based in Washington, DC. Over the last twenty-five years he has written extensively for The BMJ, Scientific American, PNAS, Proto, and myriad other publications. He is primarily interested in HIV, infectious disease, immunology, and how growing knowledge of the microbiome is changing our understanding of health and disease. He is working on a book about the ways the body can at least partially control HIV and how that has influenced (or not) the search for a treatment and cure.
New device finds breast cancer like earthquake detection

Jessica Fitzjohn, a postdoctoral fellow at the University of Canterbury, demonstrates the novel breast cancer screening device.

University of Canterbury.

Mammograms are necessary breast cancer checks for women as they reach the recommended screening age between 40 and 50 years. Yet, many find the procedure uncomfortable. “I have large breasts, and to be able to image the full breast, the radiographer had to manipulate my breast within the machine, which took time and was quite uncomfortable,” recalls Angela, who preferred not to disclose her last name.

Breast cancer is the most widespread cancer in the world, affecting 2.3 million women in 2020. Screening exams such as mammograms can help find breast cancer early, leading to timely diagnosis and treatment. If this type of cancer is detected before the disease has spread, the 5-year survival rate is 99 percent. But some women forgo mammograms due to concerns about radiation or painful compression of breasts. Other issues, such as low income and a lack of access to healthcare, can also serve as barriers, especially for underserved populations.

Keep Reading Keep Reading
Rina Diane Caballar
Rina Diane Caballar is a former software engineer turned freelance writer based in New Zealand. She covers tech and its intersections with science, society, and the environment. You can find her on https://rinacaballar.com/