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NIST uncorks the bottle on entire pancreatic cancer genome

In 2022, NIST started the Cancer Genome in a Bottle program as part of a major partnership between government, universities and industry to focus on fighting cancer. Specifically, the goal of the effort was to sequence cancer genomes to provide better detection capabilities and treatment accuracy. Many people expected good results within a decade. But NIST just dropped the equivalent of a research earthquake with the release of the entire pancreatic cancer genome, which is now freely available to researchers, clinical labs and drug companies to help develop lifesaving therapies and treatments.

The secret to the success of the program was an anonymous cancer patient, reportedly a 61-year-old woman who fully consented to making the genetic code of her cancer cells publicly available for research and clinical use. She also provided genetic information from healthy cells so that researchers could compare the two and help to spot differences and changes that could lead to better detection of cancer cells much earlier in the process.

In addition to the groundbreaking data, the release of the cancer genome is important because this is one of the first times that a patient has consented to have their genetic information made publicly available. Many of the previous cancer cell lines used by researchers today were stolen from patients without their knowledge. One of the most infamous examples of this was the case of Henrietta Lacks, a woman from Baltimore who had her cervical cancer cells harvested for use in research without her knowledge. 

Despite being later buried in an unmarked grave, her cells lived on and contributed to the development of vaccines for everything from polio to COVID-19. The Immortal Life of Henrietta Lacks became a best-selling book and an HBO movie starring Oprah Winfrey. According to NIST officials, the hope is that not only will the release of the cancer data help with treatments, but also take a stand against the non-consensual harvesting of cancer cells.

“In the past, there have been controversies about using genetic data for research due to the lack of consent by patients,” said NIST biomedical engineer Justin Zook. “This is the first cancer cell line developed from an individual who explicitly consented to making her genomic data freely available to the public.” 

The release of the pancreatic cancer genome is part of the broader, 12-year old Genome in a Bottle consortium project. To generate accurate data on pancreatic cancer cells, NIST used 13 state-of-the-art sequencing platforms with distinct, cutting edge genome measurement technologies. Some of those technologies were only recently developed by the consortium, and the newly released cancer dataset contains separate results for each of the 13 techniques used to sequence the cancer genome. That means that scientists around the world can now compare the data they are generating with NIST’s, and if there are discrepancies, they can quickly determine whether their equipment is working properly and remedy the problem if not. 

“Labs can use NIST’s database to perform quality control on their equipment,” said Zook. “As a result, the public can have more confidence in the results produced by clinical laboratories that analyze cancer tumors.”

Finally, the new data can be used by the emerging and evolving artificial intelligence platforms working in the medical field. It’s been well-established that generative AI requires good data input in order to avoid hallucinations and inaccurate responses. Given the fact that researchers can now train AI platforms on perfect and complete cancer data, NIST expects that the AI models will soon be able to better detect cancer-causing mutations. The hope is that the AIs, armed with the new information, will also be able to accurately determine which drugs would work best for treating those cancers.

It’s still very early in NIST’s cancer-fighting efforts, but more cancer genomes should be coming soon. While much of the data in the new pancreatic cancer genome can be used to help detect and treat any type of cancer, some of it is still going to be specific for pancreatic cancer, which is why more sequencing from other types of cancer is needed.

“Long term, we would love to see our research lead to new and better cancer diagnostics and treatments,” Zook said.

Beyond just handing cancer-fighting researchers a powerful new weapon, NIST’s Cancer Genome in a Bottle project may also change the culture of research altogether. Instead of private cell lines harvested under mirky circumstances, we may see a shift to public datasets responsibly harvested using responsible science. That will hopefully lead to more information sharing, better treatments and maybe the holy grail of unobtainable goals: a cure for cancer once and for all.

John Breeden II is an award-winning journalist and reviewer with over 20 years of experience covering technology. He is the CEO of the Tech Writers Bureau, a group that creates technological thought leadership content for organizations of all sizes. Twitter: @LabGuys

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