lasker award honors development of noninvasive prenatal dna test

Lasker Award Honors Development of Noninvasive Prenatal DNA Test

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It was a startling discovery: Tiny pieces of an unborn baby’s DNA were found floating through its mother’s bloodstream — not inside the mother’s cells, where genetic material is usually found, but rather outside them.

But when Dr. Yuk Ming Dennis Lo, a researcher in Hong Kong, described the finding in 1997, it was greeted with something of a shrug. Industry experts were so indifferent that after Dr. Lo’s team licensed the fetal DNA detection technology to a British company, he said, the company turned around and gave the license back.

Two decades later, the significance of the technique is no longer in doubt. Dr. Lo eventually helped turn his discovery into a noninvasive prenatal test for Down syndrome that has been performed tens of millions of times and adopted in more than 60 countries.

His work was recognized on Wednesday with a Lasker Award, which is among the most prestigious prizes in medicine, coming with $250,000 in winnings and a reputation for preceding a Nobel Prize. Dr. Lo won in the clinical medical research category.

The Lasker Foundation also awarded prizes in two other categories. Lauren Gardner, who created the Johns Hopkins University Covid-19 Dashboard, was given the public service award. A group of three researchers whose work relates to how cells interact with their surroundings received the basic medical research award, which goes to a fundamental discovery that opens new scientific territory.

Dr. Lo, of the Chinese University of Hong Kong, published his signature discovery in 1997, shortly after he moved back to Hong Kong, his birthplace, from Britain, where he had done his graduate studies. It was several months before Hong Kong would be returned to China, and a resulting exodus of professionals from the city had created plum university openings for young scientists like him.

For eight years, Dr. Lo had been trying to find reasonably high concentrations of fetal DNA in the mother’s bloodstream. Such a discovery, he hoped, could help to obviate the need for risky prenatal testing methods, which relied on sampling fetal tissue, and could open the door to noninvasive screenings instead.

Dr. Lo had been looking in the mother’s blood cells for the unborn baby’s genetic material. But he had also come across reports describing how DNA from a tumor had been found circulating not in blood cells, but in the watery portion of cancer patients’ blood, the plasma. If tumor DNA could be found in that portion of the bloodstream, why not fetal DNA, too?

“I had the strange thought that the cancer growing in the patients is a little bit like the placenta that has implanted into the uterus,” he said.

He started searching for traces of fetal DNA in the plasma. “That was a good guess,” he said.

Homing in on fetal DNA in the mother’s plasma remained tricky. Dr. Lo needed a way to detect the extra copy of chromosome 21 that causes Down syndrome. Separating out the mother’s DNA from the baby’s in tests did not work well enough. Instead, in 2008, Dr. Lo alighted on a technique in which he looked at a large sample of randomly chosen DNA fragments from the mother’s plasma and investigated whether those from chromosome 21 were very slightly elevated.

Dr. Lo likened the task to trying to figure out whether someone had one or two coins in their wallet. Unable to look inside the wallet, he could study their overall weight instead and, using an extremely finely tuned balance, could look for telltale extra fractions of a pound.

“I started to actually build that molecular balance,” he said.

The other Lasker awardees, too, managed improbable technical feats, albeit in different fields.

Lauren Gardner, a civil and systems engineering professor at Johns Hopkins University, received the public service award for leading the creation of a Covid-19 dashboard that she has said still offers the most detailed global picture of the pandemic.

On Jan. 21, 2020, a doctoral student of hers, Ensheng Dong, approached her about tracking cases of a novel pneumonia in his home country, China. Mr. Dong had the tools: He could mine Chinese websites for early case data, and he knew how to build online maps. Dr. Gardner said that she remembered the costs of not having access to timely data during outbreaks of Zika and Middle Eastern respiratory syndrome, or MERS, and she wanted to ensure that would not be the case again.

“I was thinking it would be mostly of interest to the research community,” she said.

Within a couple of months, the dashboard was receiving tens of millions of page views and more than 4.5 billion requests for data per day. In the absence of similarly fast or comprehensive case data from public health bodies like the World Health Organization or the Centers for Disease Control and Prevention, the university dashboard became a go-to source for policymakers, scientists and ordinary citizens alike.

It became so visible, Dr. Gardner said, that she later received calls from the U.S. State Department voicing concerns about how certain geopolitically sensitive countries were represented on their map.

Dr. Gardner said that the dashboard drew some of its power from being run out of a university, rather than the government. That feature stood in good stead during periods in 2020 when the Trump administration was downplaying case counts. But she said they were ultimately filling a void in public data that should have been addressed by the government.

“We were doing for the U.S. what the C.D.C. should’ve been doing, and for the world what the W.H.O. should’ve been doing,” she said. “But they didn’t have the resources to do it, and that needs to change.”

With governments reducing investments in detecting and reporting Covid cases, the future of the dashboard may be dictated more by the loss of high-quality data than by the direction of the pandemic itself, Dr. Gardner said.

However, she said she hoped that public demand for accessible health data would outlive the dashboard, even if there remained major challenges, such as a deficit of funding and an absence of national standards for how to report infectious disease cases.

“The best thing we’ve done is create this expectation for access to this type of data among the people that are affected,” Dr. Gardner said. Similar maps and dashboards, she said, could be useful well before the next pandemic: “Influenza data exists, but not in an accessible format that’s easy to digest, where I can see as a Marylander or Texan if there’s flu coming my way.”

The Lasker Award for basic medical research went to three scientists who described how cells bind to their surrounding networks of proteins and other molecules — findings that pointed the way toward treatments for a number of diseases.

Two of the winners — Richard O. Hynes, of the Massachusetts Institute of Technology, and Dr. Erkki Ruoslahti, of the Sanford Burham Prebys Medical Discovery Institute in San Diego — independently identified a protein that helps to fasten cells to that surrounding network.

The third, Timothy A. Springer, of Boston Children’s Hospital, found proteins that guided immune cells in the body and helped them recognize foreign antigens. That work, in the 1980s, drew skepticism from some scientists. Dr. Springer recalled a professor once passing a napkin down the bar at a scientific conference that read simply, “It doesn’t work.”

But it did. The research later formed the basis for treatments for dry eye disease and multiple sclerosis, as well as ulcerative colitis and Crohn’s disease, two types of inflammatory bowel disease.

As the three scientists, each in their own labs, homed in on the structure of the proteins they were studying, which are now known as integrins, it became clear that they were all part of the same molecular family. Dr. Springer recalled Dr. Hynes inviting him to his lab, where they compared the sequences of their respective proteins. He eventually met Dr. Ruoslahti at a conference organized by Dr. Hynes.

“It was like different kinds of apples — a Gala apple to a Fuji apple,” Dr. Springer said.

Despite their achievements, the Lasker awardees are still honing their findings. For Dr. Lo in Hong Kong, that has meant trying to use his critical insight from the 1990s — that tumors and unborn babies both leave genetic signatures in the bloodstream — to develop tests that screen for cancers. The tests are best at detecting bigger tumors but can find some early-stage cancers, too.

“If your method is sensitive enough,” he said, “it can actually save lives.”