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Home Health

Hospital and drug maker move to build huge database of DNA of New Yorkers

by Nick Erickson
August 12, 2022
in Health
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Hospital and drug maker move to build huge database of DNA of New Yorkers
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The Mount Sinai Health System started this week setting up a massive database of patient genetic information for study by researchers — and by a major pharmaceutical company.

The goal is to look for treatments for diseases ranging from schizophrenia to kidney disease, but the attempt to collect genetic information for many patients, gathered during routine blood draws, can also pose privacy concerns.

The data will be made anonymous and Mount Sinai said it had no intention of sharing it with anyone but researchers. But consumer or genealogy databases full of genetic information, such as Ancestry.com and GEDmatch, have been used by detectives looking for genetic clues that could help them solve ancient crimes.

Huge sets of genetic sequences could unlock new insights into many diseases and also pave the way for new treatments, Mount Sinai researchers say. But the only way to compile those research databases is to first convince large numbers of people to agree to have their genomes sequenced.

In addition to chasing the next breakthrough drug, researchers hope that the database, combined with patient medical records, will provide new insights into how the interplay between genetic and socioeconomic factors — such as poverty or exposure to air pollution — may affect people’s health.

“This is really transformative,” said Alexander Charney, a professor at the Icahn School of Medicine at Mount Sinai, who oversees the project.

The health system hopes eventually to collect a database of genetic sequences for 1 million patients, which would mean that about one in every 10 New York City residents would be included. The effort began this week, said a hospital spokeswoman Karin Eskenazi.

This isn’t Mount Sinai’s first attempt at building a genetic database. For some 15 years now, Mount Sinai has been slowly building a bank of biological samples, or biobank, called BioMe, containing about 50,000 DNA sequences to date. However, researchers are frustrated at the slow pace, which they attribute to the cumbersome process they use to obtain consent and enroll patients: multiple surveys and a lengthy one-on-one conversation with a Mount Sinai employee that can take 20 minutes. lasts, according to Dr. Girish Nadkarni of Mount Sinai, who along with Dr. Charney leads the project.

Most of that consent process is on the sidelines. Mount Sinai has jettisoned the health surveys and reduced the procedure to watching a short video and providing an autograph. This week, it began trying to enroll most patients who have blood tests as part of their routine care.

A number of major biobank programs already exist across the country. But the one that wants to build Mount Sinai Health System would be the first large-scale that mainly draws participants from New York City. The program could mark a shift in the number of New Yorkers who think about their genetic information from something private or unknown to something they’ve donated to research.

The project involves sequencing a large number of DNA samples, an undertaking that could cost tens or even hundreds of millions of dollars. To avoid those costs, Mount Sinai has partnered with Regeneron, a major pharmaceutical company, who will do the actual sequencing work. In return, the company will get access to each participant’s genetic sequences and partial medical records, according to the Mount Sinai doctors leading the program. Mount Sinai also plans to share data with other researchers as well.

While Mount Sinai researchers will have access to anonymized electronic health records of every patient who participates, the data shared with Regeneron will be more limited, Mount Sinai said. The company has access to diagnoses, lab reports and vital signs.

Combined with health records, large genetic data sets can help researchers identify rare mutations that either have a strong association with a particular disease or protect against it.

It remains to be seen whether Mount Sinai, one of the city’s largest hospital systems, can meet its goal of enrolling one million patients into the program, which the hospital calls the “‘Mount Sinai Million Health Discoveries Program’.” If so, the resulting database will be one of the largest in the country, alongside one from the U.S. Department of Veterans Affairs and a National Institutes of Health project that aims to eventually enroll 1 million Americans. currently too short.

(Those two government projects include whole-genome sequencing, which reveals an individual’s entire DNA makeup; the Mount Sinai project will determine about 1 percent of each individual’s genome, called the exome.)

Regeneron, which has become widely known in recent years for its effective monoclonal antibody treatment for Covid-19, has sequenced and studied the DNA of approximately 2 million “patient volunteers”, mainly through collaborations with health systems and a large biobank in Greater America. Britain, according to the company.

But the number of patients Mount Sinai hopes to enroll — coupled with their racial and ethnic diversity, and those of New York City in general — would set it apart from most existing databases.

“The scale and the kind of discoveries we can all make is very different from what has been possible with smaller studies so far,” says Dr. Aris Baras, senior vice president at Regeneron.

People of European descent are typically overrepresented in genomic datasets, meaning, for example, that genetic testing people undergo for cancer risk are much more attuned to genetic variants common in white cancer patients, said Dr. baras.

“If you’re not of European descent, there’s less information about variants and genes and you don’t get as good a genetic test as a result,” said Dr. baras.

Mount Sinai Health System, which has seven hospitals in New York City, sees approximately 1.1 million individual patients each year and processes more than 3 million outpatient visits to doctor’s offices. dr. Charney estimated that the hospital system was drawing the blood of at least 300,000 patients every year, and he expected many of them to agree to have their blood used for genetic testing.

The enrollment rate for such data collection is usually high — about 80 percent, he said. “So the math is correct. We should be able to get to a million.”

Mark Gerstein, a professor of biomedical informatics at Yale University, said there was no doubt that genomic data sets were the driving force behind major medical discoveries. But he said he still wouldn’t participate in it himself, and he urged people to consider whether adding their DNA to a database could one day affect their grandchildren.

“I tend to be a worry child,” he said.

Our collective knowledge of mutations and what diseases they are associated with — whether Alzheimer’s or schizophrenia — would only increase in the coming years, he said. “If the data sets were to leak one day, the information could be used to discriminate against current participants’ children or grandchildren,” said Dr. Gerstein. They could be teased or denied insurance, he added.

He noted that even if the data was anonymous and secure today, that could change. “Securing the information over long periods of time is going to be much more difficult,” he said, pointing out that Regeneron may not even exist in 50 years. “The risk of the data being hacked over such a long period of time increases,” he said.

Other doctors urged participation, noting that genetic research held much hope for developing treatments for a range of ailments. dr. Charney, who will oversee efforts to collect a million sequences, studies schizophrenia. He used the existing Mount Sinai database to search for a particular gene variant associated with a psychotic illness.

Of the three patients in the existing Mount Sinai BioMe database with that variant, only one had severe lifelong psychotic illness. “What about the genomes of these other two people that somehow protected them, or maybe it’s their environment that protected them?” he asked.

His team has started calling those patients for additional research. The plan is to take samples of their cells and use gene editing technology to study the effect of different changes on this particular genetic variant. “Essentially what we’re saying is, ‘What’s schizophrenia in a dish?'” Dr. Charney tried to answer that question, “can help you delve into what the actual disease process is.”

Wilbert Gibson, 65, is enrolled in the existing Mount Sinai genetic database. Healthy until he turned 60, his heart began to fail rapidly, but doctors initially struggled with a diagnosis. On Mount Sinai, he discovered that he suffered from cardiac amyloidosis, in which protein builds up in the heart, reducing its ability to pump blood.

He got a heart transplant. When asked if he would like to share his genome to help with the research, he was happy to do so. He became involved in genetic research that helped identify a gene variant in people of African descent linked to heart disease. Participating in medical research was the easiest decision he had to make at the time.

“If you’re in the situation I’m in and you find your heart is failing, and everything is going so fast, go ahead,” he said in an interview in which he credited the doctors at Mount Sinai for saving his life. to live. to live.

Tags: BuildDailyExpertNewsdatabaseDNAdrughospitalhugemakermoveYorkers

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