Health

Hospital and Drugmaker Move to Build Vast Database of New Yorkers’ DNA

The Mount Sinai Health System this week launched an effort to build a vast database of patient genetic information that can be studied by researchers and big pharmaceutical companies.

The goal is to find cures for diseases ranging from schizophrenia to kidney disease, but efforts to collect genetic information from many patients during routine blood draws can also raise privacy concerns. There is a possibility

Mount-Sinai said the data will be anonymized and will not be shared with anyone other than the researchers. But consumer and genealogy databases full of genetic information, such as Ancestry.com and his GEDmatch, have been used by detectives looking for genetic clues that could help solve past crimes. I was.

The sheer number of gene sequences could provide new insights into many diseases and pave the way for new treatments, say researchers at Mount Sinai. But the only way to compile these research databases is to first convince vast numbers of people to agree to have their genomes sequenced.

In addition to pursuing the next breakthrough drug, researchers will combine this database with patient medical records to help identify genetic and socioeconomic factors such as poverty and exposure to air pollution. We hope to provide new insights into how interactions affect people’s health.

“This is really transformative,” said Professor Alexander Cherney of Icahn School of Medicine, Mount Sinai, who is overseeing the project.

The healthcare system hopes to eventually amass a database of gene sequences for one million patients. This means that about 10 New York City residents include her as one. The effort was launched this week, said hospital spokeswoman Karin Eskenazi.

This is not Mount Sinai’s first attempt to build a genetics database. For about 15 years, Mount Sinai has slowly built up a bank of biological samples, a biobank. called biome Approximately 50,000 DNA sequences have been used to date. But researchers are frustrated by the slow pace, which they attribute to the cumbersome process they use to obtain consent and enroll patients. Girish Nadkarni, who leads the project with Dr. Charney of Mount Sinai, said:

Most of that consent process is halfway through.Mount Sinai abandons health investigations, boils down procedures to oversight short video Provide your signature. This week, we have started enrolling most patients who have blood tests as part of their routine care.

A number of large-scale biobank programs already exist across the country. But what the Mount Sinai Health System is building will be the first large-scale one to draw participants primarily from New York City. This program could mark a shift in how many New Yorkers think about their genetic information, from private and unknown to donated for research.

This project involves sequencing a large number of DNA samples. This work can cost tens or even hundreds of millions of dollars. To avoid that cost, Mount Sinai partnered with Regeneron, a major pharmaceutical company that does the actual sequencing work. In return, the company will have access to each participant’s genetic sequence and partial medical records, said Mount His Sinai, a doctor who heads the program. Mount Sinai plans to share the data with other researchers as well.

Mount Sinai researchers will have access to anonymized electronic medical records for each participating patient, but the data shared with Regeneron will be more limited, according to Mount Sinai. Companies have access to diagnostics, laboratory reports, and vital signs.

Combined with health records, large genetic datasets help researchers search for rare mutations that are strongly associated with, or may prevent, specific diseases.

It remains to be seen whether Mount Sinai, one of the city’s largest hospital systems, will reach its goal of enrolling one million patients in what it calls the Mount Sinai Million Health Discovery Program. I do not understand.If so, the resulting database could be one run by the U.S. Department of Veterans Affairs or the National Institutes of Health, which has a goal of eventually enrolling 1 million Americans. It will be the largest database in Japan, along with projects currently underway. much shorter.

(These two government projects involve whole-genome sequencing to reveal an individual’s complete DNA makeup. The Mount Sinai Project will do the sequencing. Approximately 1% of each individual’s genome, called the exome. )

In recent years, Regeneron, which has become widely known for its effective monoclonal antibody therapy for Covid-19, is working with approximately 2 million “patient volunteers”, mainly through collaboration with the UK health system and large biobanks. DNA was sequenced and studied. Company.

But the number of patients Mount Sinai wants to enroll, combined with the racial and ethnic diversity, and the diversity of New York City as a whole, sets it apart from most existing databases.

Dr. Aris Baras, senior vice president of Regeneron, said:

People of European descent are typically overrepresented in genomic datasets. That means, for example, the genetic tests people get for cancer risk are much more matched to the genetic mutations that are common in white cancer patients, he said.

“If you’re not of European ancestry, you’ll have less information about your variants and genes, and as a result, less access to good genetic testing,” Dr. Baras said.

With seven hospitals in New York City, the Mount Sinai Health System sees approximately 1.1 million patients annually and sees more than 3 million outpatients. Dr. Charney estimated that the hospital system draws blood from at least 300,000 patients a year, many of whom would agree to use their blood for genetic research.

The registration rate for such data collection is usually high, around 80%, he said. “So the math checks out. You should be able to get to 1 million.”

Mark Gerstein, a professor of biomedical informatics at Yale University, says there is no question that genomic datasets are driving great medical discoveries. However, he said he himself would not participate yet, and he urged people to consider whether adding his DNA to the database could one day affect his grandchildren.

“I tend to be anxious,” he said.

He said our collective knowledge of mutations and what diseases they are associated with, whether Alzheimer’s or schizophrenia, will only increase in the next few years. “If the dataset were ever leaked, that information could be used to discriminate against children or grandchildren of current participants,” said Dr. Gerstein. They could be teased or denied insurance, he added.

He said that even if data is anonymous and secure today, that could change. He pointed out that in 50 years it might not exist. “The risk of data being hacked over such a long period of time increases,” he said.

Other doctors encouraged their participation, noting that genetic research holds great promise for the development of treatments for various diseases. , studying schizophrenia. He used an existing Mount His Sinai database to search for specific genetic variants associated with psychosis.

Of the three patients in the existing Mount Sinai BioMe database with that variant, only one had lifelong severe psychiatric illness. “Was the genomes of the other two somehow protecting them, or was the environment protecting them?” he asked.

His team began calling those patients in for additional studies. The plan is to take samples of their cells and use gene-editing techniques to study the effects of different modifications to this particular gene variant. “Essentially we’re saying, ‘What is schizophrenia?

Wilbert Gibson, 65, is listed in the existing Mount Sinai genetic database. He was healthy until the age of 60, when his heart began to fail rapidly, but his doctors initially had trouble diagnosing him. At Mount Sinai, he discovered that he was suffering from cardiac amyloidosis. In cardiac amyloidosis, protein builds up in the heart, reducing its ability to pump blood.

he received a heart transplant. When asked if he would share his genome to support his research, he happily complied. He was included in an identifying genetic study. Linked genetic variants in people of African descent to heart disease. Participating in medical research was the easiest decision he faced at the time.

“When you’re in a situation like mine and you realize your heart is failing and you realize that everything is happening so fast, you go and do it. Life.

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