Mount Sinai Health System this week began an effort to build a massive database of patient genetic information that could be studied by researchers — and a large pharmaceutical company.
The goal is to discover treatments for diseases ranging from schizophrenia to kidney disease, but attempts to collect genetic information for the many patients collected during routine blood draws could also raise privacy concerns.
The data will be anonymized, and Mount Sinai said it had no intention of sharing it with anyone other than the researchers. But consumer or genealogy databases filled with genetic information, such as Ancestry.com and GEDmatch, have been used by detectives to find genetic clues that could help them solve old crimes.
Mount Sinai researchers say the vast set of genetic sequences could open up new insights into many diseases and pave the way for new treatments. But the only way to compile those research databases is to first persuade large numbers of people to agree to have their genomes sequenced.
Beyond chasing the next breakthrough medicine, the researchers hope that the database, when combined with patient medical records, will provide new insights into the interplay between genetic and socio-economic factors — such as poverty or wind. Exposure to pollution – how it can affect people’s health.
“It’s really transformative,” said Professor Alexander Charney of the Icahn School of Medicine at Mount Sinai, who is overseeing the project.
The health system eventually hopes to amass a database of genetic sequences for 1 million patients, which is meant to include about one in every 10 New York City residents. The effort began this week, said Karin Eskenazi, a spokeswoman for the hospital.
This is not the first attempt at creating a genetics database of Mount Sinai. For nearly 15 years, Mount Sinai has been slowly building up a bank of biological samples, or biobanks, called biome, with about 50,000 DNA sequences so far. However, researchers have been disappointed with the slow pace they attribute to the cumbersome process they used to obtain consent and enroll patients: multiple surveys, and one-on-one interactions with Mount Sinai staff. Long discussions that sometimes last 20 minutes, according to Dr. Girish Nadkarni of Mount Sinai, who is leading the project along with Dr. Charney.
Much of that consent process is going sideways. Mount Sinai has called off health surveys and boiled down the process to watching a short video and providing signatures. This week it began attempting to enroll the majority of patients who were receiving blood tests as part of their routine care.
Several large biobank programs already exist across the country. But what Mount Sinai Health System is trying to build will be the first large-scale one to draw participants primarily from New York City. The program may well mark a shift in how many New Yorkers think about their genetic information, from something private or unknown to something they’ve donated to research.
The project would involve sequencing a large number of DNA samples, an undertaking that could cost tens or hundreds of millions of dollars. To avoid that cost, Mount Sinai has partnered with Regeneron, a large pharmaceutical company, to do the actual sequencing work. In return, the company will gain access to each participant’s genetic sequence and partial medical records, according to Mount Sinai doctors leading the program. Mount Sinai also intends to share the data with other researchers.
Although Mount Sinai researchers have access to the anonymized electronic health records of each participating patient, the data shared with Regeneron will be more limited, according to Mount Sinai. The company can access diagnostics, lab reports and vital signs.
When combined with health records, large genetic datasets can help researchers discover rare mutations that are either closely related to, or harbored by, a certain disease.
It remains to be seen whether one of the city’s largest hospital systems can reach its goal of enrolling one million patients in the Mount Sinai program, which the hospital is calling the “Mount Sinai Million Health Discovery Program.” If it does, the resulting database will be one of the largest in the country, along with a project run by the U.S. Department of Veterans Affairs, as well as a project run by the National Institutes of Health that ultimately aims to enroll 1 million Americans. , although it is currently very small.
(Those two government projects include whole-genome sequencing, which reveals a person’s complete DNA makeup; the Mount Sinai project will sequence about 1 percent of each person’s genome, called the exome.)
Regeneron, widely known in recent years for its effective monoclonal antibody treatment for COVID-19, has sequenced and studied the DNA of nearly 2 million “patient volunteers”, mainly in collaboration with health systems. And according to a large biobank in the UK. company.
But the number of patients Mount Sinai hopes enrollment — along with their racial and ethnic diversity, and New York City’s in general — will set it apart from most existing databases.
“The scale and type of discoveries we will all be able to make is very different from what has been possible to date,” said Dr. Aris Baras, a senior vice president at Regeneron.
Dr Baras said people of European ancestry are generally over-represented in genomic datasets, which means, for example, that people get genetic tests for cancer risk that are common in white cancer patients.
“If you are not of European ancestry, less is known about the variants and genes and as a result you will not get a good genetic test,” Dr. Baras said.
Mount Sinai Health System, which has seven hospitals in New York City, sees about 1.1 million individual patients a year and 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 annually, and he expected many of them to agree to have their blood used for genetic research.
He said the enrollment rate for such data collection is usually high – around 80 per cent. “So the math checks out. We should be able to get to a million.”
Mark Gerstein, professor of biomedical informatics at Yale University, said there was no question that genomic datasets were driving great medical discoveries. But he said he still wouldn’t participate in one himself, and urged people to consider whether adding his DNA to a database might someday affect his grandchildren.
“I become a concern,” he said.
He said that our collective knowledge of mutations and what diseases they are associated with – whether Alzheimer’s or schizophrenia – will only increase in the coming years. “If the datasets are leaked someday, the information could be used to discriminate against the children or grandchildren of current participants,” said Dr. Gerstein said. They could be teased or denied insurance, he said.
He added that even if data is anonymous and secure today, that could change. “It makes it very difficult to keep information secure over the long term,” he said, noting that Regeneron may not even exist in 50 years. “In such a long period the risk of data being hacked increases,” he said.
Other doctors urged participation, taking into account genetic research, offering much hope for developing treatments for a range of malformations. Dr. Charney, who will oversee the effort to collect a million sequences, studies schizophrenia. They have used existing databases at Mount Sinai to search for a particular gene variant associated with mental illness.
Only one in three patients in the current Mount Sinai Biomy Database with that variant had severe lifelong mental illness. “What is it about the genomes of these two other 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. There are plans to take samples of their cells and use gene-editing techniques to study the effect of various changes in this particular genetic variant. “Essentially what we are saying is: ‘What is schizophrenia in a dish?'” Attempting to answer that question, Dr. Charney said, “What the actual disease process is can help you on Is.”
Wilbert Gibson, 65, is enrolled in Mount Sinai’s existing genetic database. His heart began to fail rapidly until he reached 60, but doctors initially struggled with a diagnosis. At Mount Sinai, he discovered that he suffered from cardiac amyloidosis, in which proteins build up in the heart, reducing its ability to pump blood.
He had a heart transplant. When asked if he would share his genome to help with research, he was happy to oblige. He was involved in genetics research that helped identify a gene variant in people of African descent associated with heart disease. Participating in medical research was the easiest decision at the time.
“When you’re in the situation I’m in and find that your heart is failing, and everything is happening so fast, you go and do it,” he said in an interview at Sinai Credited the doctors on the mountain for protecting him. Life
(This story has not been edited by seemayo staff and is published from a rss feed)