Mount Sinai Health System began an effort this week to build a huge database of patients’ genetic information that can be studied by researchers – and by a pharmaceutical company. big product.
The goal is to find a cure for conditions ranging from schizophrenia to kidney disease, but the effort to collect the genetic information of many patients, gathered during routine blood draws, can also cause problems. privacy concerns.
The data will be anonymized, and Mount Sinai says it has no intention of sharing it with anyone other than researchers. But consumer or genealogical databases filled with genetic information, such as Ancestry.com and GEDmatch, have been used by detectives to search for genetic clues that could help them solve problems. old crime.
Researchers at Mount Sinai say multiple sets of gene sequences can open up new insights into a variety of diseases and also pave the way to new treatments. But the only way to compile such research databases is to first convince a large number of people to agree to have their genomes sequenced.
In addition to pursuing the next breakthrough drug, the researchers hope the database, when combined with patient medical records, will provide new insights into the interplay of factors. How genetics and socioeconomics – such as poverty or exposure to air pollution – can affect human health.
“This is really transformative,” said Alexander Charney, a professor at the Icahn School of Medicine at Mount Sinai who is overseeing the project.
The health system hopes to eventually amass a database of gene sequences for 1 million patients, that is, one in 10 New York City residents. Hospital spokesman Karin Eskenazi said the effort began this week.
This is not Mount Sinai’s first attempt at building a genetic database. Over about 15 years, Mount Sinai has slowly built up a biological sample bank, or biobank, called BioMe, with about 50,000 DNA sequences to date. However, the researchers have been frustrated with the slow pace, which they say is a cumbersome process they use to obtain informed consent and enroll patients: numerous surveys and private discussions. lasting with a Mount Sinai staff member, sometimes as long as 20 minutes, according to Dr Girish Nadkarni of Mount Sinai, who is leading the project with Dr. Charney.
Most of that consent is going the other way. Mount Sinai canceled the health investigations and began the process of watching a short video and providing signatures. This week, it began trying to enroll most of the patients who were getting blood tests as part of their routine care.
Several major biobanking programs already exist around the country. But the health system Mount Sinai is looking to build will be the first large-scale facility to attract participants primarily from New York City. The program could mark a shift in the way many New Yorkers think about their genetic information, from something private or unknown to something they’ve donated to research.
The project will involve sequencing a large number of DNA samples, a task that could cost tens or even 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 get access to gene sequencing and part of each participant’s medical records, according to the Mount Sinai doctors leading the program. Mount Sinai also intends to share the data with other researchers.
While Mount Sinai researchers have access to anonymized electronic health records of each participating patient, the data shared with Regeneron will be more limited, according to Mount Sinai. The company has access to diagnostics, lab reports and vital signs.
When paired with health records, large genetic data sets can help researchers look for rare mutations that have a strong association with a certain disease or may protect against it.
It remains to be seen whether Mount Sinai, one of the city’s largest hospital systems, can achieve its goal of attracting one million patients to the program, which the hospital calls its “‘Discovery Program’. health of millions on Mount Sinai”. If so, the results database would be one of the largest in the country, along with one run by the U.S. Department of Veterans Affairs as well as a project led by the National Institutes of Health. with the ultimate goal of attracting 1 million Americans. it is still very short.
(Two government projects involve whole-genome sequencing, which shows an individual’s complete DNA makeup; the Mount Sinai project will sequence about 1% of each individual’s genome, known as exome.)
Regeneron, widely known in recent years for its effective monoclonal antibody treatment for Covid-19, has sequenced and studied the DNA of about 2 million “volunteer patients”, mainly through through a partnership with health systems and a major biobank in the UK, according to the company.
But the number of patients Mount Sinai hopes to enroll – along with its racial and ethnic diversity, and that of New York City as a whole – will set it apart from most facilities. existing data.
“The scale and type of discovery we’ve all been able to make is different from what’s possible until today with small studies,” said Dr. Aris Baras, senior vice president at Regeneron. than”.
People of European ancestry are often overrepresented in genomic data sets, says Dr. Baras, meaning that the genetic tests people receive for cancer risk are much more consistent with Common genetic variants in Caucasian cancer patients, Dr. Baras said.
“If you’re not of European ancestry, there’s less information about the variants and genes and you won’t get as good a genetic test result,” says Dr. Baras.
Mount Sinai Health System, which has seven hospitals in New York City, sees approximately 1.1 million patients each year and handles more than 3 million outpatient visits to physician offices. Dr Charney estimates that the hospital system is drawing blood from at least 300,000 patients annually, and he hopes many of them will agree to use their blood for genetic research.
Sign-up rates for such data collection are typically high — around 80 percent, he said. “So math tests. We will be able to reach a million. “
Mark Gerstein, a professor of Biomedical Informatics at Yale University, says there’s no doubt that genomic data sets are driving amazing medical discoveries. But he said he still wouldn’t join in on his own, and he urged people to consider whether adding their DNA to the database could one day affect their grandchildren.
“I tend to be more nervous,” he says.
Our general knowledge of mutations and the diseases associated with them – whether Alzheimer’s disease or schizophrenia – will only increase in the coming years, he said. “If one day the dataset is leaked, the information could be used to discriminate against the children or grandchildren of current participants,” Dr. They may be teased or denied coverage, he added.
He notes that even if data is anonymized and secure today, that could change. “Securing information in the long run is much harder,” he said, noting that Regeneron may not even be around for another 50 years. “The risk of data being hacked over such a long period of time becomes greater,” he said.
Other doctors called for participation, noting that genetic research holds great hope for developing treatments for a range of diseases. Dr. Charney, who will oversee the effort to accumulate millions of sequences, research schizophrenia. He used Mount Sinai’s existing database to look for a specific gene variant that has been linked to mental illness.
Of the three patients in the existing Mount Sinai BioMe database with that variant, only one suffered lifelong severe mental illness. “What about the other two’s genomes protected them somehow, or could it be their environment that protected them?” he asks.
His team has already begun calling those patients in for further study. The plan is to sample their cells and use gene-editing technology to study the effects of different changes on this particular genetic variant. “Basically what we’re saying is: ‘What’s schizophrenia in a dish? “Trying to answer that question, says Dr. Charney, “can help you hone in on what the disease process really is. “
Wilbert Gibson, 65, was enrolled in Mount Sinai’s existing genetic database. He remained healthy until the age of 60, when his heart began to rapidly fail, but doctors initially struggled with a diagnosis. At Mount Sinai, he discovered he had cardiac amyloidosis, in which proteins build up in the heart, reducing its ability to pump blood.
He has had a heart transplant. When asked if he would share his genome to help with research, he was happy to be asked. He was included in a genetics study that helped identify a gene variant in people of African descent that was linked to heart disease. Participating in medical research was the easiest decision he faced at the time.
“When you’re in the situation I’m in and you find your heart stops beating, and everything is going so fast, you do it,” he said in an interview in which he noted the The doctor at Mount Sinai saved him. life.