This week, Mount Sinai Health System began work to create an extensive database of patients' genetic information, the New York Times reported.

The goal is to find treatments for various diseases from schizophrenia to kidney disease. But efforts to gather genetic information about many patients collected during routine blood draws can cause privacy concerns.

The data will be anonymous. Mount Sinai said it has no intention of sharing them with anyone other than researchers. But consumer or genealogical databases, like Ancestry.com and GEDmatch, have been used by detectives in search of genetic clues. They used them to solve old crimes.

 
Researchers at Mount Sinai say that extensive sets of genetic sequences could open up new insights into many diseases, as well as pave the way for new treatments. But the only way to collect these databases is to convince a huge number of people to agree to sequencing their genomes.

Beyond finding a progressive cure, the database, combined with patients' medical records, will provide new insights into how the interaction between genetic and socioeconomic factors, such as poverty or exposure to air pollution, can affect people's health.

The health system hopes to eventually compile a database of genetic sequences for 1 million patients. That would mean including about one in every 10 New Yorkers. Hospital spokeswoman Karin Eskenazi said work began this week.

This is not Mount Sinai's first attempt to create a genetic database.
For about 15 years, Mount Sinai created a biological sample bank, or biobank, called BioMe. To date, it has about 50,000 DNA sequences. However, the researchers were disappointed with the slow pace, which they attribute to the cumbersome process for obtaining consent and registering patients. These are multiple interviews and a lengthy one-on-one conversation with a Mount Sinai employee, which sometimes lasts 20 minutes.

Much of this consent process goes by the wayside. Mount Sinai refused medical examinations and reduced the procedure to watching a short video and providing a signature. This week, they are trying to register the majority of patients who have taken blood tests as part of their treatment.

A number of major biobank programs already exist across the country. But the one that seeks to build mount Sinai health system will be the first large-scale event to be attended mostly by New Yorkers. The program may well mark a shift in how many New Yorkers relate to their genetic information, from private or unknown to something they've donated to research.

The project will involve sequencing a huge number of DNA samples.
It can cost tens or even hundreds of millions of dollars. To avoid such costs, Mount Sinai has partnered with Regeneron, a major pharmaceutical company that will conduct sequencing work. In return, the company will have access to each participant's genetic sequences and partial medical records. Mount Sinai also intends to share the data with other researchers.

While Mount Sinai researchers have access to anonymous electronic medical records of each patient involved, the data shared with Regeneron will be more limited. The company can access diagnoses, laboratory reports, and vital signs.

Combined with medical records, large genetic datasets can help researchers find rare mutations, or can protect against it.

It remains to be seen whether Mount Sinai, one of the city's largest hospital systems, will be able to meet its goal of enrolling a million patients in the program. If this happens, the resulting database will become one of the largest in the world. And in the country, along with a project underway by the U.S. Department of Veterans Affairs, as well as a project underway by the National Institutes of Health that ultimately targets 1 million Americans.

These two government projects involve whole-genome sequencing, which reveals the full composition of human DNA. The Mount Sinai project will sequence about 1 percent of each person's genome, called an exome.

The Geisinger Health System in northeastern Pennsylvania has also created a database of more than 185,000 DNA sequences in partnership with Regeneron.
This database has played a role in the discovery of mutations that may protect against obesity and fatty liver disease.

Regeneron, which in recent years has become widely known for its effective treatment of Covid-19 with monoclonal antibodies, has sequenced and studied the DNA of approximately 2 million volunteer patients. According to the company, mainly thanks to cooperation with health systems and a large biobank in the UK.

But the number of patients For which Mount Sinai hopes to enroll, combined with their racial and ethnic diversity, as well as the diversity of New York City as a whole, will make it stand out from most existing databases.

"The scale and type of discoveries we will all be able to make are very different from what has been possible so far in conducting research," said Dr. Aris Baras, Senior Vice President of Regeneron.

According to Dr. Baras, people of European descent tend to be overrepresented in genomic datasets. This means that the genetic tests people receive for cancer risk are much more adapted to the genetic variants that are common among white cancer patients.

"If you are not of European origin, then there will be less information about variants and genes. And as a result, you won't get that good genetic test," Dr. Baras said.

Mount Sinai's healthcare system, which has seven hospitals in New York City, receives about 1.1 million patients a year and serves more than 3 million outpatient visits to doctor's offices. Dr. Charney estimates that the hospital system draws blood from at least 300,000 patients each year. And he expects many of them to agree to the use of their blood for genetic research.

According to him, the level of coverage of such data collection is usually high - about 80 percent.

Mark Gerstein, a professor of biomedical informatics at Yale University, said there is no doubt that genomic datasets are the driving force behind great medical discoveries.

But he said he would still not participate in it. And he urged people to consider whether adding their DNA to the database could ever affect their grandchildren.
"I'm a little bit concerned about that," he said.

According to him, our collective knowledge about mutations and what diseases they are associated with – whether it is Alzheimer's disease or schizophrenia – will only increase in the coming years. "If there is ever a data breach, this information could be used to discriminate against the children or grandchildren of current participants," Dr. Gerstein said. He added that they could be teased or denied insurance.

He noted that even if the data were anonymous and secure, that could change. "Protecting information over long periods of time becomes much more difficult," he said. And he noted that Regeneron may not even exist in 50 years. "The risk of data breaches over such a long period of time is increasing," he said.

Other doctors have called for participation. And they noted that genetic research gives great hope for the development of treatments for a number of diseases.
Dr. Charney, who will lead the effort to collect a million sequences, studies schizophrenia. He used mount Sinai's existing database to find a specific gene variant associated with psychotic illness.

Of the three patients in the existing Mount Sinai biome database with this variant, only one had severe lifelong mental illness. "What is it about the genomes of these other two people that has somehow protected them? Or maybe they were protected by the environment?" he asked.

His team began calling these patients in for more research. The plan is to take samples of their cells. And then use gene editing technology to study the effects of different changes on this particular genetic variant.Dr. Charney said, "This could help sort out what the real disease process is."

Wilbert Gibson, 65, is listed in mount Sinai's existing genetic database.
Being healthy until he was 60 years old. His heart began to fail quickly, doctors struggled with the diagnosis. At Mount Sinai, he discovered that he suffered from cardiac amyloidosis, in which a protein builds up in the heart that reduces its ability to pump blood.

He had a heart transplant. When asked if he would share his genome to help the research, he happily agreed. It has been included in genetic studies that have helped identify a gene variant in people of African descent associated with heart disease. Participating in medical research was the easiest decision he faced at the time.

"When you're in a situation that I'm in and you find your heart failing, you go and do it," he said in an interview. He credited Mount Sinai doctors with saving his life.