Genomic Research

Albert Einstein College of Medicine and the Children's Hospital at Montefiore Help Lead Genomic Study for Children Underrepresented in Research

August 8, 2017—BRONX, NY—Genomic sequencing holds tremendous potential for improving the way rare diseases are diagnosed and treated. But important questions remain unanswered, such as whether the technology improves health outcomes for patients and how to ensure that diverse populations have equal access to the benefits of genomic sequencing.

Researchers, led by Melissa Wasserstein, M.D., and John Greally, M.B., B.Ch., Ph.D., at Albert Einstein College of Medicine, the Children’s Hospital at Montefiore, the Icahn School of Medicine at Mount Sinai and the New York Genome Center will launch a major genomic research study for children of color.
Melissa Wasserstein, M.D.
Now, Albert Einstein College of Medicine and the Children’s Hospital at Montefiore, in collaboration with the Icahn School of Medicine at Mount Sinai and the New York Genome Center, will launch a major study involving 1,100 children in Harlem and the Bronx to see how well genomic sequencing works in a diverse New York City healthcare environment. The research team was awarded $13 million from the National Institutes of Health (NIH), pending available funds, for the four-year research project, titled NYCKidSeq. It is the newest member of an NIH-funded consortium called CSER2 (Clinical Sequencing Evidence-Generating Research), a national, multisite research program.

“From a research perspective, genomic sequencing is a proven although complex way to diagnose rare genetic diseases,” says Melissa Wasserstein, M.D., co-principal investigator on the grant and chief of the division of pediatric genetic medicine at CHAM and Einstein. “But we don’t know whether it’s clinically superior to standard genetic tests that typically look at far fewer genes. Will having more detailed genomic information actually result in better health for our children in the Bronx and Harlem? This study should help us answer this question.” The other principal investigators on the grant are Eimear Kenny, Ph.D., Bruce Gelb, M.D., and Carol Horowitz, M.D., all at the Icahn School of Medicine at Mount Sinai.

The research team will offer genomic sequencing to children at Montefiore and Mount Sinai suspected of having inherited neurologic disorders, primary immunodeficiencies or cardiovascular disorders. Currently, when clinicians suspect that a disease has a genetic basis, they test for a carefully chosen subset of genes. By contrast, genomic sequencing will determine the complete DNA sequence of an individual’s approximately 20,000 genes. Such testing generates a huge amount of data that is time-consuming to interpret and explain, and difficult to fit into regular clinical practice.

Use of genomic sequencing in clinics with diverse patients faces an additional hurdle: Most genomic data has come from people of European descent—and genetic variants implicated in disease among those individuals may not be relevant to people of other races and ethnic backgrounds. Expanding shared genomic data to include people of color is critical for making WGS useful for everyone.

John Greally, M.B., B.Ch., Ph.D.
John Greally, M.B., B.Ch., Ph.D.
“The world has brought its DNA to the Bronx,” says John Greally, M.B., B.Ch., Ph.D., a clinical geneticist at Montefiore and professor of genetics, of medicine and of pediatrics at Einstein, and an investigator on the grant. “We are serving one of the most diverse districts in the country, so we are perfectly positioned to help expand and improve our genomic knowledge. As the practice of personalized medicine expands, widespread use of genomic sequencing will help us provide better care and better health for all our patients—and to people around the world.”

As a unique feature, this study emphasizes communication and engagement.  The research team will seek guidance from a range of groups—from pediatricians to members of the communities in the Bronx and Harlem—on how to educate physicians to interpret and act on results and how to communicate those results to patients and their families. In addition, researchers will assess how community members perceive genomic testing—their expectations, attitudes, and how they regard the decision-making processes used by healthcare professionals.

The grant will also help researchers develop novel ways of presenting genetic information so that it’s more easily understandable for both patients and clinicians. “Ideally, we would be able to deliver test results in a visual way, as we now do with a CT scan,” Dr. Greally notes. “Those results would be interpreted by a trained clinician, who can then explain the situation to their patients, who can then be active partners in making their own health decisions.”

To that end, Dr. Greally will work with Toby Bloom, Ph.D., deputy scientific director for informatics at the New York Genome Center (NYGC), to integrate a web-based tool into participants’ electronic medical records that will allow physicians instant access to the genomic data within patients’ clinical reports. Using intuitive navigation and interactive graphics, the program will offer users the ability to drill down into the data and explore sections of the genome for research and clinical purposes.

“Will having more detailed genomic information actually result in better health for our children in the Bronx and Harlem? This study should help us answer this question.”

– Melissa Wasserstein, M.D.

Dr. Bloom’s group at the NYGC is already developing intuitive data visualization tools to study the wealth of genomic data being generated at the NYGC.  Her team, working with Dr. Greally, will turn their attention to creating a new, interactive report of genomic sequencing results that gives physicians insights into what was found.

“NYGC is now offering clinical sequencing services to healthcare organizations,” says Dr. Bloom. “This collaboration will enable us to use our strengths in data visualization to bring clinicians easier and more effective ways to use the genomic data we provide them. Sequencing people of diverse ancestry brings with it many challenges to interpretation of genomic data. We hope our contribution will help improve the understanding and use of this data by clinicians and patients.”

“Einstein and Montefiore were both established on a commitment to social justice and providing the best care for all members of society,” notes Dr. Wasserstein. “NYCKidSeq will bring the latest and best genomic resources to the Bronx, helping us fulfill our promise to our founders and our community.”