Genetic research holds incredible promise for driving medicine forward. Researchers hope that this approach will replace traditional trial-and-error in creating treatment and prevention strategies that precisely target an individual’s genetic risk. Genetic tests can already reveal if those with a family history of some cancers are at high risk themselves so they can reduce their risk if necessary. And genetically testing biopsied cells of certain cancers can help clinicians identify the most effective treatment.
Unfortunately, genetic research overwhelmingly skews toward people of European descent. That matters because a medical discovery based on this population may not apply equally to people with African, Pacific Islander or other ancestry, and vice versa.
“The lack of diversity in genetic research is a scientific and a moral problem,” said Peter Gregersen, MD, director of the Robert S. Boas Center for Genomics & Human Genetics at the Feinstein Institutes for Medical Research. “It limits our ability to make important discoveries, because we’re only looking at a portion of the human community. And it threatens to worsen health disparities by creating a future where precision medicine benefits only the privileged few.”
One way that Northwell Health is working to address this issue is with a study called MapYourHealth. This study is investigating how an individual’s genetic make-up, lifestyle (such as diet and exercise) and environmental exposures (such as to pollution, pesticides or other chemicals) can interact to lead to health or disease. The hope is to tap into the vast diversity of the health system’s patient population.
“We are situated in one of the richest melting pots in the world,” said Dr. Gregersen, who leads the study. “In Queens alone, you can hear more than 130 languages. So just by partnering with our patients in MapYourHealth, we can develop a much broader, more accurate understanding of the way genes, lifestyle and environment interact than has been possible before.”
Participating is simple. MapYourHealth volunteers give a blood sample, which researchers use to create a detailed genetic profile. They also allow the research team to access their medical records, which can hold years of information on their medical history, lifestyle and environmental exposures. In addition,they give the MapYourHealth team permission to use any samples that are collected as part of their medical care that would otherwise be thrown out. For example, if a MapYourHealth volunteer develops a liver problem and needs a biopsy, the researchers can collect cells that are left over after tests are completed.
“That opens up all kinds of possibilities,” said Dorean Flores, project manager at the Feinstein Institutes.“We can expose the cells to different stressors—such as chemicals a person might encounter in the environment—or to potential treatments, and see if they multiply or regress. So we may be able to get a good idea of helpful lifestyle changes or treatments in the laboratory, without having to expose the patient to anything at all.”
Volunteers also allow the MapYourHealth team to contact them in the future if their genetic profile and other information indicate that they may be a good candidate for more in-depth research. This call-back option will make it possible for scientists to study therapies likely to be effective only in people with specific genetic make-ups—research that can otherwise be cost-prohibitive.
As a bonus, every participant in MapYourHealth can receive a free report on their genetic ancestry from FamilyTreeDNA, a leader in the field of genetic genealogy.
A beta test of MapYourHealth launched last November with outreach to Northwell employees and enrollment of patients is ramping up now. Dr. Gregersen and his team hope to enroll 5,000 patients by the end of 2020. The ultimate goal is to attract 500,000 participants.
Ms. Flores speaks frequently to community groups about the design and aims of MapYourHealth. She knows that some people have concerns about participating because of past research abuses such as the Tuskegee syphilis study, so she stresses that volunteers are in charge and can choose to stop participating at any point.
All information gathered from participants is confidential and completely de-identified before it’s shared with researchers.
But the theme she returns to is the promise of precision medicine, and how important it is that every group be able to take advantage of it.
“The drugs and devices we’re able to use today for our health are the result of decades of research,” she said. “Tomorrow’s treatments and therapies are going to be even more effective, and they’re going to be built on genetic research. We want to make sure that every community’s children and grand children can benefit. MapYourHealth is designed to make sure no population is left behind.”