Hunting the missing health link

October 5, 2010 By Alvin Powell, Harvard University
Thomas W. Smith Professor of Medicine Christine Seidman (in red) and Associate Professor of Medicine Elizabeth Karlson (far right), co-authors of a study called OurGenes, OurHealth, OurCommunity, eventually want to enroll 100,000 patients in a lengthy, longitudinal study of the causes of illness, which could help link genetic background to lifestyle and environmental factors. Jon Chase

Researchers at Harvard-affiliated Brigham and Women's Hospital and Harvard Medical School have embarked on an ambitious study of the link among genetics, lifestyle, environment, and health that organizers hope will set the stage for a new generation of personalized disease analysis and medical care.

The study, called OurGenes, OurHealth, OurCommunity, eventually wants to enroll 100,000 in a lengthy, of the causes of illness that could help link background to lifestyle and .

The study stands on three key parts: patients’ health backgrounds, which are provided to researchers through existing health records, family histories, and medical questionnaires; their genetic profiles, which are provided through blood samples; and their health futures, which are mapped through access to clinical data as it accumulates.

Christine Seidman, the study’s co-principal investigator, the Thomas W. Smith Professor of Medicine and professor of genetics at Harvard Medical School, and director of the Brigham’s Cardiovascular Genetics Center, said she views the study as a community effort in which Brigham medical workers and patients come together to help realize the promise of advances that have been made in recent years in understanding genes.

The study, which is in an initial, yearlong pilot phase, is enrolling patients at six Brigham-affiliated sites. Because of the consent, family history, and questionnaire process, she said the OurGenes staff is using the trial period to ensure that data gathering does not interfere with the clinical purpose of patient visits and also to make sure the enrollment process itself is capturing the diversity of patients.

So far, Seidman said, about 100 people have enrolled in the study. The participation rate is about 70 percent of those approached and asked if they’re interested. Instead of waiting for patients to come to the hospitals or clinics, Seidman said, patients with appointments are mailed information a couple of weeks in advance of their appointments so they are aware of the study before being asked to participate. The information that is collected will be kept private.

Seidman said healthy patients are as important to the study as people with medical conditions. Those with one condition can be part of a control population for studies that look at others. “If you’re perfectly healthy, you’re as valuable to us as someone with a devastating condition,” Seidman said. “We all have risk for some disease and less risk for others.”

Seidman sees the study as long running, since it will take years to get the patient population enrolled, and the plan is to follow patients through time and monitor health outcomes. The study will gather information on topics as diverse as patients’ smoking history, their exercise practices, sun exposure, and even where they grew up. Examples of questions that researchers are hoping to answer include whether specific genes, in combination with certain lifestyle or environmental factors, lead to greater health risks and whether certain drugs lead to adverse reactions in patients with specific genetic profiles. Though the study was launched only in June, researchers are already expressing interest in identifying a patient population that is taking statins, the popular cholesterol-lowering drug.

The accumulated health data, when combined with stored blood samples for genetic analysis, will also aid future researchers, who will be able to begin studies quickly and more efficiently than if they had to begin recruiting subjects from scratch, Seidman said.

Though other studies have been conducted examining the of disease, most of those have been aimed at specific ailments, specific populations, or specific genes. OurGenes is one of the first to examine such a large, diverse population for broad health and genetic trends.

Related Stories

Recommended for you

New software helps detect adaptive genetic mutations

February 20, 2018
Researchers from Brown University have developed a new method for sifting through genomic data in search of genetic variants that have helped populations adapt to their environments. The technique, dubbed SWIF(r), could be ...

New algorithm can pinpoint mutations favored by natural selection in large sections of the human genome

February 20, 2018
A team of scientists has developed an algorithm that can accurately pinpoint, in large regions of the human genome, mutations favored by natural selection. The finding provides deeper insight into how evolution works, and ...

15 new genes identified that shape human faces

February 20, 2018
Researchers from KU Leuven (Belgium) and the universities of Pittsburgh, Stanford, and Penn State have identified 15 genes that determine facial features. The findings were published in Nature Genetics.

Highly mutated protein in skin cancer plays central role in skin cell renewal

February 20, 2018
Approximately once a month, our skin completely renews itself. If this highly coordinated process goes awry, it can lead to a variety of skin diseases, ranging from skin cancer to psoriasis. Cells lining such organs as skin ...

Study of smoking and genetics illuminates complexities of blood pressure

February 15, 2018
Analyzing the genetics and smoking habits of more than half a million people has shed new light on the complexities of controlling blood pressure, according to a study led by researchers at Washington University School of ...

New mutation linked to ovarian cancer can be passed down through dad

February 15, 2018
A newly identified mutation, passed down through the X-chromosome, is linked to earlier onset of ovarian cancer in women and prostate cancer in father and sons. Kunle Odunsi, Kevin H. Eng and colleagues at Roswell Park Comprehensive ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.