Sharing genetic information with research participants in the Project Baseline Health Study
Genetic research is focused on pinpointing the slight variations in DNA that can cause serious, even life-threatening disorders. There are more than 6,000 known genetic disorders today, and we're just at the beginning of understanding the complex interplay of genes, environment, and lifestyle on human health.
By collecting in-depth data from diverse individuals over time, the Project Baseline Health Study aims to precisely define the "baseline" of good health. Equally important, Project Baseline is focused on approaching the practice of science in a new way, sharing the results of research with individual participants. This month, in partnership with Color, Project Baseline is returning genetic information to Health Study participants interested in learning more about their inherited risk for heart disease, certain cancers, and how they may respond to medications. Through a simple, non-invasive saliva test, participants can learn about their genes – one of the top-requested areas for receiving personal results – without the need to travel to a lab.
"Genetics are an important way that we understand disease risk, and it's critical to the Health Study to look at data on many biological levels," said Dr. Megan Rothney, program manager of the Project Baseline Health Study. "By bringing this information together with other health data, we can better understand how genetics may relate to lifestyle and other risk factors. So this is another layer we can use to build a detailed map of human health."
Beyond research, context is also helpful for understanding the impact of genetics on an individual's overall health. While consumer demand for genetic information is growing, it's important to note that genetic risk alone is not necessarily a predictor of developing a condition. When viewed side-by-side with other risk factors, genetics can enable precision medicine: a personalized care plan tailored to each person's unique medical history.
"Precision medicine involves finely tuning treatment based on a comprehensive view of a person. For example, say you don't show any of the traditional risk factors for heart disease, but your doctor knows you have a genetic predisposition," continued Rothney. "With a holistic view of your profile, including genetics, your providers could give you a different set of dietary and lifestyle recommendations than they might to someone who looks the same – but doesn't have your genetic risks."
The promise of personalized medicine is a result of tremendous advancements in gene sequencing, or the ability to "decode" DNA to understand its makeup and identify variations from the norm that may cause disease. Fully capitalizing on this promise requires that progress in technology is complemented by more diverse study populations. "Diseases manifest in many ways, and you need a lot of different people in order to see those patterns," said Rothney. "With breast cancer, for instance, based on markers like estrogen, progesterone, and HER2 receptors, we can identify three populations that vary based on risk and therapies they respond to. The more diversity we have in research, the more finely we can define a type of disease and the more targeted we can get with treatment."
Classifying the variants – more commonly known as mutations – that can lead to disease hinges on including different ancestry groups in genetic analysis, noted Robert Green, geneticist and Professor of Medicine at Harvard Medical School. "If we don't have access to information from a diverse set of participants we may make misclassifications of variants. Additionally on a societal level, it's important that participation in research, and the benefits associated with it, not be restricted to any one group – be it geographical, ethnic, or socioeconomic."
When it comes to sharing results of research with participants, researchers are responsible for clearly distinguishing clinically relevant results from other study data. "Returning results in the research world is complex because researchers are gathering different sets of data," said Green, a member of Project Baseline's Return of Results committee. "This includes measures that have been clinically established as important for health, information where there is some evidence but no scientific consensus on what it means, and areas that are purely exploratory – meaning we're gathering information to understand their impact on health. To ethically return results, researchers need to define the categories that are proven to matter for health and note if any data is not clinical best practice."
Within the Health Study, the return of genetic information follows the release of physical performance information in Fitness Reports earlier this year. "Project Baseline takes a thoughtful approach to returning results that has grown and evolved over the course of the Health Study," says Rothney. "Of the many considerations involved with sharing data, the highest priority is returning information that may have an immediate impact on health. From the outset of the study, significant medical findings have been shared with participants so they can discuss an action plan with their clinician. We look forward to returning even more individual results – and research findings from the study – with our participants as the initiative continues."