NEW YORK (GenomeWeb) –The 40,000 Nevadans who consent to join the Healthy Nevada Project will have their exomes sequenced by personal genomics firm Helix, but they will also have the option of choosing a digital genomics app from Helix's online marketplace for free.
This choice, said Helix co-founder Justin Kao, is important for engaging participants in research, and improving their acceptance and understanding of genomics.
Renown Health, a healthcare network that serves Nevada, Lake Tahoe, and northern California, and the Desert Research Institute, a firm studying environmental changes, launched the Healthy Nevada Project in 2016 to study the health determinants of the local population in northern Nevada. Renown and DRI established Renown Institute for Health Innovation, which is building a large repository of the clinical, genetic, environmental, and socioeconomic data collected from study participants.
During the project's initial phase, Renown and DRI enrolled 10,000 participants who submitted their DNA sample for genotyping by consumer genomics firm 23andMe. Renown and DRI have decided to add another 40,000 participants and sequence their exomes through Helix.
The company last year launched a genomics marketplace where consumers can get their exome sequenced through the company then order online applications that analyze that raw data in different contexts such as ancestry, fitness, nutrition, weight loss, family planning, and disease risk assessment. Its involvement in the Healthy Nevada Project opens up the opportunity for study participants to become paying Helix customers.
After being sequenced and trying out the initial free app for volunteering in the Healthy Nevada Project, participants will have a Helix account, and could then purchase additional apps and further explore their genomic data based on their interests. "Some people will choose ancestry and some people may choose other things," Kao said. "But it's key to have that choice."
It's quite common in the traditional research setting to have consent policies where participants don't learn anything about the data collected on them. This model, where participants have the chance to learn something about themselves for volunteering their time in research, started with 23andMe's launch of its Genotyping Services for Research platform. After piloting this program for some time, 23andMe launched this service in 2016 to simplify the process of integrating genetic data into IRB-approved studies and incentivizing participation in research.
In exchange for their participation, study volunteers would get free access to 23andMe's test reports on ancestry, traits, wellness, and carrier status — the same genotyping service for which its customers typically pay $199. The company last year received the green light from the US Food and Drug Administration to begin including certain genetic health risk reports within its service.
Using this model, the enrollment effort within the Healthy Nevada Project was rapid and participant interest was so high in the pilot phase, that Renown and DRI decided to double the number of enrollees after the initial 5,000 participants signed up in less than 24 hours. DNA sample collection from all 10,000 participants was completed within 60 working days.
"Surpassing the enrollment goal in less than 24 hours is unheard of in research studies," 23andMe CEO Anne Wojcicki said in a statement at the time. "Treating people like partners in research and returning information back to participants is an incredible tool for driving participation and engagement."
23andMe's consumer genetic testing service uses genotyping, and while the company last year said it didn't have near term plans to launch a sequencing-based commercial offering, it has conducted sequencing-based research projects. "At the current costs of genotyping, whole exome, and whole genome sequencing, we believe broad genotyping with sequencing used for targeted groups is the best approach for large population studies," said Emily Drabant Conley, 23andMe's VP of business development.
Exome sequencing also yields much more data than genotyping does, and while Renown and DRI wanted to return results to participants, they wanted to be careful about providing unwanted or incidental findings. The collaboration with Helix offered a creative solution that puts the decision in the hands of the participant. "The app store allows the individual to decide what they're comfortable with," said Joseph Grzymski, principal investigator of the project.
Some want to explore the more entertaining aspects of genetic testing, while others want to dig into their health questions. "By engaging the population the way we're doing it, we can take a responsible approach," he said.
Within the project, Slonim said the aim is to not just learn about the health determinants of Nevadans but also to figure out how to drive population-based genomic testing within a community, to engage consumers in their healthcare, and to improve consumer understanding of genomics. These early learnings from the pilot project will be published but for the time being the Health Nevada Project features participants' stories about what they've learned after joining the effort.
For example, Connie Wray, a local early morning radio show host, learned based on her DNA test results that she was less likely to be a deep sleeper. Although this is something she already knew about herself and was trying different strategies like reducing screen time before bed, the genetic test results really drove the message home. "To see it in your DNA results and have those results scientifically say you have a hard time getting to sleep, and a good night’s sleep is a very important factor to your health ... I am absolutely taking it more seriously now," Wray said.
Heather Toepfer, who had been battling lung infections, learned from her 23andMe test results that she could possibly have alpha-1 antitrypsin deficiency. Subsequent tests confirmed that she did have this genetic disorder, caused by the lack of a protein produced in the liver that protects the lung from infections. Following this diagnosis, Toepfer is receiving weekly infusions and her health is slowly improving.
Caroline Moassessi said that the genetic test results indicated she was predisposed to weigh more than average, and suggested she cut back on red meat and foods high in saturated fats. She made an appointment with her doctor to discuss her weight and came up with an exercise and diet plan. Six months later, she said she's continuing to shed pounds, sleeping better, and feels like "she's on the path to sustained good health."
Despite these positive testimonies, providing genetic test results directly to consumers has been controversial because studies have shown that in many cases it fails to change behavior. Moreover, others have pointed out that the genetic markers consumer genomics firms use to provide advice about complex diseases and wellness account for only a small portion of the risk.
Still, it appears Nevadans who have joined the Healthy Nevada Project appreciate the opportunity to get genetic test results. Out of the 10,000 enrollees so far, six have asked to be removed from the study, said Grzymski. "That number to my mind is unbelievable," he said, noting that in consenting for the study, each participant spoke to a trained research coordinator who answered their questions.
Renown also employs genetic counselors for participants that need help understanding their results, has clinical geneticists on staff, and provides genetics-related continuing medical education for physicians. "There's a lot of work that's gone on behind the scenes to make sure we have the proper community-based infrastructure to deal with people's questions as they came up in their primary care office and beyond," Slonim said.
A lot of the research questions the project will focus on will be around lifestyle-related diseases impacting the local population. For example, northern Nevada has a large rural population with limited healthcare access and a high incidence of cardiovascular disease.
"We've really focused our health determinants platform on behavior, and why John Doe or Jane Doe ends up at Renown from their rural farm with a major cardiac event," Grzymski said, noting that researchers may be able to use the genetic and environmental data collected through the project to develop polygenic risk tests that can help nudge people toward healthier behaviors.
Helix will store participants' exome sequencing data. Based on researchers' interest investigating a specific question or a particular segment of the community, such as the Native American population, they can access portions of the data with Helix's help for deeper analysis.
Renown and DRI are hoping to reach "critical mass" in this next phase. The population in northern Nevada is approximately 500,000 people, and when enrollment reaches 50,000 "that will bring us to about 10 percent of the population that will be [genetically] tested," Slonim said. "We'll start to achieve statistical significance in some our inferences, and that's really important as we start to understand the health and healthcare needs of our community."