The 'democratization' of genetic research

23andMe, PatientsLikeMe team up to study Parkinson's disease, pursue personal genetics

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MOUNTAIN VIEW, Calif.—Personal genomics company 23andMe has teamed up with PatientsLikeMe, an online patient community and platform for collecting and sharing patient data, on a large-scale genetic study of Parkinson's disease, the companies announced in June.

The study, which seeks to recruit 10,000 people with Parkinson's to share and compare information about their symptoms, progression and treatment, aims to find genetic and environmental modifiers to Parkinson's, its symptoms and progression, as well as the effectiveness of different treatments. Ultimately, the data collected from patients will be used to evaluate the effects of genetics on variation in the Parkinson's population, but the companies have another, more patient-centric goal they would like to achieve.

"This is part of a movement I like to call the 'democratization' of genetic research," says Lizzie Dorfman, 23andMe's alliance manager. "We want to empower patients to make decisions about their healthcare, research and personal genetics."

James Heywood, co-founder and chairman of Cambridge, Mass.-based PatientsLikeMe, points out that technology is also moving faster than the research establishment.

"We are excited to see what happens when you give patients the ability to see variations of their disease and compare it to their own, while enabling them to easily define their personal genomics," Heywood says.

23andMe is already working with two non-profit research groups, the Parkinson's Institute in Sunnyvale, Calif., and the Michael J. Fox Foundation, to design and validate Web-based clinical assessment tools and establish a social networking platform to facilitate the development of communities and research projects to find common traits in Parkinson's patients. Seeking to leverage the power of the Internet to accelerate progress in understanding and treating the disease—a challenge given the age demographics of this patient population—the Silicon Valley start-up tapped the services of PatientsLikeMe, an online health community for patients with difficult-to-treat conditions like Parkinson's, as well diseases like ALS, multiple sclerosis, HIV, mood conditions and fibromyalgia.

PatientsLikeMe evolved from Heywood's personal experience of caring for his brother Stephen, who was diagnosed with ALS in 1998. As the Heywood family sought ways to control Stephen's disease and improve his quality of life, they were eager to share what they learned with others. In 2004, Heywood and a team of MIT engineers founded PatientsLikeMe, an online community of patients who agree to share a wide range of patient data, including symptoms, diagnoses, treatments, side effects and other disease-related experiences. PatientsLikeMe then gathers, analyzes and shares the data it collects with doctors, pharmaceutical and medical device companies, research organizations and non-profits to inform their decision-making.

As part of this project, 23andMe will promote PatientsLikeMe's online Parkinson's community to its customers. PatientsLikeMe will add a genetics phenotyping tool to the Parkinson's community that will allow patients to manually enter their Parkinson's genetic mutation and search for others who share the same mutation. Members of PatientsLikeMe's Parkinson's community will also be able to take advantage of a special pricing discount on 23andMe's personal DNA test, receiving a high-density, custom genome scan for only $25, a service that normally costs $399.

The collaboration will significantly broaden 23andMe's research base, Dorfman says.

"We've been in contact with PatientsLikeMe for quite a while, but we were waiting for the right project to work on together," she says. "It's important that we have as much representation in our patient population as possible. We often work with people and caregivers who are slightly older and from different ethnic backgrounds, so PatientsLikeMe's community made it an easy decision to work with them. At the same time, PatientsLikeMe has this group of people with Parkinson's, and we knew they would get what we were trying to do because they are already on the Internet and they understand how we get information."

The new features will also help PatientsLikeMe researchers use new data to evaluate the effects of genetics on variation in the Parkinson's population, Heywood says.

"Here you have a large group of people who are willing to share information on everything that is going on with them on a much richer level than what typically goes on in trials," he says. "The sample set is going to be large enough to discovery the most significant modulating genes for Parkinson's. It's also very cost-effective if you think about the current costs and barriers to the process of developing biomarkers and evaluating pathways within a particular patient population. Quite frankly, I think any biopharma that is not looking at this way of building cohorts for analysis and understanding is going to be playing at a disadvantage to those who do."

The partnership is also a new model for how to approach discovery that puts patients directly in partnership with pharmaceutical companies, Heywood adds.

"Based on my own experiences, I am appalled at how misinformed and unengaged some patients in clinical trials are," he says. "A lot of people who participate in the research process don't realize how in many ways, it is broken, with misaligned incentives and information withheld from the patients. We're finding that a lot of clinicians are trying to find a more honest way of recruiting patients. We're seeing more companies show a greater awareness of their obligation to meet the needs of patients and provide as much feedback to the patients as possible."

Controversy swirls around subject of personal genetics

Since 23andMe exploded onto the genetics testing scene in 2006—garnering an "Invention of the Year" award from Time Magazine in 2008 for its pioneering work in retail genomics—the Silicon Valley startup and companies that offer consumers information about their genes have become the subject of much criticism and controversy. Most of the rub questions whether patients should be able to obtain their genetic information from labs that are not government-certified or without doctor approval, but there is also growing debate over privacy issues.

In April 2008, the New York State Department of Health sent warning letters to six online genetic testing companies, including 23andMe, barring them from offering New York residents genetic tests without a permit or doctor authorization. California regulators followed suit two months later, issuing cease-and-desist letters to 23andMe and other genetic testing companies, notifying them to stop offering tests until they provide proof of state and federal clinical lab certification and until genetics test results are only issued when ordered directly by a physician.

23andMe responded that they are in compliance with California law and will continue to operate in the state as their tests are "educational," not "diagnostic," in nature. The latter case is a process bound by much stricter regulations. 23andMe received a license allow it to continue to conduct business in California, but currently, only 25 states permit direct-to-consumer (DTC) genetics tests without restriction.

There is also growing concern that consumers who use personal genetic testing services are unaware of certain risks to their privacy. On June 5, Stanford University's Center for Biomedical Ethics published a study in the American Journal of Bioethics which argues a that a paradigm shift has occurred in how the public values their medical information and incorporates it into how they behave and plan for their futures. According to the report, "Research 2.0: Social Network and Direct-to-Consumer Genomics," a few companies enable consumers to share their genetic data with others via a social networking Web site, but there are no laws governing the exchange of genetic information online, raising privacy risks as genetic testing becomes more common.

Dr. Sandra Soo-Jin Lee, a co-author of the study, says personal genetic information is relevant not only for the individual who orders a test, but for other family members.
"For example, if you receive information on your breast cancer risk and share it with others, you might also be sharing information about your daughter's risk for breast cancer—even though she never consented to have that information shared," she says.
23andMe's Dorfman acknowledges the importance of such concerns, but stresses that the company is transparent about the services it provides and puts the level of information that is gathered and shared in the hands of the consumer.

"Everything about our service is voluntary," Dorfman says. "Patients can look at much or as little information as they want. They don't even have to look at their risk profile if they choose not to.

"Some people are economically threatened by what we do, and there is a certain rub over who will be required to do the work of explaining the information to patients," Dorfman admits. "There is a degree of paternalism in medicine, the idea that you have to protect the patient from themselves. When it comes to patients living with a disease for decades, we need to be responsible in how we communicate information about their disease. Currently, we require that a physician be the one to do that. While it's true that genetics is complicated, one of the things we would fail at as a business is if we were not able to educate people on the basic fundamentals of genetics. Patients need to be empowered to make that decision."

PatientsLikeMe's Heywood agrees: "We have in place a system of 'doctor knows best' that is reinforced through regulation and guidance, but that doesn't allow for the empowerment of the patient. The whole system is stacked to say no at every level, and patients can't figure out who has the ability to say yes. It almost seems abusive. If you pay attention to the dialogue on our Web site, you will see that patients want to be more involved."

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