People with lupus from around the world (throughout the country) joined the LRI and 23andMe for a Google Hangout to learn more about what’s happening in lupus research – at 23andMe and in the field.
Lupus patient and LRI staffer Amy Caron, MPH and Joyce Tung, Research Director answered the following questions from the moderator and Hangout Participants
Click here to watch the full video from the Google Hangout.
Introduction to Lupus Research Institute, 23andMe, lupus clinical research and the 23andMe genetic lupus study.
Challenges in lupus diagnosis; recent breakthroughs in lupus research and looking ahead to the most promising studies going on right now.
What are the goals of the LRI?
The LRI is working to stop the damage caused by lupus and prevent disease progression. It was founded in 2000 by people with lupus and their families in collaboration with leading scientists and researchers because at the time there had not been sufficient advancement in the understanding of lupus, and no great strides had been made towards a cure or new treatment.
The LRI is the leading private supporter of novel research in lupus. In 15 years, we have invested $50M in novel research, awarding over 150 grants. We are proud to share that 84% of these studies have proven their hypothesis.
Can you please tell us a little about 23andMe?
23andMe is a direct to consumer genetic testing company. We have 1 million genotyped customers. Anyone who signs up for 23andMe and submits their saliva sample to us can participate in research for lupus and other conditions by answering survey questions directly from their computer - at home
What are the challenges in lupus research?
Lupus is a very complicated disease that can affect any organ in the body. We believe that lupus develops as a result of a combination of genes, environmental exposures, and hormones.
In regards to clinical research, a major challenge is that not enough people participate in clinical studies. The only way we will get new treatments is to test them in people with the disease.
Need for more flexibility in trial design, particularly due to the heterogeneity of a disease like lupus. For instance, many lupus trials are designed with exclusion criteria that can make it almost impossible to enroll enough qualified patients.
The LRI developed LupusTrials.org to inform patients about the different types of trials and to make it easier to find trials in their area to discuss with their healthcare provider.
What would you say to someone watching this Hangout thinking “Why should I participate in research and what are some different ways I can do that?”
The smaller the study population, the less useful the outcomes are in practice, so it’s critical that all patients participate in research they qualify for and are comfortable with.
Not all studies require taking a medication. Observational studies may include simply monitoring a patient over time without administering any new treatment. If you participate in the 23andMe study, you’re participating in observational research!
Interventional studies look at a potential new treatment or intervention usually compared to a group not receiving it. The risk is greater but participating in this type of study can offer access to innovative new treatments. Also participating in clinical trials can be rewarding- one active participant, Kaamilah Gilyard, shared that “Emotionally, taking part in a trial is very empowering. I feel like I have a sense of responsibility to the lupus community to do everything I can to help everyone dealing with this disease.”
It’s important to read through the educational material about the study carefully, ask all the questions you need to of the study team, and work with your doctor to make the choice that’s right for you.
What is 23andMe’s lupus study about?
The goal of this study is to answer two main questions:
- Are there genetic factors that contribute to the cause and severity of lupus?
- Do genes influence different responses to medications or other treatment?
The 23andMe web-based platform enables a large group of individuals with lupus to come together to provide valuable data for research that may help improve diagnosis and treatment. This research data includes genetic information (using DNA from saliva) and information about each participant’s unique experiences with the disease (using responses from online surveys).
What does someone need to do to participate in 23andMe’s lupus study?
- Enroll and consent through the study website so you can contribute your genetic data, medical records, and survey answers to the lupus study.
- Respond to a short questionnaire to determine your eligibility to participate. This step is very important to ensure the integrity of the study.
- Provide us with your physician's contact information to allow us to obtain and access your medical records for the study.
- Provide a DNA sample (from your saliva) for genetic analysis. We will keep this saliva/DNA stored in our laboratory.
- Complete 7 short online surveys about your experience with lupus over the course of a year. Surveys will include questions about your diagnosis, treatment, symptoms, medications and family history. We will email you to let you know when to take these surveys, and may send reminders and call you if you haven't finished all the available surveys.
What are some of the benefits to participating in 23andMe’s research program?
- Learn about your genetic ancestry and access your uninterpreted genetic data at no cost
- Take a direct role in research that may benefit you and other individuals with lupus
- Participate in web-based research from the comfort of your own home
- Be kept informed quarterly on study progress
What is 23andMe hoping to find by collecting DNA samples from people with lupus?
We believe that this study will enhance research for lupus by:
- Bringing together a large group of people who have lupus to better understand how genes may influence age of diagnosis, disease progression, symptoms, and different responses to treatments.
- Expanding the geographic reach of the study by enabling participation from home.
- Removing some of the time and cost barriers that can slow progress in other types of studies.
Where can I find more information about the 23andMe study?
You can learn more about the 23andMe lupus study by visiting 23andme.com/lupus/
What is some of the most promising research you’re currently seeing around lupus?
One study I find particularly exciting as a young woman with lupus is building upon oncologist and immunologist Dr. Tyler Curiel’s original LRI-funded grant. Dr. Curiel is figuring out the precise set of hormone signals that allow estrogen to interfere with the body’s healthy immune function. Like many young women, I took oral contraceptives which contain estrogen, and when I stopped taking the pill, I saw major improvement in my symptoms. As I look forward to potentially having children, this discovery may also have implications for me as a woman with lupus becoming pregnant.
There are more than 70 investigational new drugs or drugs that have been approved for other uses being tested as potential treatments for lupus. And right now, there are about 125 clinical trials aiming to better understand lupus and improve ability to treat the disease and its complications safely and effectively.
Evidence suggests genetics have a role (for instance, the frequency of lupus in identical twins, increased prevalence among first/second degree relatives) – so genetics based research like 23andMe that can help identify the immune system pathways that may be involved is exciting. I got my kit and it’s on the way back now!
Are there any recent breakthroughs we should know about?
Certainly, the development and availability of belimumab or Benlysta® is a major breakthrough. It is the only drug developed specifically for lupus in over 50 years. However, Benlysta works only for some types of patients. More recent studies are using genetic testing to predict what drug will work best in which patient so treatment can be more precisely targeted, cutting down on the amount of medications and minimizing side effects.
As a patient, I was particularly excited by a study presented at an international medical meeting last year showing that, for the majority of lupus patients who are in remission, it is possible to successfully stop immunosuppressant therapy without triggering a flare of their disease. Understandably, rheumatologists would hesitate to take a patient off of a maintenance drug for fear of flares. But for me it got to a point that the side effects of the immunosuppressants far outweighed the risk of flares. It’s good to see that there is a growing body of evidence to support that in clinical practice.
Another major breakthrough that was partly funded by the LRI, researchers Drs. Kenneth Smith and Eoin McKinney at University of Cambridge just published results showing that artificially exhausting certain immune cells so they are too tired to attack the body could provide a way to help stop lupus damage and progression.
Also, a study just published by several investigators LRI has funded in the past shows that for women whose lupus symptoms are under control, pregnancy results are good.
Why do you think the estimates of lupus prevalence vary so greatly? How many people are believed to have lupus? How many undiagnosed?
The estimates for prevalence of lupus vary widely ranging from 355,000 to 1.5 million people with lupus in the US. The variation is due to many things including the way in which the studies are conducted.
In order to get a better idea of the prevalence (number of people with lupus) and incidence (number of new cases diagnosed each year) the Centers for Disease Control and Prevention (CDC) funded a lupus registries project. Five different sites have been determining the prevalence and incidence of lupus in their area. Since the same protocol was followed at each site, hopefully the results will give us a better sense of lupus prevalence nationwide.
Why is lupus so hard to diagnose?
There is no single laboratory test that can determine if a person has lupus. To diagnose lupus, a doctor looks at a combination of physical and laboratory evidence. To be diagnosed with lupus, one must meet 4 of 11 criteria as established by the American College of Rheumatology; criteria include things like the malar or butterfly rash, photosensitivity, excessive protein in the urine, mouth or nose ulcers, and a positive antinuclear antibodies test known as ANA.
To complicate matters, many symptoms of lupus are similar to those of other diseases, and can come and go over weeks and months. It can often take years for a diagnosis to be made.
Fear, lack of competency by frontline providers (those that are essential to recognizing the disease and making the referral for diagnosis). Many PCPs will mistakenly miscategorize lupus patients as somatizers. Many primary care providers are unsure what lab tests they can and should run on patients to best prepare a rheumatologist for a lupus assessment. The LRI Teaching Fellows in Lupus Project pilot showed success that an educational seminar led by a rheumatologist in training (Fellow) can help address this issue.
Is it getting any easier to diagnose lupus?
We continue to see improvements with technology (better symptom tracking, easier access to historical data), new payment models that promote team based care (PCMH), additional support for community based care in underserved communities, and lupus specific education for providers outside of rheumatology.
More active/participatory patients and increased access to health insurance should also help. In addition, more cultural competency and communications training, and an added layer of support for primary care providers (like PAs, MAs and Nurses) could also help better understand symptoms, patient histories, etc. to get lupus to be among the diseases considered for diagnosis.