NEW YORK – The Mayo Clinic Center for Individualized Medicine and Helix said on Thursday that they have teamed up for a new clinical genomics study, called Tapestry, that aims to enroll 100,000 Mayo Clinic patients over the next five years.
The goal of the project, which is funded with a multi-million dollar amount by the Mayo Clinic, is to learn about the impact of genetic testing on an individual's healthcare, both short term and long term, when their DNA results are part of their electronic health record. In addition, the study plans to use participants' genetic data for future research projects.
Helix, which received an undisclosed investment from the Mayo Clinic in 2015 and has been collaborating with the Center for Individualized Medicine since then, is providing its clinical Exome+ sequencing assay for the study, performed at its CLIA laboratory. Financial details about payments to Helix under the new study remain undisclosed.
The study is the third large-scale genomics project that Helix has signed with a health system, following similar deals with the Renown Institute for Health Innovation for the Healthy Nevada Project in 2018 and with AdventHealth Orlando for the WholeMe study last year. The collaborations coincide with a change in strategy Helix announced last year, turning away from consumer genomics and toward large-scale clinical genomics partnerships.
The Mayo collaboration "continues the trend that Helix is really pushing forward to work with health systems across the United States to drive population genomics," said Justin Kao, senior VP of business development and partnerships at Helix. "Tapestry joining Helix is a really big validation," he said. "Over the remainder of this year, we think that there will continue to be more health systems that are announcing either expansions or new initiatives with us."
Konstantinos Lazaridis, associate director of the Mayo Clinic Center for Individualized Medicine and the principal investigator of the Tapestry study, said the goal is to enroll 15,000 to 20,000 Mayo Clinic patients during the first year.
When patients make an appointment at Mayo, an algorithm identifies whether they are eligible, and those who are receive an electronic invitation and information about the study. Patients who elect to enroll are then sent an electronic consent form. After they consent and register, patients obtain a saliva kit at home. "Even before we see them in the clinic three or four weeks later, everything will be completed," Lazaridis said. Participants send their kits to Helix for exome sequencing, and their genetic data will be stored both at the Mayo Clinic and at Helix.
The study is open to individuals who are at least 18 years old, are current Mayo Clinic patients, do not reside in New York state, and have access to email and the internet. Also, they cannot currently have a hematologic cancer, cannot have had a bone marrow or organ transplant, and cannot be seeking a genetic diagnosis.
In particular, the investigators are looking for participants with good phenotypic information in their clinical records who come to the Mayo Clinic on a regular basis, including patients with an ongoing health issue and patients coming for preventive visits. At some point, Lazaridis said, the study may also start recruiting specific types of patients on behalf of investigators who are interested in certain diseases or phenotypes.
The Mayo researchers are currently testing their protocols in a small pilot study that will involve approximately 100 participants and they plan to open the study up for enrollment once that's completed, probably by the end of this month.
The study will have a clinical and a research component. Under the clinical part, participants will receive genetic results for 11 genes involved in the three Centers for Disease Control and Prevention Tier 1 disorders – familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome.
Lazaridis said the expectation is that 3 to 4 percent of participants will have a positive result, which will be communicated to them by a genetic counselor at Mayo. In addition, their primary care physician will receive those results. Both positive and negative results will go into the patient's EHR.
Even though Helix provides clinical-grade testing, Mayo will still confirm all positive findings with a blood test. "I would be surprised if any of the positives become negative," Lazaridis said. "But the [saliva] collection will happen at home, unwitnessed in the home environment, not at a medical facility, so we would like to take an extra step to make sure that nothing went wrong during the collection of the specimen."
In addition, participants can elect to receive ancestry and non-medical genetic trait results from Helix, which will not go into their EHR.
Under the research part of the study, Tapestry investigators will look at additional genes, and results that could have an impact on patients' health may also be entered into their EHR. Lazaridis said the plan is to study 50 additional genes initially, which have not been chosen yet. "Eventually, we’re going to get back the entire exome data from Helix, so someone can write another protocol to interpret additional genes and do additional studies," he said.
Initially, the data will be available to Mayo Clinic investigators for research, but later on it may also be opened to Mayo collaborators or outside investigators, Lazaridis said.
The study protocol allows researchers to collect additional biospecimens from patients who have agreed to provide them – such as blood, urine, or stool samples – for other types of -omics studies.
Tapestry is also collecting family history data from participants and will correlate those with the genetic results. Lazaridis said that in an unrelated study that is currently under review with a journal and involves more than 300 patients who underwent predictive genomic testing using whole-genome sequencing, almost half of those with an actionable finding had no family history for the condition. He expects this to be similar for Tapestry participants with positive results.
The researchers also want to study how genetic findings affect a participant's health outcome, and what effects they have on healthcare costs. "Ultimately, we'd like to see an impact of those studies to improve the care of the patients," Lazaridis said.
The effects could be significant. For example, a patient might come to Mayo for a hip replacement and find out that she carries a BRCA1 mutation. "They come here for something else, and now all of a sudden they have a genetic condition which also has an effect on their family members. We think that will be profound to their care and that of their loved ones," Lazaridis said. "It will be a small percentage, but for that small percentage, it will be quite meaningful."