Earlier this year, there was a flurry of media stories about 13 people who, genetically speaking, should be severely ill but weren’t, thanks to mutations in their DNA. Thirteen people who could save the world from genetic slavery — only no one knows who they are. The story was reported by The New York Times, US News & World Report, The Economist, The Atlantic, the BBC, NPR and some popular science magazines, among others.
The prospect of scientists finding such “superhero” genes, as the media quickly dubbed them, in these 13 individuals that could protect us from illness understandably excited people and set off the media blitz.
Normally, we associate genes with illnesses like cancer and other diseases. We think of them as causing illness — not protecting us from it. The discovery of the 13 people was part of an exciting program known as the Resilience Project, which is looking at the genes of about 500,000 people in the hopes of finding those mutations in genes that appear to offer protection from rare or catastrophic illness.
The difficulty, in this case, is that the people with the “superhero” genes are completely anonymous. The 13 people don’t even know who they are. They may have submitted DNA to a commercial direct-to- consumer company to find out if they were related to a European monarch, or perhaps they participated in a research study at their local university. Their DNA got shared with researchers, but the people who shared it were only able to pass on de-identified data and did not have permission to recontact the individuals involved, even if they still knew them.
That meant the researchers looking at the data could explore those genes as much as they wanted, but they would never know to whom they belonged. This has been the Achilles heel of genomic or precision medicine. Patient consent and patient/participant engagement are two absolutely essential aspects of future research if genomic medicine is to fulfill the many promises it is holding out to us.
That’s why Geisinger Health System designed patient participation and engagement into its MyCode Community Health Initiative early on. MyCode is a biobank and exome sequencing program begun in 2007 and expanded in 2014. When Geisinger finds its 13 people with “superhero” gene mutations — and we may already have done so — we will most likely not only know who they are, but also where they are and what their medical histories are. And we’ll have their permission to recontact them for further studies and evaluations.
That’s because all of the 115,000-plus participants in MyCode are Geisinger patients, and patient consent and patient engagement were built into the program. Geisinger’s current target for the MyCode Community Health Initiative is 250,000 patient-participants with sequenced DNA. With its patients’ electronic health records going back 20 years, Geisinger’s MyCode is the largest program of its kind in the country that is actually returning certified clinical results back to research subjects/patients.
At Geisinger, we are trying to close the loop with our research participants so that it is no longer a one- way transaction in which you give us your blood/saliva/urine and we do our research. Now, with genomic medicine, the paradigm has changed: you give us your biological specimens and your consent, and we promise to keep you informed on the research results in general and your individual qualifying results in particular.
It is an experiment in a new social contract, the results of which are only now starting to materialize. Of the more than 115,000 patient-participants in MyCode, about 60,000 have had their DNA (exomes) sequenced to date through a collaboration with Regeneron Genetics Center and those results are now “research ready.” Those figures are growing monthly. About 148 individual Geisinger patients have already had independently certified clinical results — that is, the discovery of pathogenic gene variants causing cancer or other disease — returned to them via a specially tailored Geisinger protocol.
Have we found our 13 people with “superhero” genes? Quite possibly. Two quick examples: Researchers are still going through the data, but, initial results show that maybe 10 percent of those carrying the genes causing familial hypercholesterolemia (dangerously high cholesterol potentially leading to very early death) are not showing any symptoms of the disease.
Similarly, researchers have found new gene mutations that appear to provide substantial protection against cardiovascular disease. These and other early research findings will be studied as the MyCode Community Health Initiative progresses toward its goal of 250,000 exomes sequenced.