ORLANDO, Florida (GenomeWeb) – Bill Gates and Francis Collins took the stage at the American Society of Human Genetics annual meeting last night, signaling the confluence of high-throughput genomics, global health, and big data.
In a wide-ranging discussion that included questions submitted by conference attendees ahead of time, Gates, the co-chair of the Bill & Melinda Gates Foundation and co-founder of Microsoft, and Collins, the director of the National Institutes of Health, covered topics such as vaccine development, premature birth, infant mortality, US education, NIH research funding, machine learning, and precision medicine.
Preceding the discussion, which was part of the ASHG Presidential Symposium, was a presentation by Gates, during which he highlighted successes and ongoing projects of his foundation in global health, and the critical role genetics has played in that work.
Vaccines in particular have played a large part in reducing the number of deaths of children under the age of 5 from more than 12 million per year in 1990 to less than 6 million now, he said, for example by preventing diseases such as diarrhea and pneumonia.
Also, polio has been reduced by so much — last year, there were fewer than 40 reported cases worldwide, and the disease is only active in Syria and parts of Afghanistan and Pakistan now — that it might become the second eradicated disease, after smallpox, if current trends hold up.
Still, there is a need for more vaccine development, in particular for malaria, where a first-generation vaccine has shown to be effective but short-lived, and for tuberculosis and HIV, where no vaccines exist yet.
Gene editing will also likely be an important tool for reducing disease burden. Several new efforts to combat malaria, for example, rely on CRISPR gene editing of disease-transmitting mosquitoes, Gates said, and gene therapy may become possible in the future to treat genetic disorders such as sickle cell disease.
Global health challenges
Nevertheless, many challenges remain in global health, for example infant mortality in the first month of life, which still accounts for about half of deaths of children under the age of five.
Another large problem related to both infant mortality and morbidity is preterm birth. Genome-wide association studies, such as a recently published study that was co-funded by the foundation, have been able to shed some light on genetic factors associated with preterm birth. The study, led by Cincinnati Children’s Hospital, involved data from more than 44,000 23andMe customers and found six gene regions associated with the timing of birth. It has led to an intervention study that will test if selenium supplementation can lower preterm birth, Gates said.
Changes in the reproductive microbiome have also been associated with preterm birth, he said, and might be preventable by probiotic supplements.
In addition to human genetics, agricultural genomics may contribute to improved global health, for example by generating more productive livestock or plants, he suggested.
During their discussion, Gates and Collins came back to the theme of vaccine development, in particular for HIV. Gates said that without a vaccine, there is little chance that the disease will be scaled back in countries in Africa, where the infection rate is still high. He said several HIV vaccine approaches looking promising, and a vaccine might be available within a decade or so.
Asked what he considers to be the greatest worldwide biological threat today, Gates said it is the fact that because people move around so much, a deadly pandemic like the 1918 flu would likely spread at a much faster rate today. “The world is quite underprepared for that,” he said, and there is a need for tools, like rapid diagnostics and vaccines, to respond quickly if needed.
Collins pointed out that in developed countries, non-infectious diseases, such as obesity, heart disease, and diabetes are the fastest-growing diseases, and according to Gates, chronic diseases are beginning to become serious issues even in countries where infectious diseases are still a big problem, such as in India.
Genomic technologies have begun to help with the management of some chronic diseases — for example in cancer, where genomic testing can guide therapy — but it will be difficult to export those technologies to poorer countries because of their current high cost, Collins said.
While science has clearly impacted healthcare in the US, science education, and public education in general, has been lagging. The US continues to have the world’s leading universities, Gates said, but education of the general population has been getting worse, even with increased spending, in particular in inner city schools. Technology has not made enough of an impact in education, he said, and could be used more effectively for personalized learning and tracking of progress.
Many jobs in today’s economy require an understanding of science, Gates said, but the way math and science are taught in many high schools today makes them difficult to appreciate.
Moving on to genetics research, Collins said that the field has become a major producer of large datasets. It will be important, though, to move on from germline genomes to a variety of omics data, ranging from the microbiome to circulating DNA, RNA, exosomes, proteomes, and metabolomes.
These data will need to be housed in a cloud environment that allows them to be accessed and analyzed, he said, and researchers need to be willing to share their data. “The era where you sit on your dataset and you mine it and re-mine it is over,” he said.
Researchers may not always like to share their data, and getting them to behave in certain ways can seem like herding cats, Collins said, “but I have a big bag of cat food, which is the NIH budget.”
Machine learning has been cited frequently lately as a way to gain new insights from big genomic datasets but Gates cautioned that it is a just a tool, providing the ability to see patterns in the data. While certain computational problems, like vision and speech, have been solved, he said, computers still have problems with more complex tasks that require understanding. For example, he said, if you give a computer a biology text book and later ask it to take a biology test, it will likely fail the test. However, he said, researchers are working on getting computers to extract knowledge from, for example, reading medical articles.
Asked whether scientists should become more engaged in public discourse, like both Gates and Collins, Collins said that one thing they could do is reach out to their local representatives, including members of Congress, and invite them to their research institute to explain their work, including its importance for science, healthcare, and the economy. Over the past few years, he said, he has talked to more than 400 Congress members, “and it always goes well because what I tell them is usually the most important story they have heard that day.”
Collins also touched upon precision medicine initiatives and said that it will be important to include underrepresented groups in this type of research. The NIH’s “All Of Us” initiative, for example, plans to recruit at least 50 percent of the 1 million planned participants from groups such as racial, ethnic, socio-economic, and regional minorities.
However, reimbursement will be the most important factor for making sure that healthcare is equally accessible to everyone. For genomic testing, that is currently not the case, Collins said, even though in areas such as cancer, the “evidence is pretty compelling” that it is effective.