Imagine a future world in which we prevent disease before it develops, remove trial-and-error from treatment, and trust that our doctors have all the information they need to treat us as unique individuals. That is the promise of genomic medicine.
Genomics is a disruptive technology that will transform health care across the entire course of a person’s life, from pre-conception to end-of-life care. The genome refers to all an individual’s genetic information. Each gene is a recipe for the protein building blocks in our body—and our entire recipe book consists of over 20,000 genes. The first human genome was completed 20 years ago; it took 13 years and cost over US$3 billion. We can now sequence and analyze a person’s entire genome in days, at an ever-decreasing cost. And the impact on clinical care is significant.
An estimated 65 million human genomes are expected to be sequenced by 2025.
Take, for example, a critically ill baby in intensive care where doctors are struggling to find a diagnosis. Now, we can sequence that baby’s whole genome within days for a few thousand dollars and, in many cases, reach a diagnosis that informs their care. Couples planning a family can have genetic carrier screening to determine if they are at increased risk of having a child with a severe and often disabling genetic disorder, and genomic testing is being explored as an option for newborn screening. These early-life tests can provide a greater level of reproductive confidence and increase the options for early and effective therapies.
Genomics can also inform prevention and public health strategies for the early identification of adult-onset diseases such as cancer, and targeted therapies based on the individual’s specific genetic code (genotype). Individual genotypes are being used as a predictor of disease risk: Think of mutations in the BRCA genes and their link to breast and ovarian cancer. In this new age of precision medicine, it is conceivable that we will soon see widespread use of accurate individualized predictors for many of society’s common diseases.
But implementing genomics into mainstream health care at population level is complex. Beyond the technical requirements of establishing sequencing and bioinformatics capacity to process and analyze the genome, the real barriers to widespread clinical implementation span diverse domains, including data governance with a focus on privacy and security, and upskilling the health-care workforce to appropriately use this exciting disruptive technology.
Sequencing technology is rapidly increasing the capacity and scale of testing. This, in turn, is generating massive amounts of data. An estimated 65 million human genomes are expected to be sequenced by 2025; by 2030, this number will exceed 100 million. And that is just health data.
Some of the big questions around these massive datasets relate to access and data sharing, clinical information management, secondary use, and the longevity of the data. It is essential that we ensure the management of genomic information meets international standards and is used responsibly. The Global Alliance for Genomics and Health is tackling many of these issues, bringing together more than 600 organizations from over 100 countries to build technical standards and policy frameworks and tools to expand the responsible and secure use of genomic and other health-related data for the benefit of human health.
One of the biggest challenges for the genomics community is building datasets that reflect the diversity of world populations. Currently, our reference genomic datasets lean towards populations of European ancestry. To accurately interpret an individual’s genome, you need to take into account the normal variation in genetic background that varies between different ethnic groups and different geographies. There are international efforts to address this imbalance and reflect population diversity more accurately so that all people—irrespective of their ancestry—will be able to benefit from the promise of genomics medicine.
Genomic medicine is not a panacea for all ills. But its emergence over the past 20 years has already created a new paradigm in health care, one that challenges previously held assumptions about how we diagnose, treat, and predict disease. We still have a long way to go to realize the promise of precision medicine, but the future is bright.