Back in April 2003, the Human Genome Project, which was one of the great feats of exploration in human history, was completed. This international research effort led to mapping out nature's genetic blueprint for building a human being. Interestingly, April 2003 also marked the 50th anniversary of Nobel Prize winning by James Watson and Francis Crick for their efforts to discover and describe the DNA double helix.
Completion of the Human Genome Project took more than 10 years and its cost can be counted in $ billions. Today, thanks to great advancements in technologies, genome sequencing can be done within days at a fraction of the original cost (~$1,000). There has been much excitement and high expectation that the precise genomic knowledge that can now be generated will significantly advance our abilities to effectively manage and cure diseases. The economic impact of genomics innovations has been very definitive - “Every dollar we invested to map the human genome returned $140 to our economy – every dollar,” Barack Obama.
It turned out that dissemination of information, education of healthcare workers about new advances and overcoming regulatory hurdles is not an overnight process. As a result, genetic testing is still seen by many as an experimental curiosity, rather than medical necessity.
There are, however, multiple examples of genomic medicine making a real and significant difference to patient care. Areas of oncology, cardiovascular, intellectual disabilities or neonatal care have seen advances where genetic testing helped identify underlying causes of the disease and directed physicians’ decision on the most appropriate treatments.
Gene sequencing turned out to be life-saving for babies born with undiagnosed conditions, providing a powerful answer, even in cases where no treatments are available. Management of paediatric cancers involves robust genomic protocols, which enable comprehensive clinical and research-based testing.
Physicians now stand at the interface between genomic discovery and patient care. As we move forward, more doctors are likely to embrace smart genetic testing and think of their patients' DNA as the next indispensable tool in medicine.
Genomic medicine is here to stay and we are likely to see challenges in the next decade, which involve technology and costs, among others. It is imperative for healthcare providers to have access to quick and reliable technology, to not only read DNA at a clinical quality level, but also translate the gathered information. Genomics is a fairly young discipline, meaning that many current medical practitioners would require training on how to analyse and interpret the data to drive appropriate medical decisions. What’s more, regulators need to familiarize themselves with this rapidly evolving space in order to make informed and ethically appropriate policies surrounding genomic medicines.
Many would argue that genetics is going through a golden age and that the knowledge will continue to mount at an ever increasing pace. Knowing how to translate it into practice for patient benefit will be key.
“Our vision is to bring genomics into the clinical translation of disease diagnosis and treatment,” Dr. Mardis says. “It’s understanding what’s going on at the genomic level merged with the existing and ever-growing body of information we have from basic science and clinical research and making the most of that for improved outcomes, improved treatment, less suffering and less pain.”