Dr. Edward Stuenkel, Dean of the College of Health and Life Sciences at Qatar Foundation’s HBKU, writes on how precision medicine is the future of preventative and personalized healthcare
An increasing number of the world’s population is impacted by what may be termed global health crises. Non-communicable diseases like Ischemic heart disease, stroke, cancers, respiratory diseases, Alzheimer’s and other dementias, and diabetes are particularly prominent. Yet, novel communicable and infectious diseases also arise, spread and present global health crises. This is evident with the current coronavirus (COVID-19) pandemic, which has infected over 37 million and resulted in deaths of over 1 million.
Where does precision medicine fit in the prevention and therapeutic treatment of these global non-communicable and communicable diseases? Precision medicine employs information on the genetics, environment, and lifestyles of individuals to customize healthcare to the individual, or a defined subgroup of patients. That is, clinical decisions on treatment and practices of patients are able to be precisely tailored. Precision medicine is already in use in the cancer field; for example, many drugs used in the treatment of lung and breast cancers can only work in patients with specific genetic signature. Clinicians currently assess the genetic architecture of cancer patients and select the best drug that suits the patient’s genetic signature.
Importantly, precision medicine may also be employed in a preemptive fashion to identify and promote necessary changes in lifestyle, living environment, diet and physical activity to reduce future likelihood of a clinical health challenge. In this way, it may act as individualized preventative healthcare. The science underlying precision medicine encompasses an array of necessary and highly interacting subfields, including genetics, epigenetics, proteomics, transcriptomics, bioinformatics, epidemiology and pharmacogenomics among others. The confluence of information from each of these subfields is necessary to develop a comprehensive picture of the actions on individuals or population subgroups of non-communicable and communicable health challenges.
A stunning example on how clinical care must delve into understanding individual human differences to attack health challenges is apparent in the current COVID-19 pandemic. Clinical manifestations of COVID-19 infection differ across individuals, with some being pre-symptomatic or asymptomatic, with others requiring hospitalization, and a fraction entering intensive care or succumbing their life to the infection. Certainly, existing comorbidities of individuals, such as diabetes, chronic obstructive pulmonary disease , and immunological disorders contribute to the development of severity of COVID19 symptomology. However, there remains a puzzling difference in the severity of symptoms of those infected based on age and other factors, indicating an avenue of discovery for precision medicine.
Here is where the precision medicine-based scientists and clinicians shine. Detailed comparison of genetic features of individuals who resist the health challenge compared to those who succumb to the disease, controlled across variables such as age, ethnicity, existing comorbidities and others may begin to identify the primary features that promote resistance or confer disease progression.
Genomic analysis is complex, as genomic sequences present enormous datasets that require machine learning and highly trained bioinformatics scientists to parse out key facets of clinically relevant information. In addition, not all rests in the gene sequences themselves, as there are strict controls on gene expression outside of the genomic sequence that differ among individuals and that may be passed across generations based on prior environmental or stressful conditions. Specific environmental features of an individual’s global location as well as differences in cultural and behavioral norms may also promote the initiation or susceptibility to health challenges and to initiating a global spread of health crises.
The future success of clinical therapy to global health challenges and to preventative health care rests on precision medicine, which may identify genetic, environmental, or lifestyle characteristics within subgroups of the human population that confer susceptibility to disease agents and thereby provide a path(s) for treatment. Precision medicine will also have a positive economic impact on national health services, since targeted preventative and treatment approaches will enhance their efficiency and reduce their financial burden.
Successful accomplishments in precision medicine require interactive communication between scientists focused at the level of molecular and cellular research and physicians and health care practitioners that service the population facing health challenges. The College of Health and Life Sciences (CHLS) at Qatar Foundation’s Hamad Bin Khalifa University (HBKU) participates in this endeavor through its postgraduate degree offerings in genomics and precision medicine and by offering continuing professional development activities in the field to the health care community in Qatar. Additionally, many researchers at the college are actively engaged in COVID-19-related research.
A recent study published by CHLS scientists, in collaboration with Qatar Genome Programme and Qatar University, has shed some light on the contribution of genetic signatures to the susceptibility and severity of COVID-19 in Qatar
Qatar, largely via Qatar Foundation, is becoming a recognized global leader in precision medicine through its support and development of Qatar Genome Program, Qatar Biobank, educational and research training programs and in addressing issues on Islamic ethics related to precision medicine.