Applications of precision medicine can help save lives, proactively inform people about genetic risk, reduce health care costs, and improve quality of life. Awareness of future risk could be fundamental for wellness given that genomics plays a role in 9 of the 10 leading causes of death.1
As we learn how certain exposures (environmental, behavioral, etc.) and socio-economic inequities are exacerbating genomic pre-conditions, we can take action to modify the potential impact. A cohesive strategy combining precision medicine with public health and wellness initiatives can help to reduce disease burden and provide better healthcare outcomes.
Understanding the genomic basis for each patient’s disease can help pinpoint alterations that fuel cancer and allow the oncologist to select the right therapies to manage their patient’s cancer. This can result in a plan specifically tailored to the patient’s unique cancer that is the essence of applied precision medicine.
Comprehensive genomic profiling (CGP) is a precision medicine application that uses a single assay to assess relevant cancer biomarkers, as established in guidelines and clinical trials, for therapy guidance. CGP of tumors could be a valuable tool in matching patients to the best treatment possible to improve survival rates and may also reduce the cost of care.
Why you should consider CGP as part of your precision medicine strategy:
Identifying mutations that predispose individuals to cancer can support prevention to reduce the likelihood of developing cancer. Hereditary mutations play an important role in cancer risk and susceptibility.
City of Hope scientists use NGS to understand the polygenicity of cancer, predict hereditary cancer risk, and tailor precision prevention.
Genomics can cast a wide-enough net to identify or rule out genetic causes of diseases. The symptoms could be driven by underlying genetic changes, resulting in unexpected clinical presentation that may lead to a costly and extended diagnostic odyssey. Precision medicine applications that lead to a genetic diagnosis can help improve outcomes, promote enduring good health, and raise awareness about the importance of genetics in health care.
A genetic diagnosis can help improve outcomes and quality of life, especially with early onset disease or symptoms. While the prevalence of any one condition may be rare, overall, genetic disease is common.
Genome sequencing and analysis is having a profound impact on newborn care, both in helping solve diagnostic odysseys of newborns in intensive care and in monitoring the long-term benefits of genomic medicine. Drs Stephen Kingsmore and Robert Green discuss their pioneering work in the field of newborn genome sequencing and analysis.
Pharmacogenomics (PGx), the study of how genome variations dictate a person’s response to medications, has the potential to bring about extensive benefits to health care. Each individual carries at least 5 known PGx alleles12, and nearly all individuals (~97%) carry one or more highly actionable drug-gene interactions13.
Noninvasive prenatal testing (NIPT), per the American College of Obstetricians and Gynecologists (ACOG), is the most sensitive and specific first-line screening option for all pregnant women, regardless of maternal age or baseline risk. Applications of NIPT offer higher detection rates and lower false positive rates vs traditional serum screening, with an 89% reduction in unnecessary confirmatory invasive procedures18. Reducing the number of invasive confirmatory procedures results in less maternal and fetal risk.
Awareness of future risk could be fundamental for wellness. Screening is critical in mitigating advanced disease or preventing it altogether. Incorporating these applications of precision medicine into public health initiatives could reduce disease burden on our population and healthcare.
Dr. Amit V. Khera provides a comprehensive overview of how understanding both rare and common genetic variation can be used as a tool to better understand disease biology and improve clinical care in cardiovascular disease as well as other important diseases.Watch Webinar
Polygenic risk scores represent the total number of genetic variants that an individual has. Polygenic risk scores have the potential to assess both an individual's risk of disease and to analyze populations based on disease risk.Learn More
Genomics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease to help predict heart attack risk and improve clinical care.Learn More
Genomics can identify novel germline variants linked to cancer and assess the genes that have known associations with cancer predisposition.Learn More
The COVID-19 pandemic highlights the need for improved surveillance overall and in future epidemics. Genomic surveillance can track infectious disease transmission and determine how quickly pathogens are mutating as they spread. We can use this information to implement effective infectious disease surveillance strategies to prevent further transmission and infection.Learn More About Surveillance