Precision Medicine & Health Applications
The growing applications of precision medicine
Working towards treatments and approaches to care that are more targeted, more successful, and more cost-effective
Applying Precision Health Initiatives
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.
Oncology Precision Medicine Applications
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.
Identify Actionable Alterations with CGP
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:
2x Increased median survival1
20% Reduction cost in care1
$25k Drug cost-avoidance via clinical trial enrollment (PP)2
2.1m In potential savings as compared to exclusionary, sequential testing, and hotspot panels, based on modeling studies2
37% In a prospective study of 10,000 patients who had actionable alterations identified by CGP3
1000+/50 Ongoing oncology clinical trials / approved cancer therapies4,5
Assess Hereditary Cancer Risk
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.
- Nearly 1.5% of the population6 and 20% of patients with advanced cancer7 carry a pathogenic variant
- Population screening has the potential to reduce variant attributable cancer deaths by 31%8
- Risk-stratified breast cancer screening could have 71% fewer overdiagnoses and 10% fewer deaths while saving costs9
Predicting Cancer Predisposition
City of Hope scientists use NGS to understand the polygenicity of cancer, predict hereditary cancer risk, and tailor precision prevention.
Genetic Disease Applications
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.
Rare Genetic Diseases
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.
- Collectively, 2–6% of the population is affected by a rare disease, with over 70% having a genetic basis10
- Almost 7000 conditions have a known molecular basis11
- There are nearly 4400 genes with known condition-causing mutations to interrogate for proper diagnosis11
Newborn Genomic Screening
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
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.
>24% of new prescriptions with actionable drug-gene interactions based on preemptive testing14
10% Savings in outpatient costs with 2-fold more dispensed medications due to adherence15
16% Cost of drug-related morbidity and mortality resulting from nonoptimized medication therapy16
431 Gene-Drug interactions5
18 Therapeutic areas covered by drug-gene interactions5
25 Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines covering 20 genes and 68 drugs17
Noninvasive Prenatal Testing
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.
Genetic 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.
- Genomic factors play a role in 9 of the 10 leading causes of death19
- Heart disease and cancer alone account for 45% of all deaths20
The Rise of Genome Interpretation – Implications for Clinical Medicine
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 WebinarPolygenic Risk Scores
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 MoreCardiovascular Genomics
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 MoreHereditary Cancer Risk
Genomics can identify novel germline variants linked to cancer and assess the genes that have known associations with cancer predisposition.
Learn More
Public Health
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 SurveillanceContact us to get help implementing precision health applications in your institution.
References
- Wakap SN et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173.
- Tabor HK et al. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet. 2014; 95(2):183-93.
- Bush WS et al. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016; 100(2):160-9.
- The NIH U.S. National Library of Medicine. ClinicalTrials.gov. Accessed June 26, 2020.
- US Food & Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labeling. Fda.gov. Published February 5, 2020.
- Geisinger MyCode Project.geisinger.org. (Based on 2/1/2021 data with 62,434 cases analyzed for clinical review.)
- Mandelker D et al. Mutation Detection in Patients with Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA. 2017;318(9):825-835.
- Zhang L et al. Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis. Genet Med. 2019;21(9):1958-1968.
- Pashayan N et al. Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer: A Life-Table Model. JAMA Oncol. 2018; 4(11):1504-1510.
- Wakap SN et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173.
- Online Mendelian Inheritance in Man® Gene Map Statistics. omim.org. Accessed 3/1/2021.
- Tabor HK et al. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Am J Hum Genet. 2014; 95(2):183-93.
- Bush WS et al. Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. Clin Pharmacol Ther. 2016; 100(2):160-9.
- van der Wouder CH et al. Pharmacist-Initiated Pre-Emptive Pharmacogenetic Panel Testing with Clinical Decision Support in Primary Care: Record of PGx Results and Real-World Impact. Genes. 2019;10(6):416.
- Fagerness J et al. Pharmacogenetic-guided psychiatric intervention associated with increased adherence and cost savings. Am J Manag Care. 2014;20(5):e146-56.
- Watanabe JH et al. Cost of Prescription Drug-Related Morbidity and Mortality. Ann Pharmacother. 2018;52(9):829-837.
- CPIC Guidelines. Cpicpgx.org. Accessed August 11, 2020.
- Bianchi DW, Parker RL, Wentworth J, et al; for CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
- Office of Disease Prevention and Health Promotion. Genomics. Healthypeople.gov. Accessed 3/1/2021.
- Centers for Disease Control and Prevention. Leading causes of Death. CDC.gov. Accessed 3/1/2021.