Improved Personalized Care Genomics in HealthCare National University HCA 622 Nick Greene, Dwane McGowan, Paula Wisniewski and Christina Dimalanta

What is Genomics? “The study of genes and their function. Genomics aims to understand the structure of the genome, including the mapping of genes and sequencing the DNA. Genomics examines the molecular mechanisms and the interplay of genetic and environmental factors in disease,” (2012).

Genomics is the future! Genomic Test can help identify high risk patients for: Cancer Heart disease Stroke Diabetes Alzheimer’s And treat these diseases with customized care which can lead to a healthier overall population. (National Human Genome 2005).

The implementation of genomics is a step in the process of improving health care by identifying high-risk patients, diagnosing patients at quicker rates, and assisting in developing customized treatments. The implementation of genomics has the capability of improving health outcomes for various diseases in conjunction with patients adhering to the medical advice they receive from their healthcare provider.

Recognized Importance: United States Department of Health and Human Services Healthy People 2020 program Program created and managed by the USDHHS, has the goal of improving the overall health of the U.S. population by identifying national health improvement priorities, understanding determinants of health and opportunities for improvement, and proactively strengthening policies and augmenting practices based on best available evidence and knowledge. Healthy People 2020 promotes the increased use of genomics in healthcare based on, “increasing scientific evidence supporting the health benefits of using genetic tests and family health history to guide clinical and public health interventions,” (Healthy People 2011).

Implementation of Genomics El Camino Hospital in Northern California “The nation's first community hospital based center of excellence focused on ushering the promise of personalized medicine from the research laboratory to patients, spurring genomic medicine to become the new standard of care,” (El Camino 2012). Steps of Innovation: Genome Medical Institute- patient family history tools, patient portal, genetic counseling and testing

Example of assisting at risk patients at GMI GMI is devising an at risk program in conjunction with the Cancer Center and the Women’s Hospital at El Camino Hospital. These programs seek to identify mutation carriers for hereditary syndromes before a disease materializes (El Camino 2012). GMI is launching the first risk assessment program in the mammography suite at El Camino Hospital. A ‘risk application’ will be loaded onto an iPad and completed by patients presenting for their screening mammogram. If family history indicates a high risk for the BRCA mutation, the patient and their referring physician will be so notified and offered genetic counseling. (2012).

GMI “At Risk” Program This program will assist in identifying high-risk breast cancer patients before the breast cancer is present. In taking preventative measures, healthcare providers can improve the survival rate of breast cancer patients. The National Breast Cancer Foundation reports that when breast cancer is detected in a localized state, the patient has a 98% 5-year survival rate, however over 30% of the 200,000 women diagnosed with breast cancer annually are diagnosed after the breast cancer has spread beyond the localized state (National Breast Cancer 2008).

Genomics in the day to day clinical practice Mayo Clinic Distinguished healthcare organization that is an example of applying genomic science to everyday medical decisions. The Mayo Clinic is unique in its implementation of genomics. It operates its own genome facility named The Center for Individualized Medicine, in addition to outsourcing genetic material to outside company Complete Genomics for sequencing and analysis (Wall Street 2012). The Mayo Clinic is establishing itself as a leader in innovative clinical research to continue providing first class patient care and treatment. Understanding how genes vary among patients and interact with one another, Mayo physicians have been empowered to, “earlier and more accurately diagnose diseases, better predict outcomes, and customize treatments while minimizing side effects,” (Mayo 2012).

The Cleveland Clinic “the expert base for the principles and practice of genomic medicine as a single platform for scholarly activity (research), academic clinical care and outreach, and education ultimately directed at genomics-based personalized healthcare,” (Cleveland 2012). Patients treated by the institute at the Cleveland Clinic experience a different approach to healthcare: from a traditional, “retrospective, interventional care to prospective, preventative care that is highly personalized and pre-emptive,” (Pai 2009).

Genomics through research programs In 2011, Dr. Eng, director of the GMI at the Cleveland Clinic led a team that was able to identify genetic markers that provide risk assessment, early detection, and improved disease management in Barrett esophagus (BE) ultimately leading to better health outcomes by increased survival (Cleveland 2012). Genomics helped facilitate the discovery of the genetic mutation in patients with BE. As the application of genomics increases there is sure to be more discoveries that will lead to life saving detections and treatments.

Risk and Challenges to further Implementation Cost Lack of evidence-based benefits Lack of tracking baseline measurements No formal requirements for a laboratory to produce and use a new test, this lax oversight of testing and standards lead to a lack of analytical and clinical validity, lack of confidence in test results, and untrained staff evaluating test samples.

ACCE Model Project First Publicly available evaluation system for testing Established between 2000-2004, by the Centers for Disease Control (CDC) Office of Public Health Genomics (OPHG) A- Analytical validity- this refers to how well a test predicts the presence or absence of a particular gene or mutation. C- Clinical validity- determines how well the variant being checked is correlated to the presence or absence of a specific condition or the risk of acquiring it. C- Clinical utility- whether the test has a positive impact on the patient’s health. E- Ethical, legal, and social implications- information provided to the patient should be accurate, reliable, and validated (Zonno, 2009).

Genetic Testing is Regulation Clinical Laboratory Improvement Amendments (CLIA), 1988, administered by the Centers for Medicare and Medicaid Services (CMS). Laboratories must meet set standards for personnel qualifications, proficiency testing, and quality control; however, the evaluation of clinical validity and utility is not required and no proficiency tests for genetic testing are implemented (Genetic Alliance, n.d.). CLIA standards deal with analytical validity (Genetics Home, 2013).

Federal Food, Drug, and Cosmetic Act, as administered by the FDA Federal Food, Drug, and Cosmetic Act, as administered by the FDA. This covers regulation of in-vitro diagnostic devices and does not cover in-house laboratory developed tests, often referred to as home brew tests. The quality of the reagents is evaluated but the validity and utility of the actual test are neglected. The Office of Human Research Protection and the FDA protect the rights of human subjects during investigational phases of testing.

Other initiatives to improve quality of Genomics In 2011, OPHG, which promotes evaluation of evidence-based genetic testing, launched an initiative to develop priorities for public health genomics for the next five years. Develop and implement research using evidence-based practices. Integrate genomics into the curriculum of professional health care programs. Create partnerships among academia, public health organizations, and private stakeholders, and pledge to commit to increasing genomic literacy. Evaluate genetic tests for clinical validity and utility. Create public database on genomic tools and validity and reliability of tests. Ensure proper regulation of genomic technologies. Ensure a competent, qualified workforce in the field of genomics.

The OPHG three levels of evidence for genetic testing Tier 1- recommended for clinical use by evidence-based panels based on review of analytical, and clinical validity, as well as utility for specific clinical situations. An example would be newborn screening tests. Tier 2- some analytical and clinical validity, with possible clinical utility, although not yet evidence-based for testing. An example would be testing for parental history of depression. Tier 3- no validity or utility identified, possible usage for research purposes

Future of Regulation of Genomics Next Generation Sequencing, which involves standardization of clinical testing and maximizes evolving DNA technology (Quality Practices, 2012) The Genetics and Public Policy Center recommend establishing a national registry of all approved genetic tests, with standardized information, test performance and characteristics, reference information, and validity data being readily accessible. . A federal agency such as the FDA or NIH could possibly oversee such a registry, developing a transparent model for future genomic testing growth (Zonno, 2009).

Actions Needed to guarantee success of Genomics in the future Conducting research on how to translate research recommendations into practice. Facilitating the use of valid and useful genetic tests and family health history tools to guide clinical practice, policy, and Federal, State, and local programs to find people who are at risk for disease, make diagnoses, and provide appropriate interventions. Monitoring the use of genetic tests and family health history in populations, the health outcomes related to their use, and disparities in use and outcomes. Adding genomic information and clinical decision support tools to electronic health records

In Conclusion The “one treatment fits all” in healthcare will not continue. The technologies, information, and innovations that are being applied to healthcare will revolutionize the way patients receive treatments from their healthcare providers. The advances and tools that genomics have provided to healthcare will continue to assist in improving healthcare delivery. Personalized care for the masses will become the new standard of care. New risks and challenges in implementing genomics in everyday healthcare applications and clinical practice will surely arise, however, there is great faith that the risks and challenges encountered will not be greater than the benefits associated with improved health outcomes.

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