CSE 40955810 Personalized Medicine in era of cloud

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CSE 4095/5810: Personalized Medicine in era of cloud computing CSE 4095 5810 Aya Saleh

CSE 4095/5810: Personalized Medicine in era of cloud computing CSE 4095 5810 Aya Saleh Software Engineer Student Affairs Information Technology Department at UCONN aya. [email protected] edu intrto-1

Motivation m Empirical medicine has been around for decades and still medical services are

Motivation m Empirical medicine has been around for decades and still medical services are using it. m Personalized medicine is a new trend that has evolved through past few decades since human genomic project had started. m There’s a need to explore the advancement in area of personalized medicine and integrate it in the context of cloud computing era. CSE 4095 5810 intrto-2

Empirical Medicine m Treat patients as one population. m Use symptoms and conventional tests

Empirical Medicine m Treat patients as one population. m Use symptoms and conventional tests like blood work to define disease and judge severity. m Hardly no predictions for future diseases or consequences of current status. CSE 4095 5810 intrto-3

What is Genome? CSE 4095 5810 intrto-4

What is Genome? CSE 4095 5810 intrto-4

Genomic sequencing CSE 4095 5810 intrto-5

Genomic sequencing CSE 4095 5810 intrto-5

Genomic Sequencing CSE 4095 5810 intrto-6

Genomic Sequencing CSE 4095 5810 intrto-6

Clinical Data CSE 4095 5810 1. EHR : records for patients. . etc. 2.

Clinical Data CSE 4095 5810 1. EHR : records for patients. . etc. 2. Administrative data. 3. Claims : which includes all insurance companies claims, pharmacy and enrollment. 4. Clinical trials. 5. Surveys. intrto-7

Clinical Data CSE 4095 5810 m Clinical research is mainly: 1) Clinical studies Ex:

Clinical Data CSE 4095 5810 m Clinical research is mainly: 1) Clinical studies Ex: Researchers may collect data about medical exams, tests, surveys for a specific group of adults to learn about life style effect on cognitive health. 2) Clinical trials Ex: startups like “Trial spark” is working on lessening time and money with advanced technology and analysis by simulating trials and therefore less time and money are spent to get a drug, diet or medical device out. intrto-8

Clinical Data CSE 4095 5810 intrto-9

Clinical Data CSE 4095 5810 intrto-9

Personalized Medicine CSE 4095 5810 The goal of personalized medicine is to achieve patient-centric

Personalized Medicine CSE 4095 5810 The goal of personalized medicine is to achieve patient-centric care through providing tailored healthcare. intrto-10

Personalized Medicine CSE 4095 5810 intrto-11

Personalized Medicine CSE 4095 5810 intrto-11

 Personalized Medicine CSE 4095 5810 m Advances in understanding the genetic basis of

Personalized Medicine CSE 4095 5810 m Advances in understanding the genetic basis of individual drug responses come from the NIH Pharmacogenomics Research Network (PGRN) (http: //www. nigms. nih. gov/Initiatives/PGRN). Since its founding in 2000, this nationwide alliance of research groups has studied genes and medications relevant to a wide range of diseases like Alzheimer's , cancer , heart diseases and diabetes. Ex: If it is found that a DNA mutation increases a person’s risk of developing Type 2 Diabetes, this individual can begin lifestyle changes that will lessen their chances of developing Type 2 Diabetes later in life. intrto-12

Personalized Medicine CSE 4095 5810 m Personalized medicine is called p 4 too i.

Personalized Medicine CSE 4095 5810 m Personalized medicine is called p 4 too i. e ( predictive, preventive, personalized, and participatory medicine) m There is an urgent need to bridge the gap between advances in high-throughput technologies and our ability to manage, integrate, analyze, and interpret omics data m An increasing lag has been observed in our ability to generate versus integrate and interpret omics data these last ten years intrto-13

Personalized Medicine CSE 4095 5810 m Clinical Sequencing Evidence-Generating Research (CSER 2) program, there

Personalized Medicine CSE 4095 5810 m Clinical Sequencing Evidence-Generating Research (CSER 2) program, there is an initiative to integrate genomic sequencing into practice of medicine. 1) Define, generate and analyze evidence regarding the clinical utility of genome sequencing; 2) Research the critical interactions among patients, family members, health practitioners, and clinical laboratories that influence implementation of clinical genome sequencing; intrto-14

Personalized Medicine CSE 4095 5810 3) Identify and address real-world barriers to integrating genomic,

Personalized Medicine CSE 4095 5810 3) Identify and address real-world barriers to integrating genomic, clinical, and healthcare utilization data within a healthcare system to build a shared evidence base for clinical decision-making. intrto-15

Personalized Medicine m CSE 4095 5810 It's not only genetic information that could help

Personalized Medicine m CSE 4095 5810 It's not only genetic information that could help in identifying or predicting diseases, there are other factors too like environmental factors. Precision Medicine: - Identify other factors for treatment than genomics scan and professionally include it. - Genetics study is by population not by Individual. m Precision Health: - Formal naming to precision medicine with information about people’s lifestyles, environments, and communities. m intrto-16

Personalized Medicine CSE 4095 5810 intrto-17

Personalized Medicine CSE 4095 5810 intrto-17

Legality and ethical issues m CSE 4095 5810 m Who will really receive the

Legality and ethical issues m CSE 4095 5810 m Who will really receive the benefits of PM? Will patients with private insurance and greater disposable income have unfettered access and better health care? Genetic Information and Nondiscrimination Act - ensuring privacy of information between health care providers, insurers and employers discrimination based on risk factors of genetic information. m intrto-18

Cloud Computing CSE 4095 5810 intrto-19

Cloud Computing CSE 4095 5810 intrto-19

Cloud Computing m Cancer research in the era of big data presents major challenges:

Cloud Computing m Cancer research in the era of big data presents major challenges: computing on large datasets, combining expertise from various disciplines, and developing the infrastructure needed to enhance research efficiency. m The National Cancer Institute (NCI) has initiated multiple projects to characterize tumor samples using multi-omic approaches CSE 4095 5810 intrto-20

Cloud Computing CSE 4095 5810 intrto-21

Cloud Computing CSE 4095 5810 intrto-21

Conclusion CSE 4095 5810 Personalized Medicine - Advancements in the field and challenges in

Conclusion CSE 4095 5810 Personalized Medicine - Advancements in the field and challenges in integrating these advancements. - Need to consider other variables like environment, lifestyle , even support groups work in clinical decision support systems. - Ethical and social issues like human-breeding using genomics or ability to have genetic screening under insurance. m m Cloud Computing role in fastening integration processes and how to make the world work together on the same topic. intrto-22

Thank you CSE 4095 5810 m https: //news. nationalgeographic. com/2017/07/dogsbreeds-pets-wolves-evolution/ m https: //www. cnn.

Thank you CSE 4095 5810 m https: //news. nationalgeographic. com/2017/07/dogsbreeds-pets-wolves-evolution/ m https: //www. cnn. com/2018/03/14/health/scott-kellydna-nasa-twins-study/index. html intrto-23