Healthcare Personalized for You Week 6 May 23, 2017 Wrap Up and the Future Healthcare Personalized for You Week 6 May 23, 2017

Final Week of Class Promethease Precision Medicine Initiative Pros and cons How to use the site How to get the most from the site Precision Medicine Initiative Resources: articles and Apps A Look to the Future Evaluations Q and A

Promethease: What Is It? Promethease is a tool for getting more out of your digitized genetic data, by exploring the genetic variants that you possess. 23andMe only discusses a fraction of the variants they test for in your DNA Promethease can be a cost-effective means of learning more about yourself using the data you already have  The youtube demo leads you thru the tutorial provided by promethease; helps you get the most out of your reports You must remember this is not a gene test This is an association of SNPS with diseases and traits; it is evolving; it is based on research, not what is seen in the real world Can be helpful. If you feel you are at increased risk, you can take your concerns to your doctor who can order a clinical test

How to Use Promethease Have your DNA analyzed by any one of the DNA testing companies: 23andme, Family Tree DNA, Ancestry, DNA.land, Genos, and Genes for Good When your results are in, download your Raw Data to your computer Go to Promethease.com, read the directions, click all the boxes giving consent and agreeing to their terms 4. Pay $5.00-$10 by credit card Upload your Raw Data from your computer to Promethease (if you used 23andMe, you can upload directly from their site) 6. Wait 5-20 minutes for your report Check your inbox for an email notifying you that your results are ready Get the reports, understand the information

Promethease Terms-A Detailed Look I understand that the information provided in my Promethease report is based on SNPedia.com and that my report is for educational and research purposes only. I realize that most published reports about DNA variations explain only a small part of the heritability of a trait, and they also don't take into account how different variants might interact. In addition, published reports typically ignore environmental, dietary, microbial, medical history and lifestyle factors, any or all of which may well affect my true risk for any trait or disease. I am aware that I am strongly encouraged to discuss my Promethease report with a doctor, genetic counselor or other health-care provider prior to making any medical or reproductive decisions. I also acknowledge that I am advised to confirm any significant finding discovered in part through the use of Promethease by an independent, clinically validated test for use in connection with the medical trait in question. I understand that my report is deleted after 45 days but that I can download it before it is deleted. I accept the risk of learning that I may be at high risk for a debilitating disease. I have read and understand the Privacy Policy and the Legal Terms and Conditions of this website. I agree to these conditions.

Promethease PROs Promethease is update regularly CONs It reports on your predisposition to disease, response to medicines and genetic traits It can process the raw data obtained from DNA tests such as 23andMe or AncestryDNA, as well as the data acquired from exome or genome sequencing The service has been designed to allow individuals to identify the genetic variants they possess, learn about what they mean, and access the corresponding research Promethease appears to ‘cut out the middle man’ (healthcare provider) when it comes interpreting an individual’s genetic data Cost is $5-10 depending on what Raw Data is uploaded to the site None of the data is anonymized and sold CONs Clinical/medical people not involved Information is complex so it can be mis-interpreted by people  Reports are based on SNPedia and are deleted after 45 days Reports don’t take non-genetic factors into account Reports assume genetic variants don’t interact with each other Reports are not as easy to read or interpret as 23andMe Understanding all the information on the site can be “challenging”

Promethease Tutorial Promethease website www.promethease.com YouTube Guides https://www.youtube.com/watch?v=IcIVs8MWLkI https://www.youtube.com/watch?v=xwendzsqtkE

Precision Medicine Initiative

Precision Medicine Initiative What is the Precision Medicine Initiative? The Precision Medicine Initiative (PMI) is a bold research effort to revolutionize how we improve health and treat disease. The PMI aims to leverage advances in genomics, emerging methods for managing and analyzing large data sets while protecting privacy, and health information technology to accelerate biomedical discoveries. (from PMI FAQ)

All of Us http://allofus.nih.gov/ What is the All of Us Research Program? NIH's All of Us Research Program is a major piece of the PMI. All of Us will engage one million or more volunteers living in the U.S. to contribute their health data over many years to improve health outcomes, fuel the development of new treatments for disease, and catalyze a new era of evidence-based and more precise preventive care and medical treatment. When can I sign up to join the All of Us Research Program? The program will launch in stages, beginning with a beta phase and then a larger rollout later in 2017. Before we begin enrollment, we want to make certain that all systems are successfully up and running with the highest levels of data security, and our processes are well in place to ensure a good experience for participants. Following launch, we will make continuous improvements and updates to the program based on participant feedback and emerging scientific opportunities and technological advances. NIH will widely publicize when enrollment is open, and we hope you will sign up. (from PMI FAQ)

More PMI FAQ: Will my health information be safe? How do you plan to ensure privacy? What about data security? All of Us takes privacy and security concerns very seriously and abides by the PMI Privacy and Trust Principles (pdf)(120 KB) and the PMI Data Security Policy Principles and Framework (pdf)(388 KB). The program is engaging teams of experts to conduct rigorous security testing, establish safeguards against unintended release of data, and set penalties for the unauthorized re-identification of participants. In addition, the program is developing education materials for participants about potential privacy risks and our response plans in the case of a privacy breach. Prior to launch, we will ensure that all systems meet the requirements of the Federal Information Security Management Act (FISMA), and will test all systems for any vulnerabilities. After launch, we will continue to perform ongoing security tests to protect participant data. What do we hope to learn? The All of Us Research Program will build one of the world’s largest and most diverse data sets for precision health research. With data from one million or more participants who contribute information over a long period of time, researchers may be able to: develop ways to measure risk for a range of diseases based on environmental exposures, genetic factors, and interactions between the two; identify the causes of individual differences in response to commonly used drugs (commonly referred to as pharmacogenomics); discover biological markers that signal increased or decreased risk of developing common diseases; use mobile health (mHealth) technologies to correlate activity, physiological measures, and environmental exposures with health outcomes; develop new disease classifications and relationships; empower study participants with data and information to improve their own health; and create a platform to enable trials of targeted therapies. Why should I join? To develop tailored treatments and prevention strategies, researchers need more data about the individual differences that make each of us unique. By enrolling in the All of Us Research Program and sharing information, you can help ensure that your community is included in the studies that lead to improved health for future generations. In addition, All of Us will also share data and information we collect about you, as well as certain study results, to help you know more about yourself. What would be expected of me if I enroll in the All of Us Research Program? If you decide to join All of Us, we will ask you to share different kinds of information over time. We will ask you basic information like your name and where you live. We will ask you questions about your health, family, home, and work. If you have an electronic health record, we may ask for access. We may ask you to go to a local clinic or drug store for a free appointment with us. At this appointment we would measure your weight, height, hips, and waist, as well as your blood pressure and heart rate. We might ask you to give samples, like blood or urine at the appointment. You will be able to choose how frequently we contact you. From time to time, we may send you new questionnaires or offer other ways for you to share information about your health.

Resources Books, Articles, Websites, and Apps

Handout & Website Class website: http://healthcare-olli2017.weebly.com/genetics-in-the-news

A Look to the Future

Direct to Consumer DNA Testing Will Continue to Grow

Disorders For Which Gene Tests Are Available Will Also Continue to Grow

More Companies Will Offer DNA Healthcare Information/Testing Helix Ancestry Family Tree DNA – Vitagene FDA may remain more involved and create more rigorous regulation and criteria for approval of testing

Apps Will Be Developed to Interpret DNA Data Consumer Apps Will give consumer friendly information, easy to read, easy to understand Information may be delivered by distinct topics, e.g. medications; neurological disorders; mental health disorders Consent forms will be more comprehensive FDA controls may be required Professional Apps Will give precise medical genetic information, including inheritance patterns May outline who else in family to test, as appropriate May provide printable materials for patients

Traditional Healthcare will ‘catch up’ Electronic Health Record systems will update to record genetic information in a method easy for providers (and patients) to access More training for clinicians on genetics and genomics More resources for patients Expanded options for testing (i.e. expanded newborn screening, improved tumor testing) More personalized treatments and medications based on genomic profiles Continued and possibly expanded legal protection from genetic discrimination and other abuses of genetic information (hopefully! Call Congress and talk to your local representatives!)

“I note the obvious differences between each sort and type, Final Thoughts . . . . “I note the obvious differences between each sort and type, but we are more alike, my friends, than we are unalike.” Maya Angelou “Human Family” “Once you see through a genetic lens, nothing looks the same again” Barton Childs, MD

Please fill out your evaluations and give them to David The End Please fill out your evaluations and give them to David