White House Precision Medicine Initiative: Are the Risks Worth the Gain?

“Doctors have always recognized that every patient is unique, and doctors have always tried to tailor their treatments as best they can to individuals.  You can match a blood transfusion to a blood type-that was an important discovery.  What if matching a cancer cure to our genetic code was just as easy, just as standard?  What if figuring out the right dose of medicine was as simple as taking our temperature?” -President Obama, January 30, 2015

In January 2015 during the State of the Union Address, President Obama announced his plans to launch The White House Precision Medicine Initiative (PMI), a revolutionary approach to the way we collect, conduct, and share disease research. 

The overarching goal of the White House PMI is to create a global warehouse of electronic medical and science data from diverse data sources including medical records, genomics, lifestyle and environment, and personal device/sensor data.  Currently these types of data are collected inconsistently, using different methods, and stored across organizations and agencies such as medical clinics, hospitals, healthcare and insurance systems, state and federal health departments and other state and federal agencies, clinical trial locations, and private pharmaceutical and biotechnology companies. 

Those in research are often frustrated by this reality because it takes a lot of time and money to request data from these various sources.  When data is provided it is aggregated and does not allow the researcher to link individuals across data sources, which would allow scientists to answer several important research questions.  For example, if set up correctly such a data warehouse would give scientists the ability to identify specific chemical or other environmental exposures, lifestyle habits, and genetics and molecular pathways associated with disease.  Knowing this will better enable public health to provide recommendations for maintaining good health and preventing disease.  It would allow regulatory agencies the ability to more accurately create safe exposure limits on chemicals in our environment.  And it would allow clinical researchers to develop tailored treatments for both common and rare diseases, and treatments that would be effective on an individual’s specific type of disease based on their genetics with minimal side effects. 

In March 2015, the White House convened an interagency working group charged with developing a set of privacy principles for PMI.  On July 8, the White House held a live-streaming conference to discuss the Precision Medicine Initiative and publicize the following:

·        White House PMI Website

·        Patients who have benefited from precision medicine

·        Individuals and Organizations who are supporting the PMI, known as White House Champions of Change (#whchamps)

·        The Interagency Working Group Proposed Privacy and Trust Principles for public comment (due by August 7, 2015).  

The President’s PMI plan is to focus on cancer first then build in other diseases including rare diseases such as ALS/MND.  The PMI will enlist 100,000 patients to volunteer in a pilot study that will help the Interagency Working Group to refine their procedures and policies required to implement the larger project.  In order for this to be a success, the White House needs patient buy-in that they are trying to garner through these Champions of Change supports, opportunity for public comment on proposals, and outreach through social media.    

PALS Campaign reviewed the Precision Medicine Initiative: Proposed Privacy and Trust Principles document.  We feel that the PMI is a very ambitious project with laudable goals, however we are gravely concerned about the inherent data privacy issues with attempting such a large-scale, and globally accessible project and have a number of questions.

Who will be the primary data holder(s) and what will this data system look like? How will the White House protect against cyber attacks and network hacking?  And how can we be assured that personal health information will be used strictly for the research purposes intended under the PMI? 

Having one entity responsible for warehousing the data, for example the National Institutes of Health (NIH) or Centers for Disease Control (CDC), would hopefully insure better data accuracy and consistency, however this would pose a greater data security risk.  Look at the recent U.S. federal data breach of 22.1 million federal employees and their family members where the Chinese government is said to have stolen American home addresses, social security numbers, mental and criminal background checks and fingerprints.  The size and nature of such a cyber attack does not really increase a sense of safety when it comes to signing over information on your full DNA profile and other personal health information.  And what about people who work for the agencies themselves?  What restricted access protocols will be in place to insure that data breaches don’t occur within the system? 

We believe the best architecture for a PMI data warehouse would be to operate it similarly to how other active health reporting/surveillance systems work.  Federal agencies will work with clinical researchers, epidemiologists, patients, advocacy organizations, etc… to develop a set core of measures and datasets that will be compiled.  These protocols will be provided to states with training.  State agencies work with the various data holders, e.g. medical clinics, hospitals, healthcare systems, etc… to link data sources to individuals.  The database is then cleaned so that errors are corrected and each individual is given a unique identifier known only to that agency.  States send their database updates to the responsible federal agency (e.g. CDC, NIH) who will compile state data into a national database.  In this architecture, individual data can be linked to the various data sources, but will be de-identified at the national level. No names, birthdates, or addresses will be associated with the dataset that researchers analyze, however it can be linked back at the state level using the states known unique identifier for reporting results back to the individual.  This architecture would not 100-percent guarantee that PMI at the state level would not be breached, but would reduce the chance of a major and severe data breach at the federal level. 

What will be the Institutional Review Board (IRB) process and who will sit on the committee?  How will the White House insure informed consent is upheld?

Fundamental Assumptions About the PMI Cohort (Number 3) of the PMI document states that the intended researchers will include academic, non-profit, and for-profit entities.  It also says the scope of research will be broad-based, not only for answering specific questions but also for hypothesis generation.  Patients and study participants are a lot more cautious about signing over their personal information for research given past research abuses.  Two research frameworks that we recommend the White House use include: Community-Based Participatory Research (Israel et al, 2005) and Reality-Based Research (Poupart et al, 2009).  These frameworks include study participants throughout the process, from project design to implementation and information dissemination.  What would this look like?  Patients, their caregivers, and advocates would be included on all planning and decision committees, including the IRB.  One issue previously raised was whether or not a personal record could be contained within the database once that person has passed away and could no longer provide consent for release of their records.  We feel that every effort should be made to get informed consent for records pertaining to genome information, however in the case of death or lost to follow-up an IRB consisting of people with the disease would be appropriate representation. All information provided to patients and their family members including informed consent forms and research results should be written in plain language, health literacy, and numeracy best practices.  In keeping with an authentic partnership under CBPR and RBR frameworks, information must be in a format that will be understandable.  Common medical and scientific jargon, including presentation of data in graphs and tables is confusing for most people.  The PMI should consult with health literacy experts to insure that forms and reports are understandable.           

How will this be paid for?

Lastly, how will this system be paid for?  The large nature of the project, multiple individuals that would need to be involved, database and security development will not come cheap.  If people must volunteer to become part of this database then will the data collected be truly representative at a population level? 

White House Precision Medicine Initiative: Are the Risks Worth the Gain?  That is up to you.  Public comment on the Precision Medicine Initiative: Proposed Privacy and Trust Principles is due August 7, 2015 using an online form available at the White House PMI Website.  PALSFirst Campaign encourages all PALS and CALS to read this document and provide feedback. 

 

References

Collins and Varmus.  A New Initiative on Precision Medicine.  The New England Journal of Medicine, 372 (9), February 2015.

Nakashmia, Ellen (2015, July 9).  Hacks of OPM databases compromised 22.1 million people, federal authorities say.  The Washington Post.

Poupart, Baker, and Red Horse (2009).  Research with American Indian communities: The value of authentic partnerships.  Children and Youth Services, 31(11): 1180-1186.

Israel, Eng, Schultz et al (2005).  Methods in Community-Based Participatory Research for Health, 1^st Edition.  Jossey-Bass.

The Precision Medicine Initiative.  The White House, 2015.

Precision Medicine Initiative: Proposed Privacy and Trust Principles.  The White House, July 8, 2015.

#WhiteHouse #PrecisionMedicine #whchamps #endals #nowhiteflags #ICantWait #ALSA  

Empathy in Science, Medicine, and All Policies

“The moral test of a nation is how it treats those who are at the dawn of life, the children; those who are in the twilight of life, the aged; and those who are in the shadow of life, the sick, the needy, and the handicapped.”  -Hubert H. Humphrey (1976) 

Today marks the end of ALS Awareness Month, but the fight lives on for those suffering with ALS, their caregivers, close family and friends, and advocates.  On this last day of May, PALS Campaign reflects on the future of ALS research, treatments, and the community stronghold and calls for Empathy in Science, Medicine, and All Policies.    

It is humbling to see the awareness and interest in private funding for ALS grow, peaked by the efforts of the ALS Ice Bucket Challenge, numerous films and personal accounts in the social media, the Steve Gleason Act, and rallying at the Capitol over GM604.  It is with great sadness that we also realize we are likely decades away from real change.

 

HIV/AIDS and Cancer-two diseases that rose in status from diseases no one wanted to acknowledge or were too overwhelmed or scared to deal with to widespread public awareness and finally major public and private financial investment and policy change that led to the advancement of and access to treatments.  What turned the needle in favor of critical change was the marriage of radical advocacy and science. 

After several years dancing the two-step with politicians, change advocates in HIV/AIDS and Cancer realized they needed to get more radical in order to gain the media attention needed to drive political pressure and shame companies into providing experimental treatments to those suffering and dying of their diseases.  These advocates became so well organized that they knew the date, time, and location of every investment meeting for experimental pharmaceuticals, every NIH, FDA and policymaker meetings and events and every location of the biotechnology and pharmaceutical company headquarters.  Why?  Because these are the ideal locations and times to hold rallies and protest companies that deny access to treatments.  These two movements held funeral processions at company headquarters, honoring those who had asked for treatments, were denied, and subsequently died.  The larger the rally or protest, the more media attention they received.       

           

This alone was not enough to fight the war.  They needed true scholars, people who empathized with those suffering, were well read, well educated and had the necessary skills to guide the movement in the right direction.  These individuals didn’t read a few journal articles or a few web pages on the Internet and assumed they knew everything.  They looked at the issue from all angles-science, medicine, policy, advocacy and sought out content experts, those in government and policy to understand the processes behind FDA rules and regulations, scientific limitations, etc…  They asked the right questions, identified hurdles and sought big picture solutions.  They didn’t focus on one drug or blamed all their woes on one government agency.  They changed how we fundamentally look at drug development, clinical trial design, and created the FDA Accelerated Access and Expanded Access programs.

Interviews with government agency heads and policymakers said the radical protests and rallies grabbed their attention, but it was the scholars that came to them with specific solutions and knew the language of science which allowed them to make real changes that made all the difference in the world.   

Competing interests, financial drain, and low political will prevents us from moving the needle from ALS awareness to fundamental changes: major public-private financial investment in research, developing new clinical guidelines and clinical trial designs for ALS, creation of a mandatory national ALS registry, creation of a health literate, consumer friendly clinical trial search engine, encouraging Accelerated Access of experimental drugs deemed reasonably safe and effective in Phase 2 trials and Expanded Access of experimental drugs and treatments that do not qualify for Accelerated Access.  These goals are within reach if the ALS Community marries radical rallies and protests with sound science.     

PALS Campaign also calls to action Empathy in Science, Medicine, and All Policies.  There are three ways in which we engage with a disease: sympathizing, empathizing, and understanding.  Sympathizing, is feeling compassionate towards someone’s suffering.  Empathizing is getting towards the core of your feelings, trying to picture yourself in that person’s shoes.  And understanding is when someone actually has the disease.  Those with the power of decision making, the doctors and scientists responsible for researching the disease and treating patients, the businesses that hold future treatments, and policymakers that make decisions on the processes and incentives in place may show sympathy towards those with ALS.  Unless they themselves have ALS, they can never truly understand what it is like.  But the call to action is this-Let Empathy drive your decisions in science, medicine and policy.  Imagine yourselves in the shoes of someone with ALS.  If you lost your ability to walk, eat, speak and move, how would you like to be treated in clinic?  What would your priorities be in scientific development?  Wouldn’t you want policymakers, industry, government, advocates to work together to provide more options for treatments?      

Health Literacy Best Practices Needed in Clinical Trials Search Engines

Have you ever spent hours on government websites looking for health information or their policies and procedures, or simply left out of frustration?  Have you ever gone to a clinical trial search engine site trying to find experimental drugs and therapies to try, or compare the different options but felt overwhelmed?  You’re not alone.  Clearly, most clinical trial search engines are not patient-focused.  Yet when we ask our healthcare providers for more information on clinical trials, they always point us to the search engines.  The problem is that these clinical trial search engines are not written or designed with health literacy in mind.         

Health literacy is the ability to access, understand, and use health information to make decisions.  It doesn’t necessarily have to do with someone’s ability to read or their education, but whether or not health information is relatively easy to find, accessible to those with visual or hearing impairments or other disabilities, and written in plain language.  Many government websites have cluttered website layouts, too small of a font size (10-point), are difficult to navigate and find the information you need, and are written with lots of medical and scientific jargon.

Studies have shown that health literacy is linked to increased emergency room visits and hospitalizations, people being able to correctly take their medications, people following up on medical appointments, being an active participant in their health care such as self-care and preventive health screenings, and participation in clinical trials.  It’s no wonder, when you consider how the common clinical trial search engine is designed and its content.  They may be sufficient for a doctor or clinical researcher, but are far from helpful for the person with an actual disease or condition or their caregivers.  The search engines seemingly rely on the fact that your doctor or a different health care professional will help the patient and their family access the information on the clinical trials sites.

One such example is www.clinicaltrials.gov.  Over the years, this National Institutes of Health administered site has improved with the addition of a table showing you the course of action for those assigned to the treatment group versus placebo or control group.  However a lot of the information is written in medical and scientific jargon.  In fact they have to devote a separate page on their website to define these terms.  Not really a health literacy best practice.  Several of the search engine hits list outcome measures, which is typically of interest to the researcher or treating doctor but not the patient.  Navigating the various trials can also be challenging.  The study titles they use are overwhelming and not all completed studies post their results or publications.  A recent study by Utami et al (2014) shows how consumers or patients have trouble navigating clinical trial search engines and what content and layout would be best suited for a patient or consumer centered search engine.   

     

In 2007, Senators Norm Coleman (R-MN) and Tom Harkin (D-IA) introduced a bill known as the Health Literacy Act, which would have provided critical funding to expand health literacy research and best practices and developed federal and state-based patient centered resource centers.  The bill, S2424 had bipartisan support, was co-sponsored by Susan Collins (R-ME) and Amy Klobuchar (D-MN), and had support or endorsement from organizations such as AARP, U.S. Chamber of Commerce, America’s Health Insurance Plans (AHIP), National Health Council, Institute of Medicine (IOM) Roundtable of Health Literacy, American Medical Association (AMA), Institute for Healthcare Advancement (IHA), etc.  Unfortunately it stalled in Senate and never was passed.

In 2010 three major initiatives were put in place to try to address health literacy.  It was a major step forward but did not have the major funding and widespread impact that the Health Literacy Act would have delivered towards improved consumer health information.    

1.      The Affordable Care Act directly and indirectly addressed health literacy by incorporating health literacy into professional training (section 5301) and streamlined procedures for enrollment into Medicaid, the Children’s Health Insurance Program, and the state-based insurance exchanges (section 1413) (Koh et al, 2012).

2.      National Action Plan to Improve Health Literacy, unifies health literacy goals and strategies for the country and is based on the following two principles:  a. All people have the right to health information that helps them make informed decisions and b. Health services should be delivered in ways that are understandable and lead to health, longevity, and good quality of life (Koh et al, 2012).  

3.      Plain Language Writing Act of 2010 (PL 111-274): Purpose of this Act is to improve the effectiveness and accountability of Federal agencies to the public by promoting clear Government communication that the public can understand and use.

Predating these efforts was a 1998 Amendment to the Rehabilitation Act, which requires federal agencies to make electronic and information technology accessible to people with disabilities.  Known simply as Accessibility or Section 508 Compliance, everyone must be able to view online information including documents, websites, and videos regardless of their disability.  Web Content Accessibility Guidelines were established that enables content on the Web to be accessible to a wider range of people with disabilities, including blindness and low vision, deafness and hearing loss, learning disabilities, cognitive limitations, limited movement, speech disabilities, photosensitivity and combinations of these.  Some examples of how this is implemented include video captions and web materials that are compatible with assistive technologies such as screen-readers.  Although this had been in law for over a decade, it had not been implemented to its full extent resulting in lawsuits. 

So what needs to happen?  People with ALS, their caregivers, and advocates need to demand that clinical trial search engines be health literate.  They need to implement consumer or patient-focused website design, plain language, numeracy, and accessibility standards.  Clinicaltrials.gov is one of the major search engines, so let’s start there.  Ask policymakers to reintroduce the National Health Literacy Act to provide real funding towards revamping ClinicalTrials.gov and making other health information accessible.    

References

Koh HK; Berwick DM; Clancy CM; Bauer C; Brach C; Harris LM; Zerhusen EG (2012).  New Federal Policy Initiatives to Boost Health Literacy Can Help the Nation Move Beyond The Cycle of Costly ‘Crisis Care.’ 

Senator Norm Coleman’s Office.  Coleman, Harkin Introduce National Health Literacy Act.  [Press Release], December 6, 2007.  Washington, DC.  http://votesmart.org/public-statement/309745/coleman-harkin-introduce-national-health-literacy-act#.VU5LDiFViko

Utami D, Bickmore TW, Barry B, Paasche-Orlow MK (2014).  Health Literacy and Usability of Clinical Trial Search Engines.  Journal of Health Communication: International Perspectives, 19: sup2, 190-204.