When Science Fails: The Promise and Limits of Precision Medicine


For centuries, humans have used science to explain their world. From the principles that suspend the planets in orbit to the relational pull of predator and prey, we turn to science to both examine and rationalize the experience of life. But does our reliance on science have a limit, particularly in medicine, where the “why” of disease can often escape scientific explanation?

For example, historically, medicine has poorly understood why one person gets sick and another doesn’t, particularly for complicated illnesses like cancer, diabetes, or heart disease, where multiple factors contribute to risk. Similarly, it’s been difficult to pinpoint why one medication works well for one person but not another.

And in the case of social determinants of health, medicine has yet to chart the physiology of disadvantage. That means, while we know poor people tend to be sicker, we don’t fully understand how poverty and discrimination manifest physiologically to produce disease; although there are exciting theories about stress hormones and organ function.

And so the why has evaded us, until now.

In January 2015, President Obama invested $215 million in a national Precision Medicine Initiative to use what science knows about the human genome to personalize the way doctors diagnose and treat disease.

The idea is that by using a wide range of biomedical information — including molecular, genomic, cellular, clinical, behavioral, physiological, and environmental parameters, physicians and scientists will have new tools to understand disease and determine the treatments that work best for each individual’s illness and DNA.

With such a sizable investment from the Obama administration and the partnership of trusted institutions in the scientific community including the National Institutes of Health (NIH), National Cancer Institute, and the Food and Drug Administration, this Precision Medicine Initiative promises to improve the diagnostic strength and treatment success of modern medicine. The significance of that promise cannot be underestimated.

But as we turn to science to answer the elusive why, we have to be mindful of where science has failed in the past. This is to set reasonable expectations but also to avoid repeating past mistakes. So as we move forward, here are 2 things to keep in mind.

First, as we narrow our focus from the population to the individual, it may be easy to overlook the way certain diseases are disproportionately prevalent in certain communities. If we then, limit our evaluation to the individual, their DNA, and their illness, we may miss the aggregate data that compels us to also investigate disease at the community level, where local resources and public policy may profoundly shape disease patterns and prevalence. Which is to say, while some disease is best explained from the lens of a microscope, other disease is best appreciated with a panoramic view of the environmental conditions in which that disease persists.

Second, to capture enough data to understand the human genome, the NIH and its collaborators are aiming to enroll 1 million American volunteers in the Precision Medicine research cohort. But a study published in 2014 found that non-whites account for less than 5% of clinical trial participants. More specifically, of the 10,000 clinical trials reviewed in that data, only 150, or less than 2%, focused on a racial or ethnic minority population.

So, if the Precision Medicine cohort is anything like the clinical trial cohorts from the past, women, minorities, and the elderly may be underrepresented; not to mention undocumented “non-Americans” who are generally excluded from scientific research. That means, while some patients will receive care uniquely tailored to them, women, minorities, the elderly, and the undocumented, may get care that was studied, tested, and developed, mostly for young white men. So as we endeavor to improve our understanding of human biology and disease, we have to make demonstrated efforts to enroll those science has historically forgotten.

Probing the human genome for the answers to medicine’s greatest questions will almost certainly lead to innovations and improvements in the health of our population. But as with most innovations, without careful and thoughtful execution, the impact may be limited. In Precision Medicine, we risk continued exclusion of certain populations from the benefits of science. This is when science fails, when it is unable to capture the breadth and meaning of the human experience. So if Precision Medicine does not couple its inquiry into DNA and disease with an equally rigorous examination of the biologic imprint of social stress, poverty, and discrimination, we may be no why-ser, than when we started.


Walter Scott and a Pediatrician’s Conscience


The recent killing of Walter Scott was another brutal reminder of the home African-Americans wake to daily. Their America, is one where your father might not come home at night, because his brake light went out and that cost him his life. It’s a place where petty crimes are penalized by life sentences, doled out on the streets by the very men and women charged with their protection. But too often, they don’t find protection. And black men and boys are left lying there, without aid or comfort, in a pool of their own blood, for all to see the boundaries of permissible police conduct.

For there is no crime too small for which black fathers and sons may face imminent death. For some, death may merely be a traffic ticket away. And for others, no crime is even necessary. Simply disobeying social expectations, or committing crimes against the social order, can threaten an African-American’s life, if one encounters the wrong officer or wrong neighbor, wearing the wrong hoodie or playing with the wrong toy. For them, their public presence can be a justifiable cause for homicide and their assailant may not even face trial.

So as the death toll rises, the leading cause of death for black males aged 10-24 fails to shock anyone – it’s homicide. But you might be surprised to know that doctors are doing little to nothing about it.

In the wake of Sandy Hook, the response from physicians, and pediatricians in particular, was astounding. But as boys who could be my sons and men who could be my father, lie in the street, week after week, the medical profession is silent and I’m frankly appalled.

These deaths should weigh on every physician’s professional conscience. They rip into the very fabric of our degree and challenge the meaning of practices essential to modern medicine – harm reduction and disease prevention. If we, as a field, fail to even acknowledge the lives lost, let alone devise systematic interventions, at a certain point, we fail to honor the oath of our practice and to serve the core of our professional obligations.

Targeted police violence against African-Americans is a public health problem and it uniquely affects children. Yet to this date, there has been no public statement on behalf of the American Academy of Pediatrics, or any other professional medical association to my knowledge, recognizing the tragic deaths of African-American men and boys across this nation. So while my lone voice is hardly sufficient, I offer these words as a part of my professional responsibility to care for the lives of all my patients, big and small.

  • The toll police killings take on black families, including those not directly involved in the events of violence, matters and the chronic stress it generates may adversely affect family dynamics, community safety, and the mental and physical health of African-Americans of all ages.
  • Adolescents, both male and female, commonly participate in risk-taking behaviors as a part of their development as youth. Those same behaviors can have significant and lasting costs for African-Americans, as they may suffer higher rates of arrest, incarceration, and death.
  • Efforts should be taken on behalf of physicians caring for black families to discuss the toll police killings have on health. If there is concern for impending danger, appropriate referrals to local authorities and community organizations should be sought on behalf of the physician, nurse, or medical staff.
  • Preventative health screening guidelines for children and adults should include risks of gun violence, including police violence.
  • Training will be needed for physicians to appropriately discuss these concerns with families, screen youth for risk behaviors, and refer at-risk individuals to further services.
  • Funding for clinical interventions to address police killings should also support local organizations that work to decrease community violence.

Too many parents tuck their children into bed, only to worry that tomorrow, their curious 10-year-old may be the victim of police-related violence because the combination of a growth spurt and black skin threatened their life. Too many physicians either don’t know that, or don’t care. Because I’d have to imagine that if we knew and cared, we’d be doing something very different in medicine.

This is my plea for us to do something different. Silence is not okay. This is our responsibility, just as it is for all Americans to re-think what these deaths mean for our society. Because if this legacy of violence isn’t weighing on everyone’s conscience, we are all doing something wrong.

10 Minutes for Truth on Measles


To my medical colleagues, fellow health advocates, and concerned community:

As the recent measles outbreak continues to spread, spurred largely by at-risk, unvaccinated or undervaccinated children and adults, it is time to elevate our voice as physicians, scientists, and health advocates to educate the public on the importance of immunization. Let’s counter the misinformation dominating the headlines with the truth about vaccines!

10 Minutes For Truth: Measles
This Friday, Feb 6, 8am PST/11am EST, join the American Academy of Pediatrics, physicians, scientists, and health advocates across the nation in a live Twitter and Facebook storm. For 10 minutes, let’s sound off on measles and why vaccines are vital for the health of America!

The Hashtag
Use the hashtag #10Minutes4Truth AND #MeaslesTruth to create a social media storm. Let’s get the truth about measles trending!

What Should you Tweet or Facebook?
It is important to share the power of science in communicating this message. But also consider personalizing your content, ie “I immunize myself or my children because…” OR “Ask your pediatrician if they immunized their children on time?”

Consider referencing these informational links in your message:

Quick Facts

  • After 1 dose of MMR 95% of toddlers are protected, after 2 doses over 99% of children are protected from measles for a lifetime
  • Getting the measles vaccine is much safer than getting the measles infection.
  • The MMR vaccine is one of the most effective vaccines available today.
  • The risk of the measles vaccine causing serious harm is extremely small – less than one in a million people who receive the vaccine will experience a severe reaction.
  • 1 to 2 in every 1,000 people who get measles will die from it. Children under age 5 are at higher risk for complications like pneumonia
  • Measles is one of the most contagious viruses on earth.
  • Measles remains infective in the air for up to 2 hours in a room after an infected person has been there.

The time is now. Raise your voice and spread the truth! #10Minutes4Truth #MeaslesTruth

Also, we want our impact to be as big as possible, so please share this with your networks, colleagues, and fellow advocates. Thank you!

Rhea W Boyd, MD
Pediatrician, Palo Alto Medical Foundation and UCSF Children’s Hospital Oakland

Wendy Sue Swanson, MD, MBE, FAAP
Pediatrician, Seattle Children’s Hospital