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Why We Can’t Wait: A Public Health Approach to Health Disparities in Genomic Medicine

Categories: genomics, public health

Selected Conference Speakers and Organizers; Photo credit: Deneb Semprum

In May 2013, I attended and presented at the “Why We Can’t Wait Conference to Eliminate Health Disparities in Genomic Medicine.”  The conference was organized by the University of Miami and Stanford University, with attendees and speakers from academia, consumer organizations, government agencies, public health, clinical practice, and the private sector. A key rationale for the event is the increasing evidence that the promise of genomic medicine is not being realized equitably, highlighting the importance of dedicated resources and partnerships to address disparities in research and health care (e.g. by race/ethnicity, income and socioeconomic status).

Disparities have long existed in health and healthcare in the United States and around the world. [PDF 509.57 KB]  These include among many factors basic nutrition, public services such as clean water, educational opportunities, and quality health care. So will genomic medicine ameliorate or worsen existing disparities? This is a central issue for the relatively young field of public health genomics, which is concerned with effective and responsible translation of genome-based science to benefit population health.

six circles surrounding a circle including this text: Ensuring Effective and Responsible Use of Genomic Medicine to Improve Population Health. Circle 1 text: Community. Circle 2 text: Health Care Delivery System. Circle 3 text: Employers and Business. Circle 4 text: The Media. Circle 5 text: Academia. Circle 6 text: Governmental Public Health Infrastucture

adapted from the Institute of Medicine 2003 Report

Several speakers at the conference showed that evidence-based genomic applications that can save lives today are suboptimally implemented across the US population, with remarkable disparities. For example, a recent US analysis of the utilization of epidermal growth factor receptor testing in patients with lung cancer to drive appropriate therapy showed that only 12% of hospitals ordered the test. Factors associated with increased use included affiliation with an academic center, residence in a metropolitan county, higher education and income levels. A recent publication showed that there continues to be considerable underutilization of BRCA1/2 testing in the US, especially among Black and Hispanic women, even though the recommendations for genetic services in high risk women were issued by the US Preventive Services Task Force in 2005.  It is too early to evaluate how the recent ruling of the Supreme Court on gene patents will affect disparities in implementation of BRCA testing.  For Lynch syndrome, a practice survey showed that NCI-designated comprehensive cancer centers implemented screening much more than small community-based cancer programs. 

As the conference illustrated, a collaborative perspective is needed to ensure the equitable implementation of genomic medicine.  Collaborations among various players represent the existing patchwork of  the “public health system” in the United States, often discussed in reports by the Institute of Medicine (See Figure 1). Dr. James Marks, a public health leader at the Robert Wood Johnson Foundation once said:  “…no important health problem will be solved by clinical care alone, research alone, or by public health alone- but rather by all public and private sectors working together”. This is most certainly applicable to the burgeoning field of genomic medicine.

Over the past two decades, we have seen a number of collaborative initiatives primarily centered on discovery of genetic causes of disease such as the HapMap project, the H3Africa initiative, among many others.  In June, 2013, an exciting new global collaboration [PDF 269.37 KB] was launched to accelerate genomics and clinical data sharing around the world.  I believe the time is ripe for new collaborations to address disparities in implementation of genomic medicine by developing data sources and tools that can inform population-specific health interventions and public policy.  Public health agencies at the federal and state levels have a keen interest in ameliorating health disparities in genomic medicine. Work highlighted by Michigan, Georgia and Florida at the conference and by Connecticut and Oregon illustrates public health contributions. For example state cancer registries are being used to identify cases of certain cancers for additional research (e.g. BRCA1) and for reporting information to healthcare institutions about screening for recommended tests (e.g. Lynch Syndrome). More broadly, public health programs can work with other partners to i) assess the presence and quantify magnitude of population disparities in genomic medicine implementation; ii) develop policies and guidelines to address such disparities and iii) assure appropriate implementation of validated genomic applications using a combination of policy change, provider and public education, and interactions with health care and other coalitions.  In 2009, CDC outlined the elements of a collaboration, the Genomic Applications in Practice and Prevention Network (GAPPNet), a network of interested people and organizations passionate about translation of genomics research into population health benefits (through knowledge synthesis, implementation science and stakeholder engagement).               

We live in an exciting time of great scientific discoveries and “big data”. The leading edge of next generation sequencing has reached clinical practice. Almost 10 years ago, in a IOM workshop exploring the intersection of genomics and public health, Dr William Foege, a prominent public health leader, exclaimed “the challenge to public health genomics is to overcome inequitable allocation of benefits, the tragedy that would befall us if we made the promise of genetics only for those who could afford it and not for all of society.”  We need to reap the health benefits of new scientific discoveries for all. This is simply “why we can’t wait.”

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