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Perspective: The Precision Medicine Enterprise and Benefits to the Genetically Heterogeneous Diaspora to Brazil and US

The timing for this project is right given that most health records have migrated to electronic format, and that the cost of genomic testing has fallen

Submitted by KiTani Parker Lemieux1 and C. Reynold Verret1

1   Xavier University of Louisiana

People of African descent are a significant component of population in the Americas, including Brazil and the United States.   They contribute mightily to culture and society and also to the health care challenges of our nations.   The African diaspora in the Americas and other Latin Americans represents a genetically, highly heterogeneous population, due to admixture from European, Asian and Native American contributions  (1) The extent of admixture varies across the continent and within nations.

The Precision Medicine Initiative (PMI) seeks to better comprehend how a patient’s biology, environment, and lifestyle can influence prevention and treatment of disease.  Advances in genetic technology, including rapid sequencing, now allow health-care providers to identify individualized factors relevant to health status and treatment, rather than to focus on general attributes of groups, i.e. race or other loosely defined characteristics.   Thus, it responds to the profound genetic heterogeneity of peoples of African descent in the Americas.

In May 2017, the US National Institutes of Health announced the All of Us initiative, with a goal to gather individualized biological, environmental, and lifestyle data across the US population and to include all racial categories within the US territory.  Indeed, it is  a gift of better health care from the current generation to its descendants.   By considering these three major areas, the All of Us project will uncover areas avenues to improve clinical practice and patient outcomes by no longer treating patients as individuals as opposed to in a “one size fits all” approach (2).  

The timing for this project is right given that most health records have migrated to electronic format, and that the cost of genomic testing has fallen.  Technology allows for the management of “Big Data”, for example from the Human Genome Map, proteomics, and other omics data streams (3).  Instigation from National Institutes of Health (NIH) can assure broad cooperation across the health care system.  The burden of cancers, infectious diseases, and cardiovascular disorders has disproportionately affected African Americans and people from the Caribbean and Latin America.  By including a diverse population of participants in the All of Us Initiative would advance elimination of health disparities because it would better differentiate factors leading to disease and allow for individualized treatment.   Xavier’s unique history position our institution to engage underrepresented minority (URM) participants and contribute to the success of the PMI and All of Us Initiative.  

In order to assure participation of underrepresented minorities as active partners and incorporation of personal data in in the PMI, trust is necessary.  To do this, assurances of data security and patient informed consent must be transparent to potential participants and to larger communities.  Cybersecurity experts must be close and transparent partners in the management of these Big Data.  The Common Rule protections provided through informed consent are undergoing modification so that patients be informed and active partners in the All of Us Initiative.  The initiative must provide patients access to their personal records in real time and in secure formats.  Thus the goal of this project for patients, providers, and researchers can be realized as they collaborate and share responsibility to achieve more equitable health outcomes.  

The PMI is expected to yield short-term and long-term outcomes;.  Immediately, the initiative will spur the development of medical devices and the implementation of pharmacogenomics.  For cancer treatment, liquid biopsies to identify the molecular signature of tumors will serve as diagnostic and/or prognostic tools and as a non-invasive approaches to determine the best treatment for tumor.  By tracking and sharing a “cancer network” among scientists and clinicians, patients would receive the best possible care that will include standard and innovative treatments that would improve patient outcomes (4).  For drug therapies, the prescribed and over the counter medications that patients take would be tracked through the database.  Cytochrome p450 enzymes are primarily responsible for metabolizing many drugs; they vary amongst different ethnic groups and affect the serum level of various drugs.  Opportunities to identify the right drug dosages and to uncover novel drug targets for common diseases will serve patient populations across broad ethnicities.  Altogether, these data will enhance and individualize prevention and management of chronic diseases in diverse populations, and contribute to the elimination of health disparities.

Xavier University of Louisiana’s mission exists to promote a more just and humane society through education, research and service.  The elimination of health disparities is integral to our mission and to the scholarly activity of our faculty.  As a historically black university, rooted in the Catholic tradition, the university cultivates trust and educates people within the community towards positive health outcomes.  Due to our established rapport and history of serving the underserved, Xavier is well-positioned to educate the community on the significance of the Precision Medicine Initiative and of its special value to the genetically heterogeneous populations of the Americas.


  1. Mathias, RA, Taub, MA and Barnes, KC (2016) Nature Communications 7, https://www.nature.com/articles/ncomms12522?WT.feed_name=subjects_population-genetics
  2. Collins FS, Varmus H.  N Engl J Med. 2015 Feb 26;372(9):793-5. doi: 10.1056/NEJMp1500523. Epub 2015 Jan 30, PMID: 25635347
  3. National Institutes of Health All of Us https://allofus.nih.gov/
  4. Interview with Dr. Francis Collins on the recently announced Precision Medicine Initiative, Supplement to the N Engl J Med 2015; 372:793-795.

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