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Race historically has been used as a biologic variable in diagnosing, managing, and treating patients, but the rapidly evolving field of genomics already has demonstrated that race is not a valid factor for these purposes. The Chair’s Invited Session: Race, Genomics and Medicine (32223) at the 71st AACC Annual Scientific Meeting & Clinical Lab Expo in Anaheim, California, will explore the history of race-based medicine, health disparities in genomic medicine, and the future of genomics research. “Because self-identified race is frequently used in clinical laboratory assessments such as the calculation of serum creatinine, laboratorians need to be aware of the potential errors introduced by making assumptions on the race of patients,” according to session organizer Jason Park MD, PhD, DABCC, chair of this year’s Annual Meeting Organizing Committee (AMOC).

Multiracial individuals in the United States comprise 3% of the population and in 2015 accounted for 14% of infants. These individuals may self-identify as multiracial or as a single race.

According to Park, assessing the risk of certain diseases associated with particular racial groups has been a traditional teaching mechanism in clinical medicine. “For example, if a patient has the physical appearance or self-identifies as African American, a physician may discount the possibility of the patient having a disease such as cystic fibrosis, which more frequently occurs in patients of European ancestry,” explained Park, an associate professor of pathology at UT Southwestern Medical School and the Eugene McDermott Center for Human Growth and Development. This type of clinical racial profiling has been described as a factor in delayed diagnoses and misdiagnoses.

Researchers and clinicians have proposed using ancestral genetics as a more objective tool to assess the risk of diseases associated with racial groups. However, ancestral genetic testing is a statistical tool and does not represent all racial/ethnic groups. “For example, Hispanics are the largest minority group in the United States, but the identification of Hispanic ancestry is not directly calculated, but rather set at a more than 10% Native American ancestral genetic mix,” he said.

Three speakers at the chair’s session delve deeper into these topics.

Jay Kaufman, PhD, a professor at McGill University’s department of epidemiology, biostatistics and occupational health, plans to discuss the foundations and consequences of race-based medicine. “It’s an embarrassment for American medicine that in the 21st century it continues to rely so heavily on race as a primary categorization in research and clinical practice. This is in contradiction to the overwhelming scientific consensus that these historically and politically defined categories are not rational or effective representations of real human biological variability,” Kaufman told CLN Stat. A commitment to end racial discrimination in medical care needs to take place, “which derives entirely from the social meaning of race, not from any presumed biological significance of that categorization,” Kaufman emphasized.

Clinicians should be using direct measures of genetic susceptibility as well as measured differences in diet and lifestyle, “and other universally applicable and scientifically replicable measures and constructs that are directly relevant to health and disease,” he added.

Isaac Kohane, MD, PhD, professor of biomedical informatics at Harvard Medical School, will explore the healthcare disparities component as it relates to the genomic era. Eric Green, MD, PhD, director of  the National Institutes of Health’s National Human Genome Research Institute wraps up the presentations with a talk on the Human Genome Project and future genomics research. 

Since the project’s successful completion in 2003, advances in genomics have taken place that dramatically empower the study of human biology and disease, Green told CLN Stat. “New DNA sequencing technologies now allow the routine generation of prodigious amounts of DNA sequence data, which are being used to gain new insights into genome structure, function, and evolution as well as the genomic bases of rare and common diseases. Meanwhile, meaningful and effective clinical applications of genomics are now emerging, all linked to the use of these new DNA sequencing methods,” he said.

CLN has highlighted how the lack of diversity in genomic data has posed challenges for researchers and clinicians alike in properly identifying and treating patients. Scientists and research organizations have taken steps to improve diversity and encourage minority populations to take part in genomic studies. A good example of these efforts is the H3Africa consortium, which is building research capacity in Africa with African scientists, Kaufman said.

Attend the Chair’s Invited Session and earn 2 ACCENT credit hours. The event will take place from 2:15 to 4:15 p.m. August 5 at the 71st AACC Annual Scientific Meeting & Clinical Lab Expo in Anaheim. Clinicians, pathologists, laboratory directors, clinical chemists, fellows and trainees, medical technologists, and research scientists are encouraged to attend this session. Anyone involved in patient care, research and development, healthcare management or health policy would also benefit.