Course : Enriching Racial and Ethnic Diversity to Improve Genomic Medicine

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.



The association of race/ethnicity with socioeconomic status, disease prevalence, and clinical outcomes is well recognized. However, the increasing implementation of genomic sequencing in clinical practice and its reliance on common resources and standardized approaches highlights the need for inclusion of and targeted research in ancestrally diverse populations. Opportunities for genomic research in diverse populations tend to occur in a complex context related to socioeconomic status and access to care, in addition to cultural differences related to genomics. Large clinical sequencing efforts in the United States have tended to draw disproportionately from populations of European descent, even though many Mendelian and complex diseases disproportionately impact minority populations. Comprehensive and accurate variant interpretation depends on population-specific allele frequency, which is incompletely catalogued. Successful inclusion in research studies depends not only on successful recruitment but also retention of diverse patients. Numerous factors may impact these efforts including the processes and language utilized for informed consent, results disclosure, and patient-provider communication, as well as culturally based perspectives regarding the utility of genomic results. Consideration of these factors can highlight approaches that may work across populations, as well as those that may need to be tailored to specific populations or cultures. As a matter of scientific value and equity, building a population-inclusive knowledgebase on which genomic medicine can be based is essential to the progress of genomic medicine for clinical research and patient care.
This session will offer recent examples of how inclusion of ancestrally diverse patients and populations in clinical research illustrate the need to improve such efforts, and will contribute to precision medicine for all. We propose six talks spanning a range from genetic epidemiology to clinical genomics to ethical, legal and social implications drawing from consortia such as the Population Architecture using Genomics and Epidemiology (PAGE), Implementing GeNomics In PracTicE (IGNITE), ClinGen, and Clinical Sequencing Exploratory Research (CSER) programs.

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

 Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:

1. Discuss limitations of existing genomics databases or resources for ancestrally diverse populations and opportunities to improve them
2. Evaluate the benefits and challenges to increasing inclusion of diverse populations
3. Examine ongoing efforts to improve variant interpretation, patient-provider communication or results disclosure in diverse populations
4. Apply key concepts of study design and community engagement for improved clinical research paradigms tailored to inclusion and retention of diverse populations

Purchase without Educational Credits