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Introduction
Recent advances in high-throughput sequencing and genotyping technologies are helping unravel complex relationships that exist between health, genetics and genomics1. Genetics is the study of inheritance and focuses mainly on understanding the function and composition at a single gene level while genomics addresses all genetic information of an individual, and attempts to identify their collective influence on an individual’s growth, development and responses to the environment2. Progress in the genomics and genetics field is driving the boundaries of medicine and healthcare into the “Genomic Medicine” era3. Genomic Medicine is defined as "an emerging medical discipline that involves using genetic/genomic information about an individual as part of their clinical care (e.g., for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use.”4.
Several examples of Genomic Medicine exist and are currently being used in healthcare systems for cancers, rare diseases, clinical microbiology and pharmacogenetics3. Mutations genes e.g. BRCA1 or BRCA2 known to be associated with breast cancer are now routinely screened for by some centers to identify genetically at-risk individuals and provide the necessary counselling3. In our own environment, a set of four genes is routinely tested in individuals developing colorectal cancer under the age of 50 years, so that their relatives may benefit from ‘predictive’ testing, in the event a disease-causing mutation is identified in the proband/patient5. In some USA institutes, prospective screening of patients with variants in genes responsible for metabolizing pharmaceutical drugs is conducted and results deposited into electronic medical records to inform prescription of drugs such as cloxigel3 and carbamazepine6. However, the transferability of most existing Genomic Medicine examples to the African population is questionable given the high levels of genetic diversity and rare variants in these populations7 .
Africa has a high disease burden fueled by a range of infectious diseases (in particular HIV & AIDS, malaria, tuberculosis)8 and an increasing prevalence of non-communicable diseases9. Given the promise of Genomic Medicine in addressing continent specific health challenges, there is a need to increase genomic and genetic knowledge of African populations through research. To this end, several initiatives are currently underway aimed at increasing research capacity and knowledge of African genetics and genomes, these include the Human Heredity and Health in Africa initiative (H3Africa) which has 26 research projects/networks spread across Africa10; MalariaGen11 and The African Genome Variation Project 12.
Increased understanding of African genetics and genomics could facilitate the development of genetic/genomic tests for diagnoses, prognoses and for personalized drug treatments (pharmacogenetics/genomics) tailored for African populations and pathogens13. While healthcare workers are key to the anticipated successful inclusion of Genomic Medicine into routine healthcare procedures, African health practitioners seem to have little or no genetics/genomics knowledge14, thus reflecting shortcomings of current curricula. Continued failure to incorporate genetics and genomics into curricula in Africa will result in healthcare workforces incapable of keeping up with their evolving role in the Genomic Medicine era – thereby amplifying the already existing gap in healthcare and research.
H3ABioNet (Pan African Bioinformatics Network - www.h3abionet.org) in collaboration with the University of Cape Town’s Division of Human Genetics, are coordinating the development of an African Genomic Medicine Curriculum for personnel involved in genetics/genomics research and healthcare workers. To avoid reinventing the wheel, a formative assessment was conducted aimed at:
a) Analyzing and learning from existing Genomic Medicine training initiatives, b) identifying free genetics and genomics online courses or resources, c) documenting competencies which could help guide and possibly fast-track our curriculum development, and d) mapping of stakeholders.
An abridged version of the formative assessment is presented in the sections below.
Genomic Medicine Training Initiatives
The development of technologies pertinent to genomics is paralleled by developments in the arena of pedogogics (i.e. the science or art of teaching/education). Several institutions are offering Genomic Medicine training ranging from workshops, Massive Open Online Courses (MOOCs), short courses, diplomas and Masters Programs, however such training initiatives are still under-represented in Africa. A list of programs provided in the Table 1 is not exhaustive but rather aimed at highlighting examples. Noteworthy, is the Genomic Medicine training which is supported by the National Health Service England (NHS) – a model Africa could learn from, this training is offered across several universities across the United Kingdom in a coordinated manner. These include the University of Birmingham; Newcastle University; University of Manchester; University of Sheffield; Imperial College London; Queen Mary University of London/University College London; St Georges, University of London/King’s College, London; University of Cambridge; University of Southampton and University of Exeter.
Table 1: Examples of existing Genomic Medicine Courses
|
Level |
Institute/s |
Focus Area |
Notes
|
|
Masters/Post graduate diploma/Certificate |
Several |
Genomic Medicine |
Developed especially for National Health Services Healthcare professionals
|
|
Massive Open Online Course (MOOC) |
George Town University |
Genomic Medicine |
MOOC no longer live but content is accessible
|
|
Modules |
University of Florida |
Pharmacogenomics |
Specific to Pharmacogenomics/genetics
|
|
Workshops |
Training Residents in Genomics (TRIG) Working Group |
Genomic Pathology |
The group runs training workshops and also provides a handbook and material for potential trainers |
|
Masters of Science in Genomic Medicine |
University of Miami, United States of America |
Genomic Medicine |
Provided concurrently with an MD degree.
|
|
Module (Master of Clinical Nutrition) |
Ain Shams University, Egypt |
Nutrigenomics |
Module offered as part of Master |
|
Workshop |
Funded by the Wellcome Trust Foundation |
Molecular Approaches to Clinical Microbiology in Africa |
Advanced workshop and training |
|
Short course |
Genetic Alliance South Africa (GA-SA) |
Congenital disorders and Counselling |
Online course offered to South African nurses who care for those affected with congenital disorders |
Free Online Courses/Material for Nurses
Nurses are pivotal to the realization of Genomic Medicine in Africa as they are frontline workers in most healthcare facilities in Africa and have access to in-depth knowledge of the patients, families, and communities. Development of the Genomic Medicine curricula and corresponding courses will be a lengthy process as with any other training initiatives. In the interim, interested nurses can access free online educational resources. H3ABioNet recently developed a community driven web-based portal, the “eGenomics Catalogue”, aimed at aggregating free genomics and genetics training resources (books, courses, webinars, databases and software) (http://egenomics.h3abionet.org/). Users can search, upload and write reviews of resources aggregated by the eGenomics Catalogue. We highlight some resources found in the eGenomics catalogue which might be useful for nurses in Table 2.
Table 2: Sample of Free Online Genomics/Genetics Educational Material
|
Title |
Link |
Description |
Creators |
|
Telling Stories |
http://www.tellingstories.nhs.uk/
|
Short stories from those affected by genetic disorders. |
NHS National Genetics and Genomics Learning Center |
|
DNA Learning Center |
Site is devoted entirely to genetics education and includes information & short videos specific to a number of genetic disorders. |
Created and maintained by the Cold Spring Harbor Laboratory |
|
|
Genetics is Relevant Now: Nurses’ Views and Patient Stories |
https://research.cchmc.org/gepnlect/c118/index.html
|
Self-paced course. Includes interviews from genetics/genomics nurses. |
Cincinnati Children’s Hospital Medical Center |
|
Global Genetics Community-Unfolding Interactive Case Studies |
|
Bilingual interactive cases that highlight links between genetics and genomics. |
The G3C (Global Genetics and Genomics Community) |
|
Journal of Nursing Scholarship Genomic Nursing Webinar Series |
https://www.genome.gov/27552312/journal-of-nursing-scholarship-genomic-nursing-webinar-series/ |
Nursing and medical expert sharing their knowledge stemming from publications in the Genome Issue of the Journal of Nursing Scholarship. |
Journal of Nursing Scholarship Genomic Nursing Webinar Series |
|
Genetics Home Reference |
A catalogue of genetic conditions, explanations and a resource for learning basics in genetics and genomics. A free book is also available. |
National Library of Medicine (NLM), which is part of the National Institutes of Health |
Competency areas
Competency based medical education (CBME) is growing in popularity for planning and developing curricula in the health sector as it promotes accountability; learner-focused skills; knowledge and attitudes15. We highlight one source of nurse competencies relevant for genetics/genomics, the Genetics/Genomics Competency Center (G2C2). The challenge is to merge nurse competencies from different sources, tailor them for the African setting in order to suggest essential genetic and genomic nursing competencies relevant for nurses in Africa. The lack of a community agreed-upon minimum competencies list impedes efforts to educate nurses for genomics-based health care. Curriculum changes based on an essential list of competencies could facilitate nurse education in Genomics/Genetic16.
The Genetics/Genomics Competency Center: The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC) maintains the Genetics/Genomics Competency Center and the corresponding G2C2 website (http://g-2-c-2.org/). G2C2 stores 28 nurse competencies categorized into four areas:
- Family History
- Genomic Testing
- Patient Treatment Based on Genetic Results
- Somatic Genomics
- Microbial Genomic Information
Way Forward
Lack of or inadequate training in Genomic Medicine could delay the translation of emerging African genetic and genomics research output into quality healthcare. However, what is recognized is that investment of effort into a core curriculum which could serve the constituencies of genetic research scientists as well as clinical practitioners e.g. nurses, Genetic Counsellors and Clinical Consultants (including all of the clinical specialties) and would be effort well spent. We propose to develop an essential list of competencies in Genomic Medicine tailored for researchers, healthcare professionals and trainees in Africa. We also plan on using the Kern’s six step approach for curriculum development17. Such an approach could help systematically map needs, stakeholders, resources and monitoring and evaluation plans necessary for the implementation and adoption of the curriculum across the continent. H3ABioNet will develop a portal for the African Genomic Medicine curriculum and related resources, however awareness and use of these resources requires strengthening. Linking the H3ABioNet portal to existing online curriculum management systems in training institutions within African Universities and Colleges and the provision of train-the-trainer initiatives in Genomic Medicine might increase awareness and adoption of the Genomic Medicine curriculum.
To increase the relevance of the curriculum, ready to use genomic/genetic tests relevant to Africa will be sourced and recommended as part of the curriculum. We propose using the environment of H3Africa i.e. amongst the 26 projects currently underway, to engage their staff in experimenting with the available education/training programs on offer in order to gauge their relevance and compatibility. We expect that there are at least 52 nurses already involved in the H3Aprojects.
We anticipate that the curriculum developed under the leadership of H3ABioNet and the University of Cape Town Division of Human Genetics will help pave way for the integration of Genomic Medicine into mainstream healthcare in Africa.
Contributors – Kuda Bango. Samar Kassim, Chisomo Chisefula, Michelle Skelton.
PLEASE CITE AS FOLLOW:
Nembaware, V., Mulder N., and Ramesar R. (2016). Preparing for Genomic Medicine Nurse Training in Africa. Retrieved from Global Research Nurses Network website:https://globalresearchnurses.tghn.org/articles/preparing-genomic-medicine-nurse-training-africa/
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