How to learn about medical genetics and genetic testing technologies?
As a professional in the field of medical genetics, it's crucial to continually expand your knowledge base to stay abreast of advancements in genetics and genomics. Strengthening your understanding of the foundations of medical genetics and familiarizing yourself with molecular biology technologies are key steps toward achieving this goal.
Here, we explore strategies to bolster your knowledge in these crucial areas during your fellowship.
1. Principle of Basic Genetics and Human Genetics Knowledge:
Even though most LGG fellows have a PhD degree in genetics or at least have experience in Human Genetics, some of them might not have received appropriate genetics education because it has been a long time since they took a genetics course or they only studied non-human genetics so far. Therefore, mastering basic genetic knowledge, or at least human genetics knowledge, is crucial for becoming a successful clinical lab geneticist. Here are some resources to learn (or refresh) about basic genetics knowledge:
Human Genetics course: Most LGG training program affiliated medical institutions provide basic genetics courses (e.g., Human Genetics) for medical school students, medical genetics residents, or genetics graduate students. Through a structured curriculum covering core principles of human genetics, you can learn about basic genetics necessary to understand genetic disorders and testing methods.
Mastery of Core Concepts: Focus on understanding fundamental principles such as Mendelian inheritance patterns, chromosomal abnormalities, and the role of genes in human health and disease.
Genetic Principles: Gain a solid understanding of fundamental genetic principles, including inheritance patterns, types of genetic variation, and molecular mechanisms of common genetic disorders.
Learning through Textbook and Conference: Since the basic principle or core concept of human genetics has been established well, it would be useful to learn from textbooks (rather than reading journal articles). Here are the most commonly used textbooks for learning basic human genetics:
- Thompson & Thompson Genetics and Genomics in Medicine (Thompson and Thompson Genetics in Medicine) 9th Edition
- Genetics and Genomics in Medicine 2nd Edition by Tom Strachan and Anneke Lucassen
- Human Molecular Genetics 5th Edition by Tom Strachan and Andrew Read
Also, consider attending fellows’ conferences (virtual) or workshops targeted only for LGG fellows in the entire US offered by Nationwide Children’s Hospital from Ohio State University. Here is the conference coordinator’s contact info:
Dr. Marco L. Leung PhD FACMG
Clinical Assistant Professor at the Department of Pathology at the Ohio State University College of Medicine
Email: Marco DOT leung AT nationwidechildrens DOT org (Please replace ‘DOT’ with ‘.’ and ‘AT’ with ‘@’)
2. Foundations of Medical Genetics and Genomics:
Since this fellowship is clinical-based and most of the training is associated with genetic disorders or clinical genetics, it is critical to understand the fundamentals of genetic disorders, especially molecular mechanisms, symptoms, clinical phenotypes, and inheritance patterns. Also, most LGG fellows do not hold medical doctor degrees, so it is necessary to spend an extensive amount of time studying genetic disorders, especially well-defined genetic disorders (about hundreds). There are several resources to learn about clinical genetics:
Clinical Genetics course: Most LGG training program affiliated medical institutions provide clinical genetics courses for medical school students, medical genetics residents, or genetic counseling students. Through a structured curriculum covering most core genetic disorders, you can learn about basic genetic disorders from diagnosis to treatment.
Textbook Power: Utilize classic medical genetics textbooks and online resources to build a strong conceptual base. However, the textbook only can cover classic and well-defined genetic disorders. Consider attending lectures or workshops offered by your fellowship program or local institutions to learn about the most recent findings about new genetic disorders. Here are the most commonly used textbooks for learning clinical genetics:
- Oxford Desk Reference: Clinical Genetics and Genomics (Oxford Desk Reference Series) 2nd Edition by Helen V. Firth and Jane A. Hurst - very detailed reference book
- Clinical Genetics and Genomics at a Glance 1st Edition by Neeta Lakhani, Kunal Kulkarni and Julian Barwell - categorize each organ system.
- New Clinical Genetics, fourth edition Fourth Edition by Andrew Read and Dian Donnai - case-based explanation of genetic disease and scientific background
Online resources: ACMG provides high-quality educational resources with various levels of expertise from general to specialty doctors. You can find review courses on clinical genetics topics. The ACMG education materials are open to members and taught by world experts in the field, providing a good overview of genetic disorders and new findings from research work. Also, OMIM provides good information on clinical genetics and a recent update on genetic disorders. It provides a good summary of the necessary information on genetic disorders and also provides the scientific background such as the molecular mechanism of the disease citing reference publications. GeneReviews is also a good online resource for clinical geneticists. It is useful for not only clinical geneticists but also for clinical lab geneticists and genetic counselors. It provides all the details of each genetic disorder and key information for clinical practice and lab testing.
· ACMG Genetics Academy: ACMG Genetics Academy
· OMIM: OMIM
· GeneReviews: GeneReviews
Journal Exploration: Delve into peer-reviewed journals dedicated to medical genetics and genomics. Start with review articles to gain a broad understanding of current topics, then gradually progress to research papers.
3. Molecular Biology Technology (Testing Technology):
Most LGG fellows have extensive experience in molecular biology, so it might not be new to them. However, it should be emphasized that it is impossible to interpret test results without a strong understanding of molecular biology technology. Here are a couple of things to focus on during your fellowship:
Dive Deep into Techniques: Familiarize yourself with various molecular biology techniques in clinical genetic testing. Techniques like cytogenetics including karyotyping, FISH, and microarray, and molecular technologies like PCR-based assays, Sanger sequencing, and Next-Generation Sequencing (NGS) each have their principles, strengths, and limitations.
Didactics for Technical Principles of Genetic Testing: Sometimes lab directors or technical directors can provide didactics for the technical principle of genetic testing. This education helps you understand the technical details of each testing assay and is invaluable for understanding the practical application of theoretical knowledge. Even if the lab directors cannot provide didactics for the technical part of the testing assay, you can still learn it from ACMG/AMP seminars or industry-sponsored workshops.
Journal Exploration: Since technology is continually evolving, textbooks on molecular biology technology may not be as useful as those for human genetics or clinical genetics. Thus, read the latest publications about advancements in genetic testing technologies. Learn the basic scientific principles of the new technology, how these advancements are implemented in clinical genetic testing, and how they are validated. Explore online resources, attend industry webinars, or participate in technology-focused workshops offered by professional organizations.
4. Strategies for Effective Learning:
To maximize your learning during your LGG fellowship and ensure long-term retention of knowledge, it's essential to adopt effective learning strategies. Active engagement with the material and practical application of concepts are key components of successful learning in medical genetics. Consider the following strategies:
Active Learning: Don't just passively read textbooks. The most effective way to retain information in the long term is by actively engaging with the material through self-testing and practice questions. Also, it is highly encouraged to discuss challenging concepts with fellow trainees and faculty members.
Case-Based Learning: Many LGG fellowship programs incorporate case studies into their curriculum. Actively participate in these sessions, analyzing real-world scenarios and applying your knowledge to solve clinical problems.
Continuing Education: Engage in ongoing learning opportunities, such as national conferences (ACMG and/or AMP), workshops, and webinars, to stay updated on advancements in medical genetics and genomics.
Mastering Clinical Genetics Knowledge as Important as Technical Knowledge
By focusing on both the foundations of medical genetics and genomics and molecular biology technologies, you can enhance your knowledge and skills in this dynamic and rapidly evolving field. Continuous learning and professional development are essential for staying at the forefront of medical genetics and providing the best possible care to patients.
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