ABMGG Clinical Genetics and Genomics Board Exam Study Guide

Use the current ABMGG requirements and content outlines to define your examination scope, then practice making the decisions a clinical vignette requires. Build a plan that covers both familiar clinic presentations and topics you encounter less often in training.

Confirm the examination you are preparing for

Begin with the current ABMGG content outlines and blueprints and the board's current requirements for your certification pathway. This guide focuses on Clinical Genetics and Genomics. Laboratory genetics and medical biochemical genetics are separate specialty examinations with their own outlines. General examination and specialty requirements can change, so check the applicable cycle rather than relying on a previous trainee's schedule or an old preparation guide.

Use the outline to make a coverage checklist. Include clinical presentation, disease mechanism, inheritance, test selection, interpretation, and management principles where relevant. A condition is not fully reviewed just because you recognize its name.

Turn cases into decisions

For each practice vignette, name the task before choosing an answer. Is the question asking for the diagnosis, the next test, the interpretation of a result, a recurrence risk, or a management principle? Write down the clue that most strongly separates your leading options.

Use EveryGene Academy for focused and mixed question practice. The 101 Must-Know Genetic Conditions flashcards can support condition review between sessions. For difficult calculations, use the free Math Workbook; for family-history reasoning, use the free Pedigree Workbook.

Review beyond the correct letter

If you recognized a syndrome but chose the wrong test, review test capability rather than spending the whole session rereading the syndrome. If the error involved a changing clinical recommendation, check an up-to-date guideline or condition-specific reference. Keep a short list of concepts to retrieve again later.

Add timed mixed sets when you can explain the reasoning in focused practice. A repeated question may feel easy because you remember it; use unfamiliar examples to check whether you can transfer the concept.

Practice a test-selection vignette

A four-year-old child has unexplained global developmental delay, dysmorphic features, and congenital heart disease. Chromosomal microarray is normal. Clinical evaluation has not identified a recognizable syndrome or a specific repeat-expansion, methylation, or biochemical disorder. Both biological parents are available for testing. Which broad genetic testing approach should be considered next?

Model answer: Consider trio exome or genome sequencing after counseling about its scope, limitations, and possible results. The ACMG pediatric ES/GS guideline supports exome or genome sequencing as a first- or second-tier test for children with congenital anomalies, developmental delay, or intellectual disability. This case fits that population and leaves a broad sequence-level differential after microarray.

Nearest alternative: A targeted gene panel may be appropriate when the phenotype points to a defined group of disorders. Here, the nonspecific findings favor broader testing. A normal microarray alone does not dictate the next test: a phenotype suggesting an imprinting disorder or repeat expansion would call for an assay that evaluates that mechanism. Review the test-selection guide to match the suspected mechanism to assay capability.

Keep the scope clear

Clinical genetics preparation is distinct from laboratory genetics or medical biochemical genetics specialty preparation. Use the relevant official outline for each examination. EveryGene is an independent study resource and does not supply official ABMGG examination questions.

Next step: Try medical genetics practice questions and review how to choose genetic tests.

Check the current requirements for your examination cycle, and use practice results to choose your next review topic.

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