ABMGG Clinical Genetics & Genomics study plan
ABMGG Clinical Genetics & Genomics · Give each week a clear focus.
8 weeks · About 8 hours per week
Genetics and Genomics Core Knowledge (molecular, cytogenetic, biochemical, population and statistical principles)
Derive expected segregation ratios and recurrence risks for autosomal dominant, autosomal recessive, X-linked, and mitochondrial pedigrees without reference aids
Predict the transcript and protein consequence of each major variant class (nonsense, frameshift, canonical splice-site, missense, in-frame indel, repeat expansion, copy-number change)
Interpret karyotype, FISH, and chromosomal microarray results using correct cytogenetic nomenclature and name the underlying mechanism (nondisjunction, unbalanced segregation, uniparental disomy, ring formation)
Calculate allele frequency, carrier frequency, and positive predictive value from Hardy-Weinberg and Bayesian inputs
Match urea cycle, organic acidemia, fatty acid oxidation, and lysosomal storage defects to their accumulating metabolites and first-line confirmatory tests
Your checkpoint
Closed-book 30-question mixed quiz spanning molecular, cytogenetic, biochemical, and population genetics, scored at or above 80%, with a written error log naming the underlying principle missed for each incorrect item.
Genetics and Genomics Core Knowledge (molecular, cytogenetic, biochemical, population and statistical principles) & Laboratory Testing Strategy, Test Interpretation and Genomic Data Analysis
Compare karyotype, CMA, FISH, MLPA, Sanger sequencing, exome, genome, and RNA sequencing on resolution, detectable variant classes, turnaround, and failure modes
Select and justify a first-tier test for ten clinical vignettes drawn from prenatal, pediatric, adult, and oncology settings
Identify the technical limits that produce false negatives and false positives in each assay, including pseudogene homology, low coverage, and mosaicism thresholds
Explain the statistical principles behind reporting thresholds, positive predictive value, and variant of uncertain significance rates in different ancestry groups
Your checkpoint
A one-page decision table mapping eight test modalities to indications, limitations, and turnaround time, plus written first-tier justifications for all ten vignettes.
Laboratory Testing Strategy, Test Interpretation and Genomic Data Analysis
Apply ACMG/AMP classification criteria to twenty variants, assigning each evidence code and a final classification
Normalize and transcribe variants in HGVS nomenclature at genomic, coding, and protein levels
Detect artifacts and analytical pitfalls in sequencing data, including strand bias, segmental duplications, and paralogous mapping
Distinguish reportable secondary findings and incidental copy-number changes from findings that should not be reported, using current professional guidance
Your checkpoint
A classification workbook covering twenty variants, each with per-criterion evidence justification and a final class, reaching at least 85% concordance with reference classifications.
Laboratory Testing Strategy, Test Interpretation and Genomic Data Analysis & Clinical Assessment, Diagnosis and Natural History of Genetic Conditions Across the Lifespan
Filter trio-style exome data by inheritance model and phenotype fit to produce a short candidate list per case
Write structured laboratory reports for five cases that state the finding, its classification, the limitations, and concrete follow-up recommendations
Describe age of onset, core features, and surveillance intervals for the ten conditions most often seen in a general genetics referral stream
Correlate genotype with expected phenotype severity across at least three conditions with variable expressivity
Your checkpoint
Five mock laboratory reports scored against a written quality checklist covering classification accuracy, limitation statements, and actionability of recommendations.
Clinical Assessment, Diagnosis and Natural History of Genetic Conditions Across the Lifespan
Construct a differential diagnosis and staged workup for ten vignettes presenting with dysmorphism or multiple congenital anomalies
Trace the lifespan trajectory of eight representative disorders, specifying surveillance intervals from infancy through adulthood
Recognize red flags that distinguish heritable from acquired mimics in cardiology, neurology, and metabolic presentations
Interpret growth charts and developmental milestones to flag syndromic patterns rather than isolated delay
Your checkpoint
A condition dossier for twelve disorders, each listing inheritance, key clinical features, surveillance schedule, and recurrence risk, formatted for rapid review.
Genetic Counseling, Risk Assessment and Communication
Compute recurrence risks for complex scenarios involving consanguinity, germline mosaicism, X-linked carrier status, and multifactorial threshold models
Draft results-disclosure scripts for uncertain, unexpected, and secondary findings that a non-geneticist clinician could follow
Apply informed consent and confidentiality principles to eight counseling scenarios, including predictive testing in minors and testing of relatives at risk
Communicate risk numerically using absolute risk, natural frequencies, and teach-back rather than relative risk alone
Your checkpoint
Ten written recurrence-risk calculations with worked reasoning, plus a role-played ten-minute counseling session for a complex result scored against a communication checklist.
Genetic Counseling, Risk Assessment and Communication & Management, Treatment, Prevention, Ethics, Policy and Professional Practice
Evaluate ethical and legal scenarios including duty to warn, genetic discrimination protections, insurance implications, reproductive autonomy, and return of research results
Compare management options for treatable disorders, covering dietary therapy, enzyme replacement, small-molecule chaperones, antisense oligonucleotides, and gene therapy, with their monitoring requirements
Design surveillance and prevention plans for five families with high-penetrance inherited risk
Assess how health equity and access barriers alter the counseling and management plan in underserved populations
Your checkpoint
A written ethics case analysis of two scenarios, each ending in a defensible recommendation tied to named professional policy statements.
Management, Treatment, Prevention, Ethics, Policy and Professional Practice & Genetics and Genomics Core Knowledge (molecular, cytogenetic, biochemical, population and statistical principles) & Laboratory Testing Strategy, Test Interpretation and Genomic Data Analysis
Summarize the accreditation, proficiency-testing, and quality-metric requirements that govern a clinical genetics laboratory
Synthesize cross-domain management plans for six integrated vignettes, each ending in a specific treatment and follow-up recommendation
Complete two full-length timed mock examinations and trace every error to a root cause rather than a content label
Prioritize remaining weak areas into a final-week remediation sequence
Your checkpoint
Two full-length timed mock examinations scored at or above 80%, accompanied by a root-cause error analysis and a one-page personal remediation list covering all five domains.
Milestones
Week 2: Score at or above 80% on a 25-question Domain 1 quiz and finish the test-modality decision table before moving into Domain 3 content.
Week 4: Score at or above 75% on a timed 60-question cumulative block covering Domains 1 and 3, with no more than two recurring error types in the log.
Week 6: Achieve 10 out of 10 on recurrence-risk calculations and at or above 80% on the counseling communication checklist.
Week 8: Score at or above 80% on both full-length mocks, with every domain represented in the root-cause error log and a written remediation plan completed.